########################################################################## # # Data type: Disease # Data format: tsv # README: # Source: Alliance of Genome Resources (Alliance) # Source URL: http://alliancegenome.org/downloads # Help Desk: help@alliancegenome.org # Orthology Filter: Stringent # Taxon IDs: NCBITaxon:9606 # Species: Homo sapiens # Alliance Database Version: 7.0.0 # Date file generated (UTC): 2024-02-27 10:49 # ########################################################################## Taxon SpeciesName DBobjectType DBObjectID DBObjectSymbol AssociationType DOID DOtermName WithOrtholog InferredFromID InferredFromSymbol ExperimentalCondition Modifier EvidenceCode EvidenceCodeName Reference Date Source NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25148895 20220408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24898882 20220408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12852 YWHAG is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31541342 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12852 YWHAG is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27929120 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12852 YWHAG is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30309804 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12781 WNT2B is_marker_for DOID:1911 endodermal sinus tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:16822086 20080725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18081 WIF1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14517837 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:32856850 20230711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20534899 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26426684 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23144151 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28347242 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12787 WNT7B is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15492823 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12783 WNT4 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9099960 20080725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:592 XIAP is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17332931 20100113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16966 ZMYND11 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:34969361 20220819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26013439 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31870117 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27714846 20220408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31569391 20220408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16265 WNT5B is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15972578 20080725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30917 WIZ is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33381146 20230123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11628 ZNF354A is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9788609 20080403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12787 WNT7B is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9461004 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4055 XRCC6 is_marker_for DOID:2513 basal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16497868 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12780 WNT2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15736421 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4055 XRCC6 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16497868 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33268793 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:592 XIAP is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17947468 20100113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12784 WNT5A is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9099960 20080725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_marker_for DOID:5520 head and neck squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25456005 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15671546 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:33298161 20221101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15466 WFDC1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15305341 20080401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15466 WFDC1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15305342 20080401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18081 WIF1 is_marker_for DOID:0050685 small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14517837 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11628 ZNF354A is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9788609 20080403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19407365 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31371628 20220408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12781 WNT2B is_marker_for DOID:3307 teratoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16822086 20080725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12855 YWHAZ is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27811373 20190822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8138195 20220610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33217982 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18081 WIF1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14517837 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:592 XIAP is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27827395 20220822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1316081 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18081 WIF1 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16575872 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:592 XIAP is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18325467 20100113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:592 XIAP is_marker_for DOID:3007 breast ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17350670 20100113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24626331 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17675 XPO5 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22766726 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16262 YAP1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32682784 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12776 WNT11 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11712081 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28373767 20220408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19443388 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12778 WNT9A is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12786 WNT7A is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11232041 20080728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_marker_for DOID:4682 extrahepatic bile duct carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27279267 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27435776 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12780 WNT2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14517837 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26551349 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_marker_for DOID:3030 mucinous adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28713972 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27821145 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12836 XRN2 is_marker_for DOID:1967 leiomyosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24485798 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_marker_for DOID:4929 tubular adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28713972 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12787 WNT7B is_marker_for DOID:1618 breast fibroadenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8168088 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20003838 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28607398 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_marker_for DOID:1984 rectal benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:22805008 20200226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31281482 20200221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_marker_for DOID:0050933 ovarian serous carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19856421 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_marker_for DOID:7031 glottis squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28849066 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11812077 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18081 WIF1 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14517837 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24026662 20220408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12791 WRN is_marker_for DOID:397 restrictive cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15916825 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:592 XIAP is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19563669 20100113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12778 WNT9A is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11713592 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_marker_for DOID:3571 liver cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30088263 20191115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12780 WNT2 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9099960 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12833 XRCC5 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16497868 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_marker_for DOID:2048 autoimmune hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20534899 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26460974 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12833 XRCC5 is_marker_for DOID:2513 basal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16497868 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12862 ZFP36 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32248342 20220818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33368532 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16049 PTGES3 is_marker_for DOID:3181 oligodendroglioma ECO:0000270 expression pattern evidence used in manual assertion PMID:19347995 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14107 PMEPA1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14639658 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26930285 20191108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16835748 20191108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27338800 20191108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18544126 20191108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28147320 20191108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12036 TRAF6 is_marker_for DOID:2600 laryngeal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20164024 20220112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9221 POU5F1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17205510 20080418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:19198857 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30278 RFTN1 is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28990066 20221025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25529012 20220909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30064309 20220909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:11400 pyelonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20213923 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16741576 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15878520 20170809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24999729 20170809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_marker_for DOID:0050902 medulloblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25576913 20180724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11195 SOX2 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21689966 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21929816 20130621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_marker_for DOID:9975 cocaine dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:29992335 20231010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16278667 20080722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:7744320 20140213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_marker_for DOID:1312 focal segmental glomerulosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24744439 20170411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19513509 20210928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29331390 20210915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30070373 20210915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21384094 20120608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20229356 20120608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11086 SLIT2 is_marker_for DOID:0080745 polymyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:32213157 20230330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:30686515 20191014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:11870 Pick's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12410393 20120314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:12122039 20170804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:19287316 20170804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_marker_for DOID:12689 acoustic neuroma ECO:0000270 expression pattern evidence used in manual assertion PMID:20600642 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11769 TGFB3 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18360718 20170919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 is_marker_for DOID:11727 facioscapulohumeral muscular dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:15551024 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15719 OBSCN is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15345656 20161128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10471 RUNX1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28926105 20210408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18235054 20090729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19052536 20130729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11026 SLC3A2 is_marker_for DOID:0080899 lung pleomorphic carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30300664 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 is_marker_for DOID:2799 bronchiolitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:11981419 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25465101 20201112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8602 PAPPA is_marker_for DOID:90 degenerative disc disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18552658 20151124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9373912 20080409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8023 NTF3 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15843147 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:0060181 ischemic colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15770733 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19080469 20101008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:19148690 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11764 TG is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:95586 20140314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11756 TFF2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16467092 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:9111 cutaneous leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:20493664 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22266663 20130607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:14566 disease of cellular proliferation ECO:0000270 expression pattern evidence used in manual assertion PMID:11864704 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12242727 20080424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27581326 20171031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15895395 20160504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16315781 20120103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22684844 20120815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15523596 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23298303 20220908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32406594 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32302954 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32434874 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32345579 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32427582 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32293449 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7668 NCOA1 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14751175 20080807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11210 SPA17 is_marker_for DOID:3965 Merkel cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31218705 20200526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31728180 20220112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21385099 20220112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11006 SLC2A2 is_marker_for DOID:3892 insulinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12114701 20100518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11006 SLC2A2 is_marker_for DOID:3892 insulinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8421107 20100518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29367342 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23809372 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9067 PLD1 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27713167 20190301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:23457721 20140107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30635 SOX30 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32443323 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22385289 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7889 NOX1 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:32856850 20230711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:37 skin disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21357384 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10466 RTKN is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27922690 20200204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10524 SALL1 is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:33298161 20221101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18184611 20130925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10786 SRSF4 is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16847874 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:22648117 20120801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:8761 acute megakaryocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15180862 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:3213 demyelinating disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31383792 20210614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10961 SLCO1B3 is_marker_for DOID:1520 colon carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19074900 20220621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17971181 20090807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:20058618 20230613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18973209 20230613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:20436266 20230613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:24647386 20230613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19506831 20230613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17875187 20230613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:21645024 20230613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21114432 20120601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 is_marker_for DOID:11206 opioid abuse ECO:0000270 expression pattern evidence used in manual assertion PMID:31710992 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15831233 20220309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14692702 20220309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23228155 20160316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:12849 autistic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:22717029 20120703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10227724 20100526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7657125 20100526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31198978 20200605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31140425 20200605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12067231 20140512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12516 UCN is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16915033 20071015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:10140 dry eye syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23372055 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23334332 20190301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:1240 leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:12206017 20160420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:1240 leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18549615 20160420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:17198913 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10935 SLC18A2 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16421508 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32546655 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:33743046 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:33369818 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:33377539 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6773 SMAD7 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25602745 20190513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22683425 20130226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19926968 20130226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8910 PGR is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:12628841 20080507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10499 S100A9 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:4989 pancreatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:12923961 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_marker_for DOID:3319 lymphangioleiomyomatosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11306434 20110203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN is_marker_for DOID:90 degenerative disc disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23453657 20150507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26985932 20211129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29022910 20211129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32144747 20211129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28370778 20211129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15201550 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:28352810 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:20655109 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9071 PLG is_marker_for DOID:10159 osteonecrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16547717 20200622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9071 PLG is_marker_for DOID:10159 osteonecrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16677567 20200622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11366 STAT5A is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23660011 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 is_marker_for DOID:2893 cervix carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16803521 20080908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20132067 20120403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:31472145 20220519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19633828 20090818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21082031 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18035688 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17572184 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30789971 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:0002116 pterygium ECO:0000270 expression pattern evidence used in manual assertion PMID:19065760 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15273657 20091002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19690775 20091221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11015 SLC30A4 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:12955079 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:16426919 20140415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:22271757 20140415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21636803 20140415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:24387171 20140415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11795 THPO is_marker_for DOID:5160 arteriosclerosis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:10822072 20070427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10787 SRSF5 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17651715 20160303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10964481 20181109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12384247 20181109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4502 PTGDR2 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18334635 20110708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26605748 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:8481 rheumatic myocarditis ECO:0000270 expression pattern evidence used in manual assertion PMID:22987107 20180724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 is_marker_for DOID:13001 carotid stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16311343 20231004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21474912 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:14974364 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14764920 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19382 SOCS2 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:12888825 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:399 tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:27865385 20210219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 is_marker_for DOID:3594 choriocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15507671 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:22385289 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25757764 20180126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20110607 20181205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21978728 20181205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7849 NME1 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17492507 20110602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11026 SLC3A2 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19171406 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20717938 20101004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:11506 suppurative otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:22883581 20140115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16465407 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11927969 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20544684 20130227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_marker_for DOID:9976 heroin dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:24231353 20231019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19353 SIN3A is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10441327 20140917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:11729 Lyme disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19461880 20120604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21978709 20170914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:16209246 20130611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:9047083 20200818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17158635 20200818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:17257273 20150723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:2143809 20150723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:11421854 20150723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22110199 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21187458 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23981608 20200210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16917866 20200210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11141 SNCG is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10557341 20120313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10019 RIPK1 is_marker_for DOID:9201 lichen planus ECO:0000270 expression pattern evidence used in manual assertion PMID:20368033 20140106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11009 SLC2A4 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:18778861 20091005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18391 SCGB3A2 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21385388 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18391 SCGB3A2 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17218572 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11098 SMARCA2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17075831 20081226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12693 VIP is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22143367 20120112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:0050933 ovarian serous carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26166715 20210622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:12549 hepatitis A ECO:0000270 expression pattern evidence used in manual assertion PMID:9047083 20191018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:24763013 20160429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:24801815 20160429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:11886393 20160429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19178538 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16779848 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12428 TWIST1 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19893041 20110504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7671 NCOA4 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15166229 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7671 NCOA4 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12368219 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15454252 20080418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:23946637 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:20376794 20160919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_marker_for DOID:10754 otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:14690056 20130924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11768 TGFB2 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8253361 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_marker_for DOID:4608 common bile duct neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:8143972 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9253 PPIA is_marker_for DOID:12506 Bell's palsy ECO:0000270 expression pattern evidence used in manual assertion PMID:32149981 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18449964 20100423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7787 NFIL3 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_marker_for DOID:2696 Leydig cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:11994382 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_marker_for DOID:2696 Leydig cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:11920744 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:21162967 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:17391113 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8630 PEBP1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11853019 20090120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8630 PEBP1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10210891 20090120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8630 PEBP1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7770119 20090120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18922969 20130621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:114 heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19856476 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10484 RYR2 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24335961 20230906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:20233518 20230614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29933 NLRC5 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27338800 20191107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12516 UCN is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:19808377 20110920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:2355 anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18423402 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22702340 20130313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31454632 20220622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:2512 nevoid basal cell carcinoma syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15308259 20170331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32427582 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32365221 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32345579 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:1270 hereditary hemorrhagic telangiectasia ECO:0000270 expression pattern evidence used in manual assertion PMID:16611101 20160120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9299 PPP2CA is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24395787 20140714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29893 RMST is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:27317124 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14665489 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16901349 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14760085 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25371988 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27359056 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31429776 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19664633 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11598 TBX20 is_marker_for DOID:1682 congenital heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27572266 20230131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19755989 20091222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_marker_for DOID:2513 basal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10504535 20170331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:17880936 20121120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:4971 myelofibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:26123119 20160504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:19833760 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:11650 bronchopulmonary dysplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:18025794 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28320113 20200522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15631 TLR7 is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19386802 20110330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31933938 20200610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30653265 20200610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12333 TRPC1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28035468 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11140 SNCB is_marker_for DOID:3981 pantothenate kinase-associated neurodegeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:10934140 20120313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:7147 ankylosing spondylitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21556780 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16068 PCNT is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23979692 20161004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16068 PCNT is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22552340 20161004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20665 SCN3B is_marker_for DOID:4724 brain edema ECO:0000270 expression pattern evidence used in manual assertion PMID:27487831 20230726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16713 SRSF10 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:24098751 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:2355 anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:14613268 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:2355 anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:2324681 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18715664 20090807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21711960 20120601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11141 SNCG is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18577885 20120312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:23814118 20170809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1436 S100G is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10961 SLCO1B3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32534581 20220621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10961 SLCO1B3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21626360 20220621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:32602008 20230201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11200 SOX4 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16052521 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18455830 20090807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19365032 20090807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15059706 20090807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9065 PLCG1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8275435 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:3192 neurilemmoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14963743 20170811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9206 PON3 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17664137 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21514635 20120824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:0050912 colon adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29875879 20210914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_marker_for DOID:3319 lymphangioleiomyomatosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29885404 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8816 PDPK1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25064732 20180110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11728 TERF1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18720522 20100322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23029535 20150615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:9120 amyloidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14613268 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10570439 20080407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11068 SLC8A1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:17192285 20071010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9657 PTPN5 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20427654 20150312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8747 PCSK5 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19737405 20161027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:11506 suppurative otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:22883581 20140115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11989 TOP2A is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18347174 20091221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10771 SF3B4 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:35853859 20230117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:0050872 large cell neuroendocrine carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18440724 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7703 NDUFB8 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14570706 20181109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:8544 chronic fatigue syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16321154 20200608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_marker_for DOID:14735 hereditary angioedema ECO:0000270 expression pattern evidence used in manual assertion PMID:15356570 20140610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 is_marker_for DOID:4852 pleomorphic xanthoastrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16909113 20161215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12394762 20080409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8050820 20080409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29408335 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32106377 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10964 SLC22A18 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26196590 20220105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:15926884 20070501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:24634940 20190725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11284 SRD5A1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15212687 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10781 TRA2B is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:24098751 20160225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:1967 leiomyosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10652422 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:5394 prolactinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22580984 20170116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:3892 insulinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18058603 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:13949 interstitial cystitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22441309 20130306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_marker_for DOID:8544 chronic fatigue syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15570154 20200811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14240 SMPD3 is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:20448054 20150511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:9120 amyloidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14613268 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10835496 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21481963 20220427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22977534 20220427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB is_marker_for DOID:2696 Leydig cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:11994382 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:8347330 20151130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14005 PEG10 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:37464405 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14005 PEG10 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:22137777 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14005 PEG10 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:25526181 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8004 NRP1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25333267 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:9410916 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9113 PML is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:20228380 20210203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18802018 20120405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7849 NME1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8636741 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7849 NME1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8519661 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:10140 dry eye syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22025895 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:19228864 20090805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30635 SOX30 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26330328 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11254 SPOP is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26022775 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:9471 meningitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21971819 20120608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17390053 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19324949 20101026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:14730686 20070614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12528817 20210208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29295823 20210208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:4677 keratitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18398706 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18937968 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7956 NPY1R is_marker_for DOID:0050830 peripheral artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21468772 20151204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14752841 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10785 SRSF3 is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:18281098 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11526 TACR1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:8240667 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7861 NNMT is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28174167 20230815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19643942 20110425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16808 UBR1 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33381146 20230123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:0060318 acute promyelocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:10861807 20161006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10783 SRSF2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29278882 20210916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:26627607 20191108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18544126 20191108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_marker_for DOID:4556 lung large cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22245727 20220510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 is_marker_for DOID:3314 angiomyolipoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15994429 20080709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20729266 20130215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 is_marker_for DOID:11049 meconium aspiration syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21567110 20110801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10788 SRSF6 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9865741 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_marker_for DOID:0060036 intrinsic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:27249171 20221108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:14592844 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:12143 neurogenic bladder ECO:0000270 expression pattern evidence used in manual assertion PMID:23301927 20130422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:16019000 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:10003 sensorineural hearing loss ECO:0000270 expression pattern evidence used in manual assertion PMID:19684145 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19303097 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:13025 retinopathy of prematurity ECO:0000270 expression pattern evidence used in manual assertion PMID:10751359 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:11812753 20180216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12778073 20170919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15057430 20170919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:874 bacterial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:15271694 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:12120 pulmonary alveolar proteinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16849999 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:12120 pulmonary alveolar proteinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19046553 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:21623661 20200213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11823 TIMP4 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15273280 20080312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:17444595 20071205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_marker_for DOID:0080799 sinonasal undifferentiated carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30120966 20210624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16234302 20110503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18410550 20110503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:25953386 20220411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7545 MYB is_marker_for DOID:0050523 adult T-cell leukemia/lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27307595 20160902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7517 MUC6 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10209489 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:2799 bronchiolitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:16969297 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:0060322 mastoiditis ECO:0000270 expression pattern evidence used in manual assertion PMID:24690988 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23531 PLPP4 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16818692 20091119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_marker_for DOID:0050741 alcohol dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:21955155 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14001 PRDM14 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23690269 20211209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:12716 newborn respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18353230 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:33236535 20230327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:14726396 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:8567 Hodgkin's lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26044287 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP is_marker_for DOID:0050852 limb ischemia ECO:0000270 expression pattern evidence used in manual assertion PMID:30638058 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:10825 essential hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19556974 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:10825 essential hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:31865725 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:3030 mucinous adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17708554 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:3030 mucinous adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10227724 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:3030 mucinous adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19954814 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10526262 20080424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15455382 20080424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10936 SLC18A3 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16987871 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17126950 20110425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:33236535 20230327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9065 PLCG1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26464646 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9065 PLCG1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25085076 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22037102 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11121536 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18553 PLLP is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:15334603 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21691937 20130107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14984964 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:0080832 mild cognitive impairment ECO:0000270 expression pattern evidence used in manual assertion PMID:29391125 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17079454 20200608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:14588098 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23077 OTUB1 is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22279542 20140715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11291 SRF is_marker_for DOID:3319 lymphangioleiomyomatosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12654640 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8614 PAWR is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9701251 20150319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20592629 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:11789718 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_marker_for DOID:7475 diverticulitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18491196 20200902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11795 THPO is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:12487786 20070427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8632 PBX1 is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28990066 20221025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18854400 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21645024 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25437889 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31278889 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21711960 20120601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:23726093 20161006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10390012 20130617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7669 NCOA2 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19277704 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:3213 demyelinating disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14694045 20120221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9077 PLK1 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18353325 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29408335 20210610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10505717 20190322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27514687 20201002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17393520 20201002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16412833 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9875 RASGRF1 is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:23200899 20150504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16339184 20210812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28350784 20210812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7516 MUC5B is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18776153 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_marker_for DOID:7188 autoimmune thyroiditis ECO:0000270 expression pattern evidence used in manual assertion PMID:15661832 20110317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:25200248 20160219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:35041140 20221018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22950 PREX2 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32537022 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11898 TNFAIP6 is_marker_for DOID:4251 conjunctival disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22297496 20140107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_marker_for DOID:10976 membranous glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:24744439 20170411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:19181604 20101026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:18266831 20100928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_marker_for DOID:12716 newborn respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:7537464 20101006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:0080001 bone disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25322877 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:2048 autoimmune hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:9047083 20191018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10901 SKP2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24743017 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17027 SLC16A10 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33609949 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:19276301 20120529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18334737 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:17013605 20080729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18734 MTREX is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23006766 20160401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19552525 20101101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:2513 basal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10677095 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1546 SERPINH1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25111595 20210212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1546 SERPINH1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24295791 20210212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12541 UGT1A9 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9230212 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:10159 osteonecrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16547717 20200624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8590 PAK1 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12165855 20080813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:13641 exfoliation syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23805041 20140213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:13641 exfoliation syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18055805 20140213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15922420 20080714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16008942 20080714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_marker_for DOID:263 kidney cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23150719 20130320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29344181 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:4914 esophagus adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12055587 20170801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10969652 20220603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:22087236 20120619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7849 NME1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8605098 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11254 SPOP is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24912477 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11344 ST14 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18813126 20091217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18250061 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:4897 bile duct carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24890221 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17075 TAB2 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:9470 bacterial meningitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15105355 20111024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:0080202 adenoid cystic carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23516127 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10606 SCP2 is_marker_for DOID:905 Zellweger syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:3555624 20180828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9658 PTPN6 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18543080 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20450542 20110221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12816735 20110531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19797159 20110531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29534342 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28876464 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16240287 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:4724 brain edema ECO:0000270 expression pattern evidence used in manual assertion PMID:27487831 20230726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19391 SOCS3 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12888825 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7685 NDUFA2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28474567 20181106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24122999 20210908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32015333 20220128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29190981 20220128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26538215 20220128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12724 VTN is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15678274 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10658 SDC1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23374247 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16951150 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19180491 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8590 PAK1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17621631 20080813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9780295 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7871 NONO is_marker_for DOID:0080685 aortic dissection ECO:0000270 expression pattern evidence used in manual assertion PMID:24720418 20230118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23631129 20220810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16480593 20220810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30123088 20220810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10789 SRSF7 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21082031 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8048 NUDT1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21538080 20151214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24796583 20220519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17194 NDUFA13 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26605748 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:21299359 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:21173508 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:23460043 20130404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7513 MUC3A is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12657964 20100526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14981951 20180206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12591 UROD is_marker_for DOID:3132 porphyria cutanea tarda ECO:0000270 expression pattern evidence used in manual assertion PMID:661926 20101022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10484 RYR2 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:3490 Noonan syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20686427 20170726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3708 VEGFD is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18343598 20091223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:29295823 20210208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:11166 Human papillomavirus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20473890 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_marker_for DOID:11166 Human papillomavirus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20473890 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11823 TIMP4 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11576837 20080312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30672 SYNPO is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:33298161 20221101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_marker_for DOID:2513 basal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15077124 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18145 PHF6 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31329335 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18145 PHF6 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30888215 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:13129 severe pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:19573524 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:13129 severe pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:27279411 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:13129 severe pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:31949674 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9740394 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8892355 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23416000 20130315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30064 PBRM1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28940253 20210823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7850 NME2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:7614395 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12614934 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_marker_for DOID:3030 mucinous adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17079945 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16629790 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15262124 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15628771 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8512 OTC is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30901224 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25091195 20170811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16806572 20110222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11070 SLC8A3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21382638 20180613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_marker_for DOID:0060041 autism spectrum disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:26691363 20170331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_marker_for DOID:0060041 autism spectrum disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:21984201 20170331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17662121 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9351625 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:0080998 acute necrotizing pancreatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15257107 20170811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16496379 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9353 PRDX2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29199150 20220908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18396779 20110222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:10584 retinitis pigmentosa ECO:0000270 expression pattern evidence used in manual assertion PMID:18326689 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24508012 20161013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20522449 20220908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:24690988 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9353 PRDX2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23393224 20220909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:24387171 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21111939 20130225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23908180 20140430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:11335 sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20151281 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19832990 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15222692 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:0050912 colon adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12865273 20170914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10982 SLC25A12 is_marker_for DOID:0060041 autism spectrum disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:18180767 20180621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7850 NME2 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17272673 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11595703 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7517 MUC6 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10209489 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28002804 20180711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30005007 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30690477 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12673720 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29303510 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12115563 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17624412 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14986 SNAP91 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20847448 20180205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:16157088 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10451 RRM1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19002265 20210603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17310252 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21111488 20170404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23784731 20220308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26876 PARP15 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33381146 20230123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16353170 20080903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11762 TFR2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15015967 20160425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28871240 20231019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14654947 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19377061 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:0110858 polycystic kidney disease 1 ECO:0000270 expression pattern evidence used in manual assertion PMID:19346236 20130205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:17526990 20210510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10783 SRSF2 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23071587 20210914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13722 NUTF2 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19404486 20150304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18544126 20191108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15476950 20090506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11536371 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:10906156 20130611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15698596 20230728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:11088 asphyxia neonatorum ECO:0000270 expression pattern evidence used in manual assertion PMID:14707571 20111024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9612 PTK2B is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:11774117 20071005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19728994 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:20512127 20121129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11823 TIMP4 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12798711 20080312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10761 SETDB1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24556744 20141117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9077 PLK1 is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15948124 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:23837838 20130722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:23192919 20130722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:23415693 20130722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25502723 20161007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:24260297 20150511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16139132 20091012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28313 TET3 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27050164 20210914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14524 SPAG9 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24460345 20200612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10458410 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16467092 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16094703 20100528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10934 SLC18A1 is_marker_for DOID:14175 von Hippel-Lindau disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16189177 20110425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11156238 20080407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19878654 20200608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19081476 20200608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29408335 20210611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31396300 20210611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:10126 keratoconus ECO:0000270 expression pattern evidence used in manual assertion PMID:23441349 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:10126 keratoconus ECO:0000270 expression pattern evidence used in manual assertion PMID:24148525 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9445 PRL is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22392353 20210522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26945 MTFP1 is_marker_for DOID:769 neuroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27765905 20170505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:0050912 colon adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25712946 20230613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_marker_for DOID:869 cholesteatoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24321752 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21686 RNASET2 is_marker_for DOID:5410 pulmonary neuroendocrine tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:29763721 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9592 PTGDS is_marker_for DOID:11664 nephrosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11882588 20071002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:11335 sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14511257 20110725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:18413499 20110726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25371154 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12888898 20080418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:3742 bladder squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26916953 20210622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19912632 20110527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16456243 20110527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:10825 essential hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:9350073 20130621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24833563 20170914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17597401 20170914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22977534 20220427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:0080822 aspirin-induced respiratory disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9487340 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0050452 mevalonic aciduria ECO:0000270 expression pattern evidence used in manual assertion PMID:7780142 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:9201602 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17283255 20070912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16172460 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14965443 20080409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11299801 20080409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:10557341 20180207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:18625222 20180207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:18577885 20180207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11332076 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16704535 20111011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17075 TAB2 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12808121 20080729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:17083831 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:17899683 20120106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29254206 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7981622 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30064 PBRM1 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27864835 20210823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_marker_for DOID:10159 osteonecrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16547717 20200622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_marker_for DOID:10159 osteonecrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16677567 20200622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11078798 20080813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:1240 leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:26524016 20160504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17705178 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9230741 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10894 PRMT5 is_marker_for DOID:2696 Leydig cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:17437848 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8614 PAWR is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20724592 20150319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15929959 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19013462 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9491 PRSS8 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:12518323 20080421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29899555 20220217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16254107 20080320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11809701 20080829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20040765 20120529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20195855 20120529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18068619 20230414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:24275554 20230414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22901214 20211101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:15072741 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:17667845 20110729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21978728 20181205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20110607 20181205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11989 TOP2A is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19913893 20091221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16861722 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12614261 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:0060322 mastoiditis ECO:0000270 expression pattern evidence used in manual assertion PMID:24690988 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:25412846 20160505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9152291 20160215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18251 SELENOH is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9692 PTX3 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:30687307 20200819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:5016 hepatocellular clear cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20723213 20190725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:5016 hepatocellular clear cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28460432 20190725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10768 SF3B1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33038489 20210423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11371124 20080418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16909 NDC80 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19878654 20200608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19956069 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:20306667 20161007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10718 SELE is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18791689 20091002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC is_marker_for DOID:3113 papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12203051 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11332076 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31383792 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33317883 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29789 MTUS1 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19956880 20100310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14511332 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14654947 20100506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19055478 20100506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:30030781 20230614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:19846170 20230614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:30038059 20230614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:32602008 20230201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:20861651 20130107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19396032 20100406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:19336590 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19686 SEPHS2 is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10943 SLC1A5 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:23794090 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:8393677 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9630 PTN is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14692702 20220307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:35799735 20221014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:17505145 20221014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:23411880 20221014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:559 acute pyelonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20163326 20230614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16782755 20101206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20528622 20101206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:13543 hyperparathyroidism ECO:0000270 expression pattern evidence used in manual assertion PMID:17047023 20130206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC is_marker_for DOID:182 calcinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18422975 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13232 RASSF8 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19506399 20220908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14681945 20100505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18172859 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17478562 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17114213 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB is_marker_for DOID:1984 rectal benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:25473181 20170913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15631627 20110407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19506087 20090818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:2596 larynx cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20967863 20210514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 is_marker_for DOID:2237 hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:32186778 20230921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20592629 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9253 PPIA is_marker_for DOID:1474 aggressive periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:27176139 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17681738 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17886097 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15821467 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:0080745 polymyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:11055823 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11052 SLC6A6 is_marker_for DOID:4752 multiple system atrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:24304186 20161018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:23521696 20201201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27729429 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18219831 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22555057 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6769 SMAD3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17908958 20080916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_marker_for DOID:1307 dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:2903567 20151203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15056834 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22950 PREX2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28205209 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22950 PREX2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31776854 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22950 PREX2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28000796 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22950 PREX2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25151370 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32226507 20200610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:14067 Plasmodium falciparum malaria ECO:0000270 expression pattern evidence used in manual assertion PMID:1984482 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16696 SNW1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24150787 20160212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21817822 20230614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11724 TEK is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16917117 20070423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:15866083 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:14744773 20080312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14654933 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22577387 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22555057 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:11078065 20140304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_marker_for DOID:2526 prostate adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15073126 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30309804 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27929120 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29368621 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31541342 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10452 RRM2 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21556566 20110624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20523897 20120503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29391125 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9499192 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23776093 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_marker_for DOID:1520 colon carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:2436227 20211109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16475027 20130919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20682707 20210914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23071587 20210914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:0081267 graft-versus-host disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20037809 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7637 NAP1L1 is_marker_for DOID:11240 appendiceal neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:16794389 20141112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_marker_for DOID:0050784 primary progressive multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12926841 20170329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16875506 20111129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:32423153 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10683291 20151202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:2557638 20151202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8215963 20151202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12669 VDAC1 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24825319 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:557 kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14613268 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_marker_for DOID:3314 angiomyolipoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19265534 20161212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31502404 20220831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH is_marker_for DOID:1210 optic neuritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15258226 20200526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH is_marker_for DOID:1210 optic neuritis ECO:0000270 expression pattern evidence used in manual assertion PMID:29085182 20200526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:24844605 20160218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19270495 20160218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11599 TBX21 is_marker_for DOID:12365 malaria ECO:0000270 expression pattern evidence used in manual assertion PMID:19338000 20200807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11366 STAT5A is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31783691 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11244 SPINK1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10508484 20080916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11244 SPINK1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11176522 20080916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:4676 uremia ECO:0000270 expression pattern evidence used in manual assertion PMID:23058473 20130118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:4752 multiple system atrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:9749615 20120313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:0060903 thrombosis ECO:0000270 expression pattern evidence used in manual assertion PMID:7495343 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:23566312 20130726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:11421854 20130726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:2143809 20130726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22577387 20140121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15271897 20200629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8264230 20170906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_marker_for DOID:3314 angiomyolipoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19265534 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:621 NAE1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14557245 20181030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:25412846 20160505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16095049 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:17401180 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11030 SLC4A4 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 is_marker_for DOID:2006 preretinal fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11004090 20090819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:12120 pulmonary alveolar proteinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12612307 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:12120 pulmonary alveolar proteinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16042774 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 is_marker_for DOID:2373 hereditary elliptocytosis ECO:0000270 expression pattern evidence used in manual assertion PMID:7742553 20170824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11367 STAT5B is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33042401 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10537 SARS1 is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26317032 20210210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17557119 20120106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29789 MTUS1 is_marker_for DOID:4948 gallbladder carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31882471 20200408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:21612826 20111222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:10754 otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:24690988 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:10754 otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:23380629 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26980034 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30747208 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10936 SLC18A3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21743130 20120124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12499913 20100402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15840687 20210916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17321 SP7 is_marker_for DOID:1712 aortic valve stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23578508 20230418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12888825 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9077 PLK1 is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14970859 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21037022 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:8283 peritonitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26601826 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21912640 20210215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:669 RHOC is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12237774 20080730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22246459 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7710 NDUFS3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28242297 20181109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22266663 20130607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:1727 retinal vein occlusion ECO:0000270 expression pattern evidence used in manual assertion PMID:21275514 20140513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21960570 20120730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:25142320 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17849422 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9071 PLG is_marker_for DOID:3490 Noonan syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20686427 20170726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17609 RASSF5 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20434789 20180110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16631442 20070622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16739871 20070622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11989 TOP2A is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:19051821 20091221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:18337154 20100928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9906 RBFOX2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:27239029 20230601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11121536 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:9120 amyloidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31474164 20210602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:12466 secondary hyperparathyroidism ECO:0000270 expression pattern evidence used in manual assertion PMID:22156488 20130107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:3495 extrahepatic bile duct adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24890221 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18416964 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17283572 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17157858 20120529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7861 NNMT is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17070307 20230815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7861 NNMT is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15682440 20230815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:14672505 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9346 PRDM1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32393998 20211210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19273 RPPH1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:27317124 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24119083 20200219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:12849 autistic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:26418275 20170313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8862 PF4V1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26283469 20230901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:8505 dermatitis herpetiformis ECO:0000270 expression pattern evidence used in manual assertion PMID:7738351 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8964914 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:31425778 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10943 SLC1A5 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26936531 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10943 SLC1A5 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33609949 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17284 POT1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18425352 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22421264 20130118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_marker_for DOID:11204 allergic conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17177679 20130920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8602 PAPPA is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16055491 20070912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16820601 20190122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17068 PALLD is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17404500 20100610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15754021 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18253 PARL is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24185965 20170509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:7543740 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:2021547 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18075785 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:4608 common bile duct neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:8766528 20100513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11195 SOX2 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23518916 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6769 SMAD3 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12883738 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15928670 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10808 SGCE is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28035468 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0050426 Stevens-Johnson syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9852250 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:557 kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14613268 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11939 TNFSF9 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16970683 20100330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24099634 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27991929 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_marker_for DOID:2893 cervix carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14675348 20080424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8610136 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:21886831 20111020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10671823 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15165031 20100527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:22596213 20130109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:4989 pancreatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21750433 20120509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20766 TUBA1A is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21262400 20170412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:27448842 20180723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:2255800 20110223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28551630 20191115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:2799 bronchiolitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:11112135 20110203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16274108 20200622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:20838376 20160919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:25755738 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9093 PLTP is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12835223 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43563 OIP5-AS1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33760168 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:10588595 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17662121 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10471 RUNX1 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31015363 20210406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:29368621 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:29391125 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 is_marker_for DOID:3319 lymphangioleiomyomatosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15994429 20080709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10661 SDC4 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:11372670 20090806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19067129 20101012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10345 RPL35A is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10880769 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12883738 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:8472 localized scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:7510487 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10468735 20130617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_marker_for DOID:5041 esophageal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33862112 20220113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:3492 mixed connective tissue disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19684145 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9299 PPP2CA is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18336616 20081030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22050177 20130108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9299 PPP2CA is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:14567976 20140718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11200 SOX4 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29882245 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:26216956 20210326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:21397211 20170721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11583 SERPINA7 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:8742570 20090806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18507686 20130919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19861 SYNE3 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22202438 20161122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:35876300 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_marker_for DOID:0080685 aortic dissection ECO:0000270 expression pattern evidence used in manual assertion PMID:28167124 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_marker_for DOID:0080685 aortic dissection ECO:0000270 expression pattern evidence used in manual assertion PMID:30787994 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23822878 20161027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_marker_for DOID:446 primary hyperaldosteronism ECO:0000270 expression pattern evidence used in manual assertion PMID:15080782 20210510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8590 PAK1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16705121 20230224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8590 PAK1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28055013 20230224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11925 TNFSF10 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18057577 20090901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17349568 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11254 SPOP is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26156804 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:9852717 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:14566 disease of cellular proliferation ECO:0000270 expression pattern evidence used in manual assertion PMID:14595671 20150216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 is_marker_for DOID:8544 chronic fatigue syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21619669 20120503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22098627 20120608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19764566 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9670 PTPRF is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:7769120 20071010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9670 PTPRF is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:9218523 20071010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:0050847 sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:20508215 20101018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8004 NRP1 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:34081912 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8004 NRP1 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:33082293 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23082052 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28132115 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32642408 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11366 STAT5A is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16133357 20080404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11366 STAT5A is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15609129 20080404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 is_marker_for DOID:1682 congenital heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29568912 20221101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:28843383 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17363529 20130815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12635 UTRN is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17031801 20080912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:2018 hyperinsulinism ECO:0000270 expression pattern evidence used in manual assertion PMID:25233041 20230530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23147503 20130320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9951 REG1A is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19016805 20150330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:11126396 20100510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9692 PTX3 is_marker_for DOID:0050073 invasive aspergillosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28487045 20200819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17075 TAB2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:34551195 20221114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:3042 allergic contact dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:7876550 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19317336 20101026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25371154 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10021 RIPK3 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:31080811 20210603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:874 bacterial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:24465168 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:874 bacterial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:22996209 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10782 SRSF11 is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:24244432 20160225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10959 SLCO1B1 is_marker_for DOID:3571 liver cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21625523 20220621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27798892 20210916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12626459 20140225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29391125 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29368621 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9031 PLA2G2A is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22173044 20120426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_marker_for DOID:11723 Duchenne muscular dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:9542584 20181116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16067 MYOCD is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:12920479 20230821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9772027 20181204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18992723 20181204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15292677 20130820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16696 SNW1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23696020 20160212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25641 RNLS is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15841207 20130912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10786 SRSF4 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22722453 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18565574 20080905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:25746691 20170405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17094408 20080318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:8515 Cor pulmonale ECO:0000270 expression pattern evidence used in manual assertion PMID:20669672 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7413 MTAP is_marker_for DOID:4608 common bile duct neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:15662124 20100503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:18997620 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33109573 20210622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 is_marker_for DOID:3030 mucinous adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15048136 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 is_marker_for DOID:3030 mucinous adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19954814 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 is_marker_for DOID:3030 mucinous adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17708554 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 is_marker_for DOID:3030 mucinous adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12717243 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15760641 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:7750940 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15951164 20161213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:25840803 20210609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10901 SKP2 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15351619 20091215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16 SERPINA3 is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29142239 20200805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10224365 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19958603 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:30686515 20191014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7850 NME2 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:11121795 20110606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:30309882 20210614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:3265 chronic granulomatous disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18155283 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22091998 20130109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:5425 ovarian hyperstimulation syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12695751 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:27378628 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_marker_for DOID:4914 esophagus adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24951052 20170918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_marker_for DOID:8649 tongue cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25749387 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12855641 20080729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:31770816 20201117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23787 TMEM63C is_marker_for DOID:1312 focal segmental glomerulosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:30900988 20210819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17175353 20190724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25683523 20190724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13452 SPAG5 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:35853859 20230117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:5052 melioidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23992406 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:5052 melioidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25370187 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9858 RAP1GAP is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19066305 20150318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:17467279 20151124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15582 MUC16 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1653472 20100520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:1759997 20120808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12694 VIPR1 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17611633 20120112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10471 RUNX1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26685324 20210408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29696816 20200128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16820601 20190122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:18691743 20120604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8609659 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_marker_for DOID:5041 esophageal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27188433 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:11612 polycystic ovary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22456311 20120709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31610782 20231016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28367087 20231016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:12518368 20170214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:29702526 20210212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:26063974 20210212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17284 POT1 is_marker_for DOID:1949 cholecystitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28643740 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11908 TNFRSF11A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28035468 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:615 leukopenia ECO:0000270 expression pattern evidence used in manual assertion PMID:7646991 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12381 TSPY1 is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17521702 20091222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11583 SERPINA7 is_marker_for DOID:1837 diabetic ketoacidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:6768790 20090806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:12466 secondary hyperparathyroidism ECO:0000270 expression pattern evidence used in manual assertion PMID:21335517 20110712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:20040765 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:2987 familial mediterranean fever ECO:0000270 expression pattern evidence used in manual assertion PMID:17067436 20120106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:6158114 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:19839997 20130116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:2755 Mycobacterium avium complex disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7640175 20160120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27221200 20200514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31041878 20200514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10940 SLC1A2 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9539131 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17949258 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:9111 cutaneous leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:20493664 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:7998 hyperthyroidism ECO:0000270 expression pattern evidence used in manual assertion PMID:14512089 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:13208 background diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19799585 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:30135138 20230612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30650 STRA6 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11358845 20221028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20110652 20100929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19855955 20100929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12730079 20100929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18188593 20080722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11086 SLIT2 is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:32213157 20230330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:32682061 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:22871339 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9868 RARRES2 is_marker_for DOID:10825 essential hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:24047472 20191126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7688 NDUFA5 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19760337 20181102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:19839997 20130116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15681497 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:11126396 20100510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11765 TGFA is_marker_for DOID:4948 gallbladder carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9542514 20100406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19716418 20151124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22419013 20220826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:23210442 20130320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15375487 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7516 MUC5B is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7657125 20100526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31242038 20210912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27027260 20210912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33058920 20210912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11246 SPINT1 is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:21898507 20150514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:7147 ankylosing spondylitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21873332 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:20631454 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22318854 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7958 NPY5R is_marker_for DOID:0050830 peripheral artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21468772 20151204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:0060081 triple-receptor negative breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17446929 20080320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14750179 20120521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10961 SLCO1B3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21625523 20220621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_marker_for DOID:3571 liver cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26172293 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7871 NONO is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33626912 20230213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11367 STAT5B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17047057 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11367 STAT5B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31485610 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11867 TMEFF2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16500022 20080314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11151 SNRPA is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24023061 20151209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16973658 20140512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23632475 20210903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8920779 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_marker_for DOID:1596 depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:29960014 20210401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:0080191 PTEN hamartoma tumor syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16773562 20170411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC is_marker_for DOID:3702 cervical adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9739406 20080409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12012 TPM3 is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28677753 20180917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10840 SHC1 is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17596878 20071212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_marker_for DOID:0060108 brain glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:33900414 20220307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20079717 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11141 SNCG is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:18577885 20120313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11141 SNCG is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:10557341 20120313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9452 PROCR is_marker_for DOID:12365 malaria ECO:0000270 expression pattern evidence used in manual assertion PMID:27671831 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 is_marker_for DOID:0050933 ovarian serous carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25455994 20210112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:8463 corneal ulcer ECO:0000270 expression pattern evidence used in manual assertion PMID:16251127 20130925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1112 NCAPH is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32945371 20220217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11068 SLC8A1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21382638 20180613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 is_marker_for DOID:2316 brain ischemia ECO:0000270 expression pattern evidence used in manual assertion PMID:10867793 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9906 RBFOX2 is_marker_for DOID:1682 congenital heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27670201 20230607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7637 NAP1L1 is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12935928 20141112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7569 MYH11 is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:30004237 20180831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19686 SEPHS2 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10658 SDC1 is_marker_for DOID:8567 Hodgkin's lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9746758 20150220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10901 SKP2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19450994 20091214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31031974 20220309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6769 SMAD3 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28086903 20200807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10922 SLC16A1 is_marker_for DOID:3319 lymphangioleiomyomatosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29885404 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:10936861 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8912 PHB1 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16426920 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17652277 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:10353322 20071205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_marker_for DOID:182 calcinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18422975 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21145542 20161212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16901349 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8253361 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8127 OGT is_marker_for DOID:1712 aortic valve stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22128088 20141119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19723147 20110425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17637221 20110425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_marker_for DOID:686 liver carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:3018923 20190926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:5614 eye disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16146574 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:17452405 20121129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9379002 20210510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11246 SPINT1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9743567 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7634 NAIP is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20967871 20220716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9077 PLK1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15785925 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12517 UCP1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24498895 20150615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17257 SPDEF is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18567002 20080804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11150 SNRNP70 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24023061 20151209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:5052 melioidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18008257 20210526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10560656 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8861 PF4 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:34556381 20230626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10718 SELE is_marker_for DOID:8481 rheumatic myocarditis ECO:0000270 expression pattern evidence used in manual assertion PMID:22987107 20180724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9858 RAP1GAP is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19147557 20150318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_marker_for DOID:13100 intracranial vasospasm ECO:0000270 expression pattern evidence used in manual assertion PMID:19589197 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11768 TGFB2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15057430 20170919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20624254 20120601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17983427 20080730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21122381 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27451128 20190617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7516 MUC5B is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11845304 20110422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7516 MUC5B is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17255563 20110422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23038275 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20303649 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11751498 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16274046 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:4948 gallbladder carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22407314 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10773 SFN is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16773180 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10773 SFN is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15102672 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15764076 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10719 SELENBP1 is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28990066 20221025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11254 SPOP is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25204354 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:16364499 20090506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:12791592 20090506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3145 TRPV5 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:19198857 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9277 PPM1D is_marker_for DOID:0060071 pre-malignant neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:12021784 20070118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:13276 Mycoplasma pneumoniae pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:20416219 20101115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:114 heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22038201 20130723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:114 heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22087201 20130723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:15642275 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21790972 20120601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31454 TXNDC8 is_marker_for DOID:12336 male infertility ECO:0000270 expression pattern evidence used in manual assertion PMID:15181017 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24886427 20190705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9906 RBFOX2 is_marker_for DOID:11722 myotonic dystrophy type 1 ECO:0000270 expression pattern evidence used in manual assertion PMID:32109384 20230606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16274108 20200622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10547197 20100407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_marker_for DOID:255 hemangioma ECO:0000270 expression pattern evidence used in manual assertion PMID:10665907 20170424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:3319 lymphangioleiomyomatosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15994429 20080709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:0060108 brain glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:33900414 20220307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10024688 20130307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31432177 20211018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7671 NCOA4 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11161850 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:676 juvenile rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15209962 20120109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 is_marker_for DOID:11650 bronchopulmonary dysplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:11435254 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24494798 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18391 SCGB3A2 is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21385388 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11363 STAT2 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:26216956 20210326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20938052 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_marker_for DOID:10487 Hirschsprung's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8943115 20111222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9951 REG1A is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:2394826 20150327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10776 SFRP1 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15972578 20080725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:10588595 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:0060071 pre-malignant neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:18779194 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19347046 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10543276 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:9743 diabetic neuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17636064 20090729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10946084 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_marker_for DOID:6193 epithelioid sarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19033866 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31719794 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18500170 20210408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11653 TCN2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:1059479 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9956 RELB is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12452071 20140103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:1495 cystic echinococcosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21923667 20200113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6731 NCR1 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20525973 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:23400706 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19269054 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15523596 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7532 MX1 is_marker_for DOID:11166 Human papillomavirus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28736973 20210407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:1884 viral hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17212643 20190725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18295348 20101012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:12818410 20090729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:1440 Machado-Joseph disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21743141 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21800286 20181116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17868458 20080403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17662121 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19926600 20230530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14107 PMEPA1 is_marker_for DOID:1984 rectal benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:11568975 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12429967 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18338983 20090506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20209 SOX2-OT is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:27317124 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17672936 20080715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:31321740 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10477 RXRA is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19396032 20100406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9083 PLOD3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29059470 20230105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:1852102 20071205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14871 PPP1R14A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28035468 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15635817 20110225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10786 SRSF4 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9865741 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10943 SLC1A5 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24762957 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9346 PRDM1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31100710 20211209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:14514395 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15888207 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9031 PLA2G2A is_marker_for DOID:11204 allergic conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21042565 20120427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20456 TRAF7 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31730901 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:9655 oral mucosa leukoplakia ECO:0000270 expression pattern evidence used in manual assertion PMID:23776093 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9165 SEPTIN4 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12695511 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12304 TRIP10 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12604778 20160921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:14652638 20090729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6772 SMAD6 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31874165 20220624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27245430 20190521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20824709 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17557119 20120106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:3192 neurilemmoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22555941 20120723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19904265 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16466 SUFU is_marker_for DOID:3073 brain glioblastoma multiforme ECO:0000270 expression pattern evidence used in manual assertion PMID:30790292 20220112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:24119107 20150825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17512313 20090818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19169037 20130422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:1577 limited scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:22461185 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26432329 20211026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:9470 bacterial meningitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16786330 20210526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:11123 Henoch-Schoenlein purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:9543574 20161006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28041912 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:23026026 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11918 TNFRSF4 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28086903 20200807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15632 TLR8 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12663931 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28687713 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8602 PAPPA is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16614002 20070912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11877 TMPRSS3 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14695172 20100520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16 SERPINA3 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17261175 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20439183 20130116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11602 TBX3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30578408 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11602 TBX3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22811581 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11602 TBX3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26922018 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11602 TBX3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29295731 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11765 TGFA is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:1401070 20100406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27962 STING1 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24367701 20200926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21520176 20120529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18029454 20090828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12826049 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_marker_for DOID:2513 basal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22436579 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8861 PF4 is_marker_for DOID:2988 antiphospholipid syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:26283469 20230901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9298 PPP1R9B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23591196 20150528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18270948 20080318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30361 RPP25 is_marker_for DOID:12849 autistic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:20632321 20150220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30237408 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11926 TNFSF11 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:18298349 20081215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11445799 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9216212 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10931370 20170214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:37294500 20230906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:2946878 20230906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23768700 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:12449 aplastic anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24028718 20160429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19492245 20120420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20434574 20100518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28743125 20220407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24248694 20220407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_marker_for DOID:2526 prostate adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7524068 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22245727 20220510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19605646 20140116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9692 PTX3 is_marker_for DOID:1003 pelvic inflammatory disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21679133 20200819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11163 SNRPG is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24080422 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:3314 angiomyolipoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22737271 20170406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15385128 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7941 NPPC is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8743538 20070910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7941 NPPC is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8117275 20070910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18414 UCN2 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:12076554 20111010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:14453 farmer's lung ECO:0000270 expression pattern evidence used in manual assertion PMID:8466130 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:8692 myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23772643 20161007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31932471 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21427447 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:22199264 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:24912849 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6731 NCR1 is_marker_for DOID:635 acquired immunodeficiency syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:27382604 20201117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_marker_for DOID:7305 astroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26286747 20180816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18336589 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23908180 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8948 SERPINA4 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:8950506 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:0050433 fatal familial insomnia ECO:0000270 expression pattern evidence used in manual assertion PMID:30048013 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:1682406 20100405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:9643 babesiosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25539588 20170104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:2526 prostate adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15073126 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 is_marker_for DOID:8161 thyroid gland Hurthle cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19924240 20120517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18617777 20100318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10761 SETDB1 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:23815974 20141117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:0050625 biliary tract benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:18475301 20100518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21508170 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20732852 20120621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11799 THRB is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12082618 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27998236 20201002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15667 MTPN is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:8508536 20150114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14466 NDRG4 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:22399192 20130729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16806 UBR5 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29944885 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18431720 20080708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:1727 retinal vein occlusion ECO:0000270 expression pattern evidence used in manual assertion PMID:15213845 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18644848 20090821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8799 PDGFA is_marker_for DOID:2526 prostate adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7524068 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:12969265 20210622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:12393744 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18373357 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:23946637 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:11074537 20160420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:8914465 20160420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24244675 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31932471 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29844416 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20610 PHLPP1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18336616 20081030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11128 SNAI1 is_marker_for DOID:9655 oral mucosa leukoplakia ECO:0000270 expression pattern evidence used in manual assertion PMID:28939076 20220209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:24334449 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12516 UCN is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11087261 20071016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12516 UCN is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:14577573 20071016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7463 MTNR1A is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21994366 20150128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14931 SIRT3 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:23397292 20140925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15117849 20070503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:13088 periventricular leukomalacia ECO:0000270 expression pattern evidence used in manual assertion PMID:8652010 20170517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:16209246 20130611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9065 PLCG1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33077911 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21410593 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15191676 20130308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:0080797 nasal type extranodal NK/T-cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17225522 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15582 MUC16 is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19122828 20130926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:12500222 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:18074478 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_marker_for DOID:5520 head and neck squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22081374 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11602 TBX3 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25628943 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7545 MYB is_marker_for DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21853052 20160902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18646321 20090504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11929177 20100929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:21819559 20120508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14600787 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18283638 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9581679 20211109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16101174 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11285 SRD5A2 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15212687 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23213087 20190917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11246 SPINT1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11948120 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14985451 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30789971 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21839130 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8912 PHB1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17465217 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:0081267 graft-versus-host disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16393253 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:635 acquired immunodeficiency syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:8548330 20170515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18000229 20080421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8977 PIK3CD is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24523440 20180816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11389 STK11 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18245476 20080404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16067 MYOCD is_marker_for DOID:10230 aortic atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33035679 20230821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM is_marker_for DOID:12140 Chagas disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22199233 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:10588 adrenoleukodystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:23185624 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11680592 20100526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:4033 bacterial gastritis ECO:0000270 expression pattern evidence used in manual assertion PMID:18321350 20210526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:11709459 20160420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7714 NDUFS7 is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:20368511 20120702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8799 PDGFA is_marker_for DOID:2696 Leydig cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:11994382 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9592 PTGDS is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:11882588 20071002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21283009 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21059230 20110728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16315781 20110728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:29951173 20180820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33042401 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10939 SLC1A1 is_marker_for DOID:4752 multiple system atrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:24304186 20161018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26956052 20180816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:1596865 20160215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:9408 acute myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:32595526 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19960788 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10783 SRSF2 is_marker_for DOID:5410 pulmonary neuroendocrine tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:23518498 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:12888825 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:9368 keratoconjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15875531 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18190825 20080403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28981 TUT4 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21453498 20160818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30713804 20210915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30013992 20210915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26816554 20210915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29875879 20210915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30123088 20210714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_marker_for DOID:9065 leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:23989888 20200805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11633 TCF3 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25375219 20170915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11633 TCF3 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24454819 20170915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:4971 myelofibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23462118 20160429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:2799 bronchiolitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:18347569 20100927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26908446 20190322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17761 TREM2 is_marker_for DOID:4166 syphilis ECO:0000270 expression pattern evidence used in manual assertion PMID:32117023 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:5773 oral submucous fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23776093 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11195 SOX2 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22899292 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12435 TXN is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:12870673 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:14977830 20170811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11904 TNFRSF10A is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16865223 20080314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18219831 20140121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9113 PML is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:22906876 20210203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:19644070 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9065 PLCG1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1683701 20080819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:13641 exfoliation syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19628957 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9060 PLCD1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8534418 20181116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22788914 20130225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16256342 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3708 VEGFD is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21410412 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18633634 20110408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23098507 20210812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:7537567 20100914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20025970 20170804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:17326817 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:0002116 pterygium ECO:0000270 expression pattern evidence used in manual assertion PMID:21892527 20120730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10452 RRM2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19002265 20210603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15526815 20110422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10931429 20110422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9402 PRKCG is_marker_for DOID:3525 middle cerebral artery infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:14688616 20180712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11765 TGFA is_marker_for DOID:3892 insulinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8712689 20100406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:11802251 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:0050830 peripheral artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9201602 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21136704 20220314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33739034 20220314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11728 TERF1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20127252 20100322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32380498 20210212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27465786 20210212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8179300 20091005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8601 REG3A is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10550309 20150304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_marker_for DOID:9477 pulmonary embolism ECO:0000270 expression pattern evidence used in manual assertion PMID:10936861 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25566 SETD5 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30616239 20230110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14466 NDRG4 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22489821 20130729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17899287 20181005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17257131 20091223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:9628235 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16899829 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25545245 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:15944724 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16253647 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7703 NDUFB8 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26605748 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11104 SMARCC1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32606978 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14011 SMC2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31357676 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10940 SLC1A2 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9100675 20170925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21743150 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11249065 20100621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:37126 UCA1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26655272 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15345656 20161128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20500811 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8564092 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8569184 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16042774 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16274485 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:26928604 20160427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9065 PLCG1 is_marker_for DOID:0050424 familial adenomatous polyposis ECO:0000270 expression pattern evidence used in manual assertion PMID:8174133 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9445 PRL is_marker_for DOID:9993 hypoglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16617309 20071001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18799869 20110224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18396779 20110224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32594 PREX1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19305425 20091120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11830 TK1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15583816 20100322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17942895 20080428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17094378 20210406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_marker_for DOID:3627 aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:25465469 20220926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8004 NRP1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31880322 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:1712 aortic valve stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20211333 20130107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7957 NPY2R is_marker_for DOID:0050830 peripheral artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21468772 20151204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:3512 neurofibrosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10554031 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:1520 colon carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1655258 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:10772 thrombotic thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:7740478 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11140 SNCB is_marker_for DOID:11870 Pick's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12410393 20120314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12384247 20181109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:4248 coronary stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15569000 20070503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16820601 20190122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:0050902 medulloblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11451203 20140225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15377545 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11344 ST14 is_marker_for DOID:4441 dysgerminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16439987 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17969407 20080708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8140855 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18423831 20101027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:2366 West Nile fever ECO:0000270 expression pattern evidence used in manual assertion PMID:19790244 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES is_marker_for DOID:11624 penile benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:14871981 20080903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:9306962 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14684867 20120521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10452 RRM2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21139803 20110623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16083599 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21876460 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7956 NPY1R is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:15337376 20071003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18372911 20180219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15666389 20180219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:13359 Ehlers-Danlos syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:24399159 20160429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:9111 cutaneous leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:9892499 20140902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9122 PMS2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19124481 20091214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16496379 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:18413499 20110124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:18098375 20110124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:12500222 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:18074478 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27314562 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3708 VEGFD is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17970053 20091223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12669 VDAC1 is_marker_for DOID:0080855 Parkinsonism ECO:0000270 expression pattern evidence used in manual assertion PMID:24825319 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9848 RANBP2 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:19171422 20150318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:23858718 20140213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19724911 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21162967 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:24519975 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10887 SIX1 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17409410 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:14256 adult-onset Still's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24387171 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17598012 20090805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26159923 20220622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32588907 20220622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23696029 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26389641 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23528898 20130404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7957 NPY2R is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:15337376 20071003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8799 PDGFA is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8619189 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9864 RARA is_marker_for DOID:3324 mood disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:19596122 20131030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27184481 20210624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:9007 sudden infant death syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12563064 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26695082 20180110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7517 MUC6 is_marker_for DOID:3030 mucinous adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15998373 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11026 SLC3A2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22110199 20220622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11026 SLC3A2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25084765 20220622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:15467329 20110801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:9767551 20161006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18336616 20081030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22210567 20130225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30532780 20220202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_marker_for DOID:9976 heroin dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:32506472 20231010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10524 SALL1 is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23822878 20161128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17970044 20111025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23906871 20220510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:12783 migraine without aura ECO:0000270 expression pattern evidence used in manual assertion PMID:21293918 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 is_marker_for DOID:0050741 alcohol dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:21955155 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:11204 allergic conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17177679 20130920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:21939825 20130404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11141 SNCG is_marker_for DOID:3981 pantothenate kinase-associated neurodegeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:10934140 20120313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15785307 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:0111046 platelet-type bleeding disorder 10 ECO:0000270 expression pattern evidence used in manual assertion PMID:18820218 20170809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19820419 20100317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:0060574 von Willebrand's disease 2 ECO:0000270 expression pattern evidence used in manual assertion PMID:16409463 20180124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6773 SMAD7 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15661223 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11757 TFF3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16467092 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9951 REG1A is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11343228 20150602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11370 STAU1 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33381146 20230123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20607726 20120109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16806 UBR5 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32934672 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11549509 20080819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:10966 lipoid nephrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17890747 20121116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18538940 20140924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_marker_for DOID:5241 hemangioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27388534 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_marker_for DOID:114 heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12916000 20221027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_marker_for DOID:114 heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26597775 20221027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16639 SRRM2 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20161708 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17149610 20080829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11696817 20080829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30635 SOX30 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30312695 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_marker_for DOID:0050610 oral cavity carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:27499128 20200605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17949258 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19328014 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10294 RPE65 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16181461 20140917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9664 PTPRA is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16338072 20220304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_marker_for DOID:264 hemangiopericytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26951238 20221110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:21223646 20120103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19317795 20090810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:21722073 20120608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10771 SF3B4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29059470 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10771 SF3B4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30391496 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16769024 20190206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:26861455 20190206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:1270 hereditary hemorrhagic telangiectasia ECO:0000270 expression pattern evidence used in manual assertion PMID:15907823 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30620 PDGFD is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21098708 20180213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4502 PTGDR2 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19230460 20110708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:10003 sensorineural hearing loss ECO:0000270 expression pattern evidence used in manual assertion PMID:14587217 20140515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26149137 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8862 PF4V1 is_marker_for DOID:2988 antiphospholipid syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:26283469 20230901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 is_marker_for DOID:3702 cervical adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10727981 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:6543 acne ECO:0000270 expression pattern evidence used in manual assertion PMID:18241264 20140505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:6543 acne ECO:0000270 expression pattern evidence used in manual assertion PMID:20726329 20140505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15800977 20190628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24759835 20190628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:21906646 20120503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_marker_for DOID:5485 synovial sarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26520417 20210624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7669 NCOA2 is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:22011668 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:20714746 20140513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:13810 familial hypercholesterolemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19004443 20170726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10839 SHBG is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18346991 20091015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11366 STAT5A is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33042401 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7670 NCOA3 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12725419 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP is_marker_for DOID:10230 aortic atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17045893 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19967414 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21757867 20150828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17018277 20150828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:12808329 20070914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15271694 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19077 NCR3 is_marker_for DOID:635 acquired immunodeficiency syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:27382604 20201117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12694 VIPR1 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17611633 20120112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17575 SPEN is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32641685 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:10241 thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11732868 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:21311206 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19506087 20090818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10543276 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_marker_for DOID:0050804 glioblastoma proneural subtype ECO:0000270 expression pattern evidence used in manual assertion PMID:22157621 20180817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16629 RAPGEF3 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:18323524 20150319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11246 SPINT1 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16273651 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9896 RBM10 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32572914 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8777922 20131108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9896 RBM10 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29085465 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:20846669 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:14633242 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9847 RANBP1 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:25341891 20150311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 is_marker_for DOID:0050700 cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:12791592 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17466450 20080707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17374529 20080707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19171406 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26279756 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30650 STRA6 is_marker_for DOID:13641 exfoliation syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:30986821 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19210958 20090819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:18559366 20110707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:30761586 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33658322 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:11981 morbid obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17273651 20070907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17020653 20090818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0050685 small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8624296 20100914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11947 TNNI3 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12221049 20161128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:13636 Fanconi anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8438880 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:13636 Fanconi anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24021704 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:19539717 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12488200 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11724 TEK is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12814387 20070423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18211966 20100927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11588 TBP is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15193429 20111214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:3307 teratoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12168080 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_marker_for DOID:231 motor neuron disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12200626 20110531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:8622 measles ECO:0000270 expression pattern evidence used in manual assertion PMID:11802251 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23374247 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11985 TOMM70 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:25022898 20171222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_marker_for DOID:0080365 endometrial hyperplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:15536334 20080424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22456124 20211123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17599561 20100927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:20038946 20120220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11576837 20080312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14006 TRPV6 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15017584 20080827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11827 TJP1 is_marker_for DOID:4948 gallbladder carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19184677 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16878360 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2154 PLK3 is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14970859 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9346 PRDM1 is_marker_for DOID:0050745 diffuse large B-cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22321048 20211209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18619052 20090902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:11723073 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11914 TNFRSF18 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:11396 pulmonary edema ECO:0000270 expression pattern evidence used in manual assertion PMID:9628235 20100914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:31472145 20220519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19760965 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_marker_for DOID:3347 osteosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31829261 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:1875 impotence ECO:0000270 expression pattern evidence used in manual assertion PMID:11596671 20090818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9954 REL is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10713699 20080910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16410746 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:12132 granulomatosis with polyangiitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20156770 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11898 TNFAIP6 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16650051 20140107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18348659 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10771 SF3B4 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28351319 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19077 NCR3 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:17553896 20201109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10485 RYR3 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:3114 serous cystadenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16012716 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30161254 20210219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:11963 esophagitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28370814 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11823 TIMP4 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16940965 20080312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10651022 20180207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18625222 20180207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15026365 20091217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:8444271 20140108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11823 TIMP4 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15816637 20080312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10887 SIX1 is_marker_for DOID:3192 neurilemmoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19901965 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9068 PLD2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11185526 20080820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:19286849 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:1389 polyneuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:9201602 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:643 progressive multifocal leukoencephalopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:33903203 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:643 progressive multifocal leukoencephalopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:30761586 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:9477 pulmonary embolism ECO:0000270 expression pattern evidence used in manual assertion PMID:23562569 20130722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:15226628 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26069251 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:18693542 20130305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0110429 dilated cardiomyopathy 1H ECO:0000270 expression pattern evidence used in manual assertion PMID:14676433 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12237774 20080730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18575772 20080730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15514585 20080409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10961 SLCO1B3 is_marker_for DOID:2998 testicular cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21625523 20220621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10773 SFN is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17645415 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30620 PDGFD is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33381146 20230123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7516 MUC5B is_marker_for DOID:10754 otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:14690056 20130924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11366 STAT5A is_marker_for DOID:0080909 castration-resistant prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23660011 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24691584 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10961 SLCO1B3 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25625007 20220621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28774887 20191218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23725445 20130621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:3891 placental insufficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:26903689 20170726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_marker_for DOID:11202 primary hyperparathyroidism ECO:0000270 expression pattern evidence used in manual assertion PMID:23447517 20130404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11602 TBX3 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27553355 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18633634 20110408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9906 RBFOX2 is_marker_for DOID:9955 hypoplastic left heart syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:27485310 20230606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7644 NASP is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20164540 20141112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27748324 20200522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23460043 20130404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10901 SKP2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19350629 20091215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:16518755 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18234283 20080819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:11132 prostatic hypertrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:25546515 20161130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16803522 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:9255 frontotemporal dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:29391125 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28197630 20220128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9355 PRDX5 is_marker_for DOID:10459 common cold ECO:0000270 expression pattern evidence used in manual assertion PMID:18219526 20210203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11254 SPOP is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28927035 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:19953283 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11741 TFAM is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:21862610 20120717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11204 SOX9 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31221478 20220406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11195 SOX2 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:614 lymphopenia ECO:0000270 expression pattern evidence used in manual assertion PMID:2324681 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12485 UBE2I is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16407042 20081007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14931 SIRT3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23139766 20140925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:21885493 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_marker_for DOID:11206 opioid abuse ECO:0000270 expression pattern evidence used in manual assertion PMID:31710992 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8882 PFN2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:0050697 chorioamnionitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19332995 20101026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10498642 20220602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:8677 perinatal necrotizing enterocolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:1304722 20120531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22863432 20130723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 is_marker_for DOID:633 myositis ECO:0000270 expression pattern evidence used in manual assertion PMID:16574722 20160224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:20980160 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:8064230 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9235 PPARD is_marker_for DOID:4607 biliary tract cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18497548 20100513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23826993 20160218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24887488 20211129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20145615 20211129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21953673 20130116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8907 PGM3 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:508567 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11161 SNRPE is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22740892 20160209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9350073 20130814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23940514 20130814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30048 PIR is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31396300 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29602 PDPN is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17951198 20080416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23485997 20220808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15888251 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:10697556 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21484243 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17683510 20220309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20964562 20220309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:11650 bronchopulmonary dysplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:25140773 20170811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17020653 20090818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12516 UCN is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:14577573 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10961 SLCO1B3 is_marker_for DOID:3007 breast ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17760952 20220617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10887 SIX1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9770533 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19237221 20090902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26861460 20200210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10761 SETDB1 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17142323 20141117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10294 RPE65 is_marker_for DOID:2513 basal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16181461 20140917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19391 SOCS3 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26485275 20220128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21484243 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22112193 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:4977 lymphedema ECO:0000270 expression pattern evidence used in manual assertion PMID:20889885 20120529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7690 NDUFA6 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26943237 20181102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_marker_for DOID:8544 chronic fatigue syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21906029 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10718 SELE is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32458111 20200626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:12177 common variable immunodeficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:22697005 20120723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17026804 20080819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10901 SKP2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18922157 20091215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22799322 20200210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29924446 20200210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23922662 20200210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12657964 20100526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16049287 20100526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19830844 20101026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28367087 20231016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:18098375 20110124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32663515 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3708 VEGFD is_marker_for DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:21410412 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:0080745 polymyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:11055823 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12064512 20110602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32184656 20220615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29602 PDPN is_marker_for DOID:3304 germinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16718353 20080416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17295901 20080903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9314 PPP3CA is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18208803 20080318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 is_marker_for DOID:2870 endometrial adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32186778 20230921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:8730430 20130820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:7665222 20100513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:5052 melioidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20142364 20120608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7670 NCOA3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20166126 20120228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_marker_for DOID:0050625 biliary tract benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:18475301 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18577885 20120312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21034455 20120928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10471 RUNX1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15386419 20210406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:10595 Charcot-Marie-Tooth disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21659498 20130108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:24231353 20231019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11158 SNRPD1 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24080422 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10773 SFN is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11896620 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16704535 20111011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9305 PPP2R2B is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:21746932 20120118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:13550 angle-closure glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21139981 20130925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16651309 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:114 heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15938827 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23077 OTUB1 is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22279542 20140715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18538319 20211123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22911366 20211123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8980 PIK3R2 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18663744 20170913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC is_marker_for DOID:11758 iron deficiency anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15104997 20160426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC is_marker_for DOID:11758 iron deficiency anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:17877204 20160426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11244 SPINK1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16327984 20080916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:399 tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20537163 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16284739 20100929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17667242 20100929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:24275554 20230414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:0050157 cryptogenic organizing pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:21144722 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6731 NCR1 is_marker_for DOID:0060704 lymphoproliferative syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22105417 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22901214 20211101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:11204 allergic conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16023216 20140114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15492852 20080320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18215354 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12131365 20080709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_marker_for DOID:0111535 progressive osseous heteroplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:18422975 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:27275197 20160919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15917 PLCB1 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:20516454 20160922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12663495 20080723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 is_marker_for DOID:10159 osteonecrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16677567 20200624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 is_marker_for DOID:10159 osteonecrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16547717 20200624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8981 PIK3R3 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:28260020 20180816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18416056 20080905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18979373 20090504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9362 PRG2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16982448 20180226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9362 PRG2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:22022864 20180226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9362 PRG2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:24450586 20180226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11989 TOP2A is_marker_for DOID:11624 penile benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:18489530 20091221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16804722 20091221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23508 STOX1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20110611 20161019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9075 SERPINF2 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9184412 20070613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10908 SLC11A2 is_marker_for DOID:0050425 restless legs syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21710629 20120301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:25487473 20170410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:22560388 20160429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:27411924 20220527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22156911 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7849 NME1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:7614395 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10785 SRSF3 is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23748175 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8574 PAFAH1B1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21569763 20170216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19578108 20130620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11989 TOP2A is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16556665 20091221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11989 TOP2A is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12438255 20091221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17974967 20121206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:22840297 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11494 SYN1 is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:22885997 20180523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:3713 ovary adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18709641 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22483234 20170421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16517573 20110125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP is_marker_for DOID:2988 antiphospholipid syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:26283469 20230901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19695831 20191024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11246 SPINT1 is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16492908 20150728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:8725 vascular dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:18577885 20120312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18391 SCGB3A2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:17218572 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18064 RNF39 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:23566312 20130726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 is_marker_for DOID:1911 endodermal sinus tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:23347651 20161103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11009 SLC2A4 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21645024 20230530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:2451 protein S deficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:20002538 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15582 MUC16 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19377061 20100520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:9884 muscular dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:10235436 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_marker_for DOID:10320 asbestosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10950882 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 is_marker_for DOID:3265 chronic granulomatous disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18155283 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11935372 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 is_marker_for DOID:264 hemangiopericytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26951238 20221110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:7736 retinal telangiectasia ECO:0000270 expression pattern evidence used in manual assertion PMID:23221067 20140404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20823226 20151125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15312366 20080819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11723 TMBIM6 is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12875974 20080407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:17045018 20090507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31057717 20210915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_marker_for DOID:0080827 human cytomegalovirus infection ECO:0000270 expression pattern evidence used in manual assertion PMID:29752343 20210331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19186046 20101026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10788 SRSF6 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21082031 20160303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12014 TPMT is_marker_for DOID:0050589 inflammatory bowel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17026564 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:4896 bile duct adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24131658 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22950 PREX2 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:25151370 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16269310 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10248 RNY5 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:27317124 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:31723628 20210401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26045769 20200605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18336603 20130305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10194154 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10383132 20080331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31153693 20220128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_marker_for DOID:9446 cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:30690835 20190926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12663931 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:2313102 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10894 PRMT5 is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17437848 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_marker_for DOID:4948 gallbladder carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18946757 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:114 heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15670203 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:2696 Leydig cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:11994382 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:20878445 20180720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16799645 20080403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:8677 perinatal necrotizing enterocolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19824106 20101001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:30664618 20210121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_marker_for DOID:2512 nevoid basal cell carcinoma syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15308259 20170331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:11656 cicatricial pemphigoid ECO:0000270 expression pattern evidence used in manual assertion PMID:7750940 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:799 varicose veins ECO:0000270 expression pattern evidence used in manual assertion PMID:26808710 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_marker_for DOID:0050700 cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:26098115 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_marker_for DOID:4202 brain stem glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:20197468 20180723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26121037 20200522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20569722 20130306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10471 RUNX1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17094378 20210406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22434528 20130220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:21111729 20110527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19912632 20110527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:23108410 20190628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9650 PTPN2 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:27746364 20220930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23661793 20201120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20729266 20130215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:3458 breast adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7678777 20100513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24612059 20211123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12381 TSPY1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16106251 20091222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10935 SLC18A2 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19223416 20110425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16945639 20080908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15631 TLR7 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:2216 factor V deficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:18695002 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10969 SLC22A5 is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12802501 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12698 VLDLR is_marker_for DOID:12849 autistic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:15820235 20100510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11768 TGFB2 is_marker_for DOID:1520 colon carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11166150 20170918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7962 NR1D1 is_marker_for DOID:14018 alcoholic liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24497272 20151210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16005367 20090818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:19623180 20091222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:3702 cervical adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17354237 20080708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18336616 20081030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 is_marker_for DOID:9884 muscular dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:3513005 20170712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9031 PLA2G2A is_marker_for DOID:1596 depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:22331023 20120426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13094 RNF114 is_marker_for DOID:12336 male infertility ECO:0000270 expression pattern evidence used in manual assertion PMID:12621547 20150219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8728 PCMT1 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15857672 20151207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27929120 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:22840297 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_marker_for DOID:10772 thrombotic thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:10936861 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:20665591 20151209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_marker_for DOID:13068 renal osteodystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:18480316 20130416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22245727 20220510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23906871 20220510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18222 RBFOX1 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:28949795 20230607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11742 TFAP2A is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:14752511 20110609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:1168 familial hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8914465 20160420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_marker_for DOID:3007 breast ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20978191 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16629790 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16421163 20130820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH is_marker_for DOID:8869 neuromyelitis optica ECO:0000270 expression pattern evidence used in manual assertion PMID:23316360 20200526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10761 SETDB1 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24673285 20141117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:21698055 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:6039 uveal melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11914216 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8000 NRGN is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9329454 20150323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14025 SLC5A7 is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:28420875 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:3121 gallbladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:37273108 20230612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22895562 20180607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:0060643 primary sclerosing cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26615570 20191112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16338763 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:21890195 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:3087 gingivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18206400 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12372 TSHB is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20651845 20200604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18253 PARL is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:20444421 20170509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12435 TXN is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:14677813 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11480790 20200210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:15998370 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11247 SPINT2 is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:21898507 20150514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17301 PCSK1N is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14746899 20070913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10901 SKP2 is_marker_for DOID:0080365 endometrial hyperplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:16080017 20091215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10194154 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11244 SPINK1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15963628 20080916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11140 SNCB is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11578596 20120314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9399 PRKCD is_marker_for DOID:10762 portal hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:17659678 20070925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18544126 20191108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10943 SLC1A5 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26279756 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:0050697 chorioamnionitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19591072 20210602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:27277012 20201203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16629790 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12562 UCK2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12149149 20110610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:1107 esophageal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15906366 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15878520 20140410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18122 SOX17 is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:25596186 20230614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18084 TRPV3 is_marker_for DOID:8881 rosacea ECO:0000270 expression pattern evidence used in manual assertion PMID:22189789 20121211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18787407 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16933058 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:33460763 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11904 TNFRSF10A is_marker_for DOID:3007 breast ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17011986 20080314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_marker_for DOID:769 neuroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8433391 20111222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_marker_for DOID:891 progressive myoclonus epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:22318854 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10962 SLCO2B1 is_marker_for DOID:3571 liver cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21625523 20220621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12614934 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:10487 Hirschsprung's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7807351 20111013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19827872 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP is_marker_for DOID:1168 familial hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:35734636 20230828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17284 POT1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25194444 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:32102936 20200302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21397006 20111221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11244 SPINK1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17306443 20080916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29789 MTUS1 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22153618 20200408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14006 TRPV6 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12458 UBA52 is_marker_for DOID:1520 colon carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8541345 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20299037 20180531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_marker_for DOID:1884 viral hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:24731448 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31910343 20220110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:3495 extrahepatic bile duct adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21537609 20220908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28120341 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:11204 allergic conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16023216 20140114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18957896 20120827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15112252 20220603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16 SERPINA3 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8620411 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7850 NME2 is_marker_for DOID:11132 prostatic hypertrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:7693635 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:22079325 20120531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:19953283 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:576 proteinuria ECO:0000270 expression pattern evidence used in manual assertion PMID:9591753 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:14984724 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:1687 neovascular glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9852717 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29602 PDPN is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16979138 20080416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_marker_for DOID:5614 eye disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16146574 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:1520 colon carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11166150 20170918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8912 PHB1 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18384941 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9221 POU5F1 is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17785371 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9221 POU5F1 is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18162782 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26300007 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:0050853 chronic venous insufficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:22737245 20120703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8039 NTSR1 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7700529 20150219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16784493 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:1798 pancreatic endocrine carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23463017 20190206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10536 SARDH is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30901224 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23770341 20190628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18647313 20111230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31874165 20220624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17618961 20070912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:8542113 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30743 TSLP is_marker_for DOID:10459 common cold ECO:0000270 expression pattern evidence used in manual assertion PMID:28471975 20200904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23211538 20220616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9066601 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:17667845 20110729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:8725 vascular dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:29391125 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 is_marker_for DOID:3892 insulinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8972754 20100621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12401 TTK is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10761 SETDB1 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:23943221 20141117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15582 MUC16 is_marker_for DOID:10140 dry eye syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22089171 20130923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8592643 20151203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10783 SRSF2 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21082031 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10502421 20080829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11443610 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9491 PRSS8 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11584061 20080421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14871981 20080903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14499677 20080903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19799585 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7516 MUC5B is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11680592 20100526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_marker_for DOID:1040 chronic lymphocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22569400 20160916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2154 PLK3 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15785925 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15734849 20090707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:0050589 inflammatory bowel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23642997 20160512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9315 PPP3CB is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:15820226 20180409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:23400706 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9221 POU5F1 is_marker_for DOID:4441 dysgerminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15371950 20080418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16 SERPINA3 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:2432615 20110805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23260200 20151201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:0111253 neurofibromatosis 1 ECO:0000270 expression pattern evidence used in manual assertion PMID:12930297 20140304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16619570 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11517 TAC1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:11031342 20110823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7432 MTHFD1 is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15068241 20170711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8541726 20140217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18282491 20130423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15088311 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15654008 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19286849 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21136704 20220308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:0060322 mastoiditis ECO:0000270 expression pattern evidence used in manual assertion PMID:24690988 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21531004 20121119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25763 SMG9 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:34456727 20230118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_marker_for DOID:0060036 intrinsic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:27249171 20221108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6769 SMAD3 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25375657 20220818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15621763 20160218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:17698377 20110425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31040266 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:2006 preretinal fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11004090 20090819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18353240 20140106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19391 SOCS3 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15331532 20091015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:7678609 20211109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:12148 alveolar echinococcosis ECO:0000270 expression pattern evidence used in manual assertion PMID:30141853 20191219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17441336 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:22050177 20130108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:23848218 20140520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15492805 20080708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9221798 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:9471 meningitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20584616 20120608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12076997 20111024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18254476 20110120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20842520 20110120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12766 NSD2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:34551195 20221114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:1040 chronic lymphocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:20956327 20160906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1436 S100G is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:4195 hyperglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16804411 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9844 RAMP2 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:11600589 20071009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11769 TGFB3 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8253361 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_marker_for DOID:676 juvenile rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21124648 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:11738074 20090818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17195062 20090818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11602 TBX3 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17031801 20080912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:3981 pantothenate kinase-associated neurodegeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:10934140 20120313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11914 TNFRSF18 is_marker_for DOID:321 tropical spastic paraparesis ECO:0000270 expression pattern evidence used in manual assertion PMID:28101786 20200831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11914 TNFRSF18 is_marker_for DOID:321 tropical spastic paraparesis ECO:0000270 expression pattern evidence used in manual assertion PMID:20945034 20200831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:12554 hemolytic-uremic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11777999 20161006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22270936 20120529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_marker_for DOID:6595 gastric tubular adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17259107 20210812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16104909 20080710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17644139 20080710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33609949 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31726270 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26936531 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18124 P2RY12 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:15304052 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18251 SELENOH is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18341631 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16399078 20130521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11140 SNCB is_marker_for DOID:8761 acute megakaryocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21264917 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7671 NCOA4 is_marker_for DOID:11612 polycystic ovary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16580389 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:10608 celiac disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17664137 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17337499 20230605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9047241 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27505074 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12693 VIP is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19476518 20120112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15926884 20070501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16841302 20080407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12237877 20080407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21376232 20120619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:11802251 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM is_marker_for DOID:799 varicose veins ECO:0000270 expression pattern evidence used in manual assertion PMID:26808710 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:11237381 20160218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11397 PLK4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21324136 20200521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30280776 20210519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15751 NAPB is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11244216 20151118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11161 SNRPE is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22876301 20160209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9392 PRKAR2B is_marker_for DOID:2999 granulosa cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:11994539 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10964 SLC22A18 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22237119 20220105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10964 SLC22A18 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25498886 20220105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11768 TGFB2 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:30686515 20191014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8033 NTRK3 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10209957 20100604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8033 NTRK3 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11295066 20100604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27289045 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26443326 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_marker_for DOID:0081294 neuronal intranuclear inclusion disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22318854 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:13514 venous tributary occlusion of retina ECO:0000270 expression pattern evidence used in manual assertion PMID:20714746 20141211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11281 SRA1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:27317124 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18008256 20101013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:19167648 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15714132 20100621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21526498 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21330466 20111222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:8534 gastroesophageal reflux disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21426732 20130215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20140016 20130215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11653 TCN2 is_marker_for DOID:2917 cryoglobulinemia ECO:0000270 expression pattern evidence used in manual assertion PMID:3574578 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:17259140 20090729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11344 ST14 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17163404 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6510 STMN1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28982915 20200320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26350900 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11155 SNRPB2 is_marker_for DOID:14566 disease of cellular proliferation ECO:0000270 expression pattern evidence used in manual assertion PMID:18519667 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:27328755 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18625222 20180207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11104 SMARCC1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32514535 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21479768 20130107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11195 SOX2 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21410764 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17255563 20110422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11689207 20111013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18731 PDCD1LG2 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23661793 20201120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21873362 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15010825 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:4074 pancreatic adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16733850 20161006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:28871240 20231019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_marker_for DOID:0060643 primary sclerosing cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28146070 20190521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19391 SOCS3 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:12888825 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9858 RAP1GAP is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18551404 20150318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18029454 20090828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:936 brain disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20847541 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:12241 beta thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18466174 20160218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 is_marker_for DOID:2862 glucosephosphate dehydrogenase deficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:21246053 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30681 TAB3 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:0050746 mantle cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16620968 20161014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:12120 pulmonary alveolar proteinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12612307 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:12120 pulmonary alveolar proteinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8652189 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR is_marker_for DOID:13949 interstitial cystitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22738385 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18166358 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17597401 20170914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15917 PLCB1 is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16820933 20160921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16733295 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10782 SRSF11 is_marker_for DOID:0060041 autism spectrum disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:24007566 20160225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27050164 20210914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26093090 20210914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:11586057 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15209464 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:9563 bronchiectasis ECO:0000270 expression pattern evidence used in manual assertion PMID:18221721 20170517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11774 TGFBR3 is_marker_for DOID:2870 endometrial adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15745937 20081028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16928692 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17110342 20080709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16005944 20080709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:21376786 20170411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21825243 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:18330639 20101018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:4028852 20110223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20956 PHACTR2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20590401 20120515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16164572 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11244 SPINK1 is_marker_for DOID:3702 cervical adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:2258083 20080916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15833166 20121116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18939350 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_marker_for DOID:8929 atrophic gastritis ECO:0000270 expression pattern evidence used in manual assertion PMID:23447517 20130404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:8979144 20160218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:6255 growth hormone secreting pituitary adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22580984 20170116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8795 PDE9A is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:25799991 20230324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_marker_for DOID:1591 renovascular hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:2240003 20210401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11989 TOP2A is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:11070118 20091221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:13544 low tension glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21421868 20140516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9404 PRKCI is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18538170 20091209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19825522 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9155717 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:678 progressive supranuclear palsy ECO:0000270 expression pattern evidence used in manual assertion PMID:11879807 20140521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:869 cholesteatoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22883581 20140115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8694545 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:669 RHOC is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12808121 20080729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:5614 eye disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16146574 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17119686 20080318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:24465168 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7525 MUSK is_marker_for DOID:437 myasthenia gravis ECO:0000270 expression pattern evidence used in manual assertion PMID:22218276 20200911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7525 MUSK is_marker_for DOID:437 myasthenia gravis ECO:0000270 expression pattern evidence used in manual assertion PMID:26025053 20200911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10475345 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11823 TIMP4 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17009974 20080312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19717975 20090902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9404 PRKCI is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12888898 20080418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4606 PDIA3 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24562544 20150409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29789 MTUS1 is_marker_for DOID:4866 salivary gland adenoid cystic carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25885343 20200408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:19953283 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_marker_for DOID:4608 common bile duct neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:10760693 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8742 PCP4 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14561813 20150401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7673 NCOR2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19904269 20091210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16190407 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12705 VNN1 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32663515 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:8717 decubitus ulcer ECO:0000270 expression pattern evidence used in manual assertion PMID:12692851 20140415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12894231 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19396459 20100518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:1040 chronic lymphocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:29658610 20200225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15173084 20200210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18647313 20110729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:341 peripheral vascular disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16115489 20070502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10911 SLC12A2 is_marker_for DOID:3525 middle cerebral artery infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:27798271 20190503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11366 STAT5A is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:31952546 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9918209 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15746567 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:21954878 20140521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:8236167 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22279551 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30145 PCGEM1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:27317124 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21085492 20110728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_marker_for DOID:12466 secondary hyperparathyroidism ECO:0000270 expression pattern evidence used in manual assertion PMID:23121374 20130417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16475698 20211123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10751 SELENOP is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:22261445 20160504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:22211766 20230530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9065 PLCG1 is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33466212 20220314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9298 PPP1R9B is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23764848 20150528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10810 SGK1 is_marker_for DOID:3603 mucinous cystadenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11994539 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11291 SRF is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:11893590 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9868 RARRES2 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23507574 20191126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:24744439 20170411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:8869 neuromyelitis optica ECO:0000270 expression pattern evidence used in manual assertion PMID:33317883 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19286849 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9216212 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11284 SRD5A1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17720776 20081222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:11612 polycystic ovary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15653207 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14511257 20110725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11583 SERPINA7 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:1867879 20090806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:1312 focal segmental glomerulosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22295953 20130116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:633 myositis ECO:0000270 expression pattern evidence used in manual assertion PMID:10399751 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10776 SFRP1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20420713 20100714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12487935 20080707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22607047 20130528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_marker_for DOID:3798 pleural empyema ECO:0000270 expression pattern evidence used in manual assertion PMID:10950882 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8949 SERPINB5 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26296971 20191007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29602 PDPN is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16528371 20080416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:0050589 inflammatory bowel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11780721 20120425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11588 TBP is_marker_for DOID:0050847 sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:14693397 20111214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23897704 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:10460 nasopharyngitis ECO:0000270 expression pattern evidence used in manual assertion PMID:23001130 20211123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 is_marker_for DOID:114 heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16508659 20090506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15949313 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:0080899 lung pleomorphic carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30300664 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:9810 polyarteritis nodosa ECO:0000270 expression pattern evidence used in manual assertion PMID:15965421 20140516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30681 TAB3 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:3347 osteosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22390931 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19500329 20091223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9841 RALBP1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17606711 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11633 TCF3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22564737 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18329693 20150728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17325663 20150728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:12895 keratoconjunctivitis sicca ECO:0000270 expression pattern evidence used in manual assertion PMID:10487957 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:1679 cystitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17659847 20130920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27572739 20210622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23440386 20211123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22456124 20211123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23371028 20211123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9811 RAD21 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32596342 20211022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:16806535 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:20159829 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:18413499 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:13810 familial hypercholesterolemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24720534 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15715404 20130925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11726 TEP1 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10498642 20220602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24203 OVCA2 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8616839 20081124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:12752594 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:17164945 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10485 RYR3 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12754735 20080819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21429417 20111221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11653 TCN2 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8754152 20160418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11026 SLC3A2 is_marker_for DOID:0080202 adenoid cystic carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23516127 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9314 PPP3CA is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:15820226 20180409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10791 SRSF9 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22178073 20160308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23147550 20140521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14311 NUAK1 is_marker_for DOID:13223 uterine fibroid ECO:0000270 expression pattern evidence used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11939 TNFSF9 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16596186 20100330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10908 SLC11A2 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19011085 20120301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7984 NR5A2 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28710032 20220831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23837838 20130722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0060643 primary sclerosing cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:9047083 20191018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:15979049 20070517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12337 TRPC5 is_marker_for DOID:0110429 dilated cardiomyopathy 1H ECO:0000270 expression pattern evidence used in manual assertion PMID:16950785 20150601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:13809 familial combined hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15262191 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_marker_for DOID:2600 laryngeal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20164024 20220112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20075511 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:0060669 cerebral cavernous malformation ECO:0000270 expression pattern evidence used in manual assertion PMID:19061355 20170411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9811 RAD21 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30546056 20211022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26596839 20211129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:83 cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:23970468 20140515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29602 PDPN is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18291512 20080416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_marker_for DOID:13515 tuberous sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9007104 20161209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:13809 familial combined hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18417194 20170728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:22816026 20130118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_marker_for DOID:10487 Hirschsprung's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10975929 20170424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:11339 pneumocystosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9617869 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10069 RNF6 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30496760 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12826049 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:24225501 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18684966 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9816 RAD50 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14511253 20080909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22319062 20160630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17440926 20080926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7652 NBN is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17337132 20080808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10019 RIPK1 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19778795 20140106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17695443 20080707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:0111144 preterm premature rupture of the membranes ECO:0000270 expression pattern evidence used in manual assertion PMID:19012190 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:18543080 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:0080771 beta-thalassemia major ECO:0000270 expression pattern evidence used in manual assertion PMID:17617032 20161013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8795 PDE9A is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:33787083 20230324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17624586 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21483670 20120928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:4608 common bile duct neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:8143972 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8610136 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:7974333 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12036 TRAF6 is_marker_for DOID:0060036 intrinsic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:27249171 20221108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11865 TM9SF2 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:12730115 20100323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10783 SRSF2 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23071587 20210914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26621837 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12866027 20130227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:22785609 20230530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10961 SLCO1B3 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29577869 20220622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14107 PMEPA1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12907594 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12499913 20100402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6774 SMAD9 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15042598 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11104 SMARCC1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33532313 20210624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:11263 chlamydia ECO:0000270 expression pattern evidence used in manual assertion PMID:30832593 20200807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11007 SLC2A3 is_marker_for DOID:3138 acanthosis nigricans ECO:0000270 expression pattern evidence used in manual assertion PMID:11436180 20071017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11389 STK11 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16785781 20080404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21159571 20211112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18260125 20130208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12645087 20170804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20025970 20170804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_marker_for DOID:5041 esophageal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24527027 20211018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:874 bacterial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:15271694 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22119626 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17664137 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11639 TCF7 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28220803 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8980 PIK3R2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26677064 20180219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:26108065 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22950 PREX2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31711559 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11092 SLPI is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9595 PTGER3 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17407572 20150522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10887 SIX1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17008870 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28631565 20170929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25755481 20160504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32359697 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11344 ST14 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16501837 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30713804 20210915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_marker_for DOID:9408 acute myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:26476955 20180504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:0081267 graft-versus-host disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21211989 20120503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:6364 migraine ECO:0000270 expression pattern evidence used in manual assertion PMID:22165670 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8614 PAWR is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:20067857 20150319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:28843383 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:3314 angiomyolipoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15994429 20080709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18093249 20151130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7474604 20091211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9235 PPARD is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17652168 20100513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23393224 20220909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29484 TET1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23671639 20141006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_marker_for DOID:3905 lung carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11596032 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16859125 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:5520 head and neck squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15878520 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:19895657 20130107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:9780295 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8742 PCP4 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9697113 20150331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9596 PTGER4 is_marker_for DOID:3627 aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:22570740 20120523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31321740 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22363101 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11162 SNRPF is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24080422 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25894568 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9376 PRKAA1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23632475 20210903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10725 SEMA3C is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15077297 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8601 REG3A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10550309 20150304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17899436 20080908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9315 PPP3CB is_marker_for DOID:1312 focal segmental glomerulosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:26436650 20180405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20072849 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11161 SNRPE is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24080422 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:24376652 20160219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7648 NBEA is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28035468 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12221049 20161128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20418386 20120109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:21756887 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11588 TBP is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12531510 20111214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19055478 20100507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19260467 20100507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19639217 20100507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10194154 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17070179 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:26502942 20230718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43686 TPT1-AS1 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27764782 20190121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:8498526 20230901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18711055 20110726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:9111 cutaneous leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:20493664 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9669810 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27661110 20210622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10479 RXRG is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28677753 20180917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17825 PLAAT3 is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11526504 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10810 SGK1 is_marker_for DOID:3114 serous cystadenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11994539 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19492245 20120518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:0060318 acute promyelocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21059853 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:0080159 Cryptococcal meningitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29058791 20210219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_marker_for DOID:4762 vasculogenic impotence ECO:0000270 expression pattern evidence used in manual assertion PMID:14718046 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 is_marker_for DOID:9206 Barrett's esophagus ECO:0000270 expression pattern evidence used in manual assertion PMID:23011828 20130920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:13809 familial combined hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18417194 20170728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10773 SFN is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16271083 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9483 PRSS2 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8621252 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31260499 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26631499 20180131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26749573 20180131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:8691 mycosis fungoides ECO:0000270 expression pattern evidence used in manual assertion PMID:20833513 20140213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:869 cholesteatoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15267172 20140304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14107 PMEPA1 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11568975 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES is_marker_for DOID:2870 endometrial adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11592775 20080903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7669 NCOA2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32489143 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF is_marker_for DOID:10976 membranous glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22328173 20130528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:0050157 cryptogenic organizing pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:21144722 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11007 SLC2A3 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:10086067 20091005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22989431 20130107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10599 SCNN1A is_marker_for DOID:769 neuroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21314941 20111103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11830 TK1 is_marker_for DOID:2893 cervix carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11474248 20100323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27063170 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_marker_for DOID:1074 kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:21034455 20120928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8881 PFN1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16215274 20100513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9858 RAP1GAP is_marker_for DOID:1312 focal segmental glomerulosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24642466 20150318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17499 SERGEF is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33381146 20230123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12693 VIP is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18928861 20120112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:18201705 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8023 NTF3 is_marker_for DOID:10908 hydrocephalus ECO:0000270 expression pattern evidence used in manual assertion PMID:11580868 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19396459 20100514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16764346 20200526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17644806 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 is_marker_for DOID:1679 cystitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17659847 20130920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:18356846 20080729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8527 OXCT1 is_marker_for DOID:2978 carbohydrate metabolic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:8844009 20100629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8863 PFAS is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:6722784 20211118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9113 PML is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25293974 20210203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_marker_for DOID:2913 acute pancreatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26634430 20190702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 is_marker_for DOID:0050700 cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23462508 20210119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15710819 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9858 RAP1GAP is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16424023 20150317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11827 TJP1 is_marker_for DOID:4606 bile duct cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19184677 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8503 OSBP is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21999571 20210129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23304115 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15917 PLCB1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8534418 20181116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:1074 kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:16828495 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:0080379 nephrotic syndrome type 2 ECO:0000270 expression pattern evidence used in manual assertion PMID:20419394 20121119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17937859 20080404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16586073 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8004 NRP1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:34745215 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20223231 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22956424 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12613 USP15 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:31952546 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21982273 20130206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:8914465 20160420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27078847 20211117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11153 SNRPB is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22876301 20160209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7732 NEDD8 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12533840 20150204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16937303 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7838 NKX3-1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28972178 20190514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27514024 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11783019 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21958963 20141202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9858 RAP1GAP is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:16687443 20150318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11366 STAT5A is_marker_for DOID:3457 invasive lobular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15609129 20080404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 is_marker_for DOID:7147 ankylosing spondylitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20952467 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14634 PDAP1 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:27448842 20180723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC is_marker_for DOID:0002116 pterygium ECO:0000270 expression pattern evidence used in manual assertion PMID:22801834 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32504672 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:3490 Noonan syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20686427 20170726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22465620 20120724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12591 UROD is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:2276414 20081009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20465535 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:9743 diabetic neuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17919381 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22499993 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10471 RUNX1 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33408517 20210406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10786 SRSF4 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21082031 20160303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20105309 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_marker_for DOID:3672 rhabdoid cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16528370 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20646456 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8630 PEBP1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18652693 20090120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:4948 gallbladder carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21853342 20220921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8634 PBX3 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32449803 20220902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16638855 20080423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:1074 kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:9650354 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25766258 20180125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:14323 Marfan syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16820601 20190122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10830 SH3GL1 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:23050879 20171218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7672 NCOR1 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10441327 20120228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11939 TNFSF9 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11564827 20100330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:22151390 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29789 MTUS1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19794912 20100310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:8867 molluscum contagiosum ECO:0000270 expression pattern evidence used in manual assertion PMID:24617037 20140506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19386626 20090818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8155 OPRL1 is_marker_for DOID:0060041 autism spectrum disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:30519864 20231010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:32186778 20230921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:11400 pyelonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20178460 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20813038 20101029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19878654 20200608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24247253 20200608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30799 PRRG4 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18647313 20111230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:11132 prostatic hypertrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:15492805 20080708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17107625 20080903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11789718 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9365135 20100407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11866987 20100407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15564794 20080424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11246 SPINT1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14734471 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8728 PCMT1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8736634 20151207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:12449 aplastic anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23336163 20160218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9362 PRG2 is_marker_for DOID:1725 peritoneum cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28439450 20201221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_marker_for DOID:0050811 congenital adrenal hyperplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:31505456 20210401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:1247 blood coagulation disease ECO:0000270 expression pattern evidence used in manual assertion PMID:1420814 20161007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:0111582 hereditary arterial and articular multiple calcification syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22386825 20130107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10658 SDC1 is_marker_for DOID:4195 hyperglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16810465 20071203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11254 SPOP is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31105033 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:21911268 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9692 PTX3 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:26400151 20200818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11274 SPTB is_marker_for DOID:12971 hereditary spherocytosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19538529 20160415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:0060573 von Willebrand's disease 1 ECO:0000270 expression pattern evidence used in manual assertion PMID:15226188 20180124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20855493 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27929120 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9844 RAMP2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21839130 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9065 PLCG1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9703922 20080819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_marker_for DOID:678 progressive supranuclear palsy ECO:0000270 expression pattern evidence used in manual assertion PMID:20512649 20120203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:1495 cystic echinococcosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21923667 20200113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25566 SETD5 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31981592 20230110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15887117 20100601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 is_marker_for DOID:0080365 endometrial hyperplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:9221798 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21176871 20220525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:0112313 brain small vessel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22170884 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14508831 20100518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11680592 20100518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:32213157 20230330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18237383 20080908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18199541 20080908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_marker_for DOID:3840 craniopharyngioma ECO:0000270 expression pattern evidence used in manual assertion PMID:20190664 20160519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9201 POMC is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20651845 20200604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:1555 urticaria ECO:0000270 expression pattern evidence used in manual assertion PMID:12653731 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17032447 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10964 SLC22A18 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32726996 20220105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11128 SNAI1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32682784 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10751 SELENOP is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:32630589 20230922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 is_marker_for DOID:3493 signet ring cell adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18283638 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25520863 20180912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11367 STAT5B is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21826656 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25557791 20220921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22345078 20220921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11823 TIMP4 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:14744773 20080312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 is_marker_for DOID:0050904 salivary gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26498950 20210506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10888 SIX2 is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:33298161 20221101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17507829 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18336589 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18234118 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19825522 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 is_marker_for DOID:8692 myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23228155 20160224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9521170 20080909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32297828 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:9206 Barrett's esophagus ECO:0000270 expression pattern evidence used in manual assertion PMID:12105834 20170801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:9206 Barrett's esophagus ECO:0000270 expression pattern evidence used in manual assertion PMID:23011828 20170801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18556627 20110707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11934 TNFSF4 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28086903 20200807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11367 STAT5B is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25137041 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18275060 20220308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19273754 20130320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11689207 20111013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22403621 20150508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22167593 20150508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17316 TIMM44 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:22003103 20171220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7668 NCOA1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17902051 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7606877 20130621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17599561 20100927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17301 PCSK1N is_marker_for DOID:1307 dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:14746899 20070913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_marker_for DOID:114 heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26597775 20221027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15841414 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:14743629 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15536334 20080424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17097286 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18000229 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:12306 vitiligo ECO:0000270 expression pattern evidence used in manual assertion PMID:22342018 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29605 SH2B3 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31706103 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:39433 PRSS56 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9445 PRL is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20651845 20200604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7865 NODAL is_marker_for DOID:769 neuroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30985990 20220919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22119508 20120531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16 SERPINA3 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16649161 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 is_marker_for DOID:13636 Fanconi anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21542827 20120503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:635 acquired immunodeficiency syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:8548330 20170515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21998667 20120202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17023659 20120202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17664137 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19391 SOCS3 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:15331532 20091015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19391 SOCS3 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16920065 20091015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_marker_for DOID:1070 primary open angle glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20179615 20131106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18991353 20170331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_marker_for DOID:2559 opiate dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:14969742 20231211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:14656922 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30221070 20211018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 is_marker_for DOID:0060318 acute promyelocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24296270 20210112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:7147 ankylosing spondylitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20952467 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:11713 diabetic angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16338763 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11006 SLC2A2 is_marker_for DOID:5577 gastrinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12114701 20100518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11006 SLC2A2 is_marker_for DOID:5577 gastrinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8421107 20100518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11104 SMARCC1 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30144500 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15386419 20210406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9346 PRDM1 is_marker_for DOID:0080797 nasal type extranodal NK/T-cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24438193 20211209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:2129164 20161006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:29951173 20180820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:0070355 overactive bladder syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21826717 20130422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11795 THPO is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20467749 20160503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9206 PON3 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17664137 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11140 SNCB is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10557341 20120313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10543276 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16380766 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11100 SMARCA4 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17075831 20081226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8616 PAX2 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12057921 20100222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9692 PTX3 is_marker_for DOID:0050153 pulmonary aspergilloma ECO:0000270 expression pattern evidence used in manual assertion PMID:29964232 20200819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6773 SMAD7 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25602745 20190513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8590 PAK1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18347024 20080813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:3672 rhabdoid cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20212451 20130204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16998 TMED10 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18652896 20100325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28910954 20191028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB is_marker_for DOID:3594 choriocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8504434 20080415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9298 PPP1R9B is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:15465982 20150416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30396 SELENOS is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:24086512 20141202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10850 SHMT1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17031801 20080912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18391 SCGB3A2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20466451 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19621664 20100317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 is_marker_for DOID:657 adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15100237 20100621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18359089 20120604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:5041 esophageal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27188433 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:1520 colon carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1655258 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:28202489 20180810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8033 NTRK3 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20802235 20211020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8971 PIK3C2A is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:21127054 20130430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20497955 20140217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11161 SNRPE is_marker_for DOID:769 neuroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17075126 20160204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11007 SLC2A3 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19110659 20091002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7467 MTTP is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16697730 20070611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9989 RGN is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28035468 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8023 NTF3 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16315781 20110728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8023 NTF3 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21059230 20110728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:2355 anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18974656 20130305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:1307 dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:16278861 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 is_marker_for DOID:1826 epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:23644113 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7632 NAGLU is_marker_for DOID:12801 mucopolysaccharidosis III ECO:0000270 expression pattern evidence used in manual assertion PMID:4261742 20130221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7850 NME2 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7907945 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8596 PAM is_marker_for DOID:2526 prostate adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11221851 20120530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18556627 20110707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19911196 20091223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:12297 Vogt-Koyanagi-Harada disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21334264 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:23457721 20140107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22001684 20120504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_marker_for DOID:1070 primary open angle glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21552501 20140116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17012137 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12485 UBE2I is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23360823 20181220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17292720 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:9513 plasma cell leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11237381 20160218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:3178 skin papilloma ECO:0000270 expression pattern evidence used in manual assertion PMID:24617037 20140506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8023 NTF3 is_marker_for DOID:1574 alcohol use disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:30277635 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17980128 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:21130083 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7516 MUC5B is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:11802783 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:10140 dry eye syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23538614 20130924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10860 ST6GAL1 is_marker_for DOID:1574 alcohol use disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:17697868 20150514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 is_marker_for DOID:2797 idiopathic interstitial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:15467329 20110801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:6039 uveal melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27486988 20160919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12917229 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19288744 20091223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7673 NCOR2 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14751175 20091210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7850 NME2 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8519661 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18519237 20110128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:2999 granulosa cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:11994539 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7832094 20071205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_marker_for DOID:5593 gastric papillary adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17259107 20210812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8920779 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8616 PAX2 is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:33298161 20221101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12724 VTN is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:7536680 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16850495 20080722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9399 PRKCD is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:10756122 20070928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9462189 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:3049 Churg-Strauss syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22772323 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:2917 cryoglobulinemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19860001 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9206 PON3 is_marker_for DOID:10608 celiac disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17664137 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19825522 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8602 PAPPA is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:12224070 20070912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:12365 malaria ECO:0000270 expression pattern evidence used in manual assertion PMID:27671831 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9491 PRSS8 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11774283 20080421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_marker_for DOID:0112313 brain small vessel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20885295 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11042 SLC6A1 is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:15248296 20071214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:12549 hepatitis A ECO:0000270 expression pattern evidence used in manual assertion PMID:26347518 20201120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11086 SLIT2 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:28973045 20230329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18068619 20111025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:10077454 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12034 TRAF4 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29254206 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9612 PTK2B is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11204274 20080424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:8506 bullous pemphigoid ECO:0000270 expression pattern evidence used in manual assertion PMID:7738351 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:23733199 20130621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14654933 20080407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:22151390 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12754735 20080819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:11758 iron deficiency anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16684543 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16521495 20161012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14946 PPP1R9A is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20089533 20180213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7671 NCOA4 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11561770 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:12306 vitiligo ECO:0000270 expression pattern evidence used in manual assertion PMID:16911396 20140108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11869017 20091211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10498 S100A8 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32663515 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7941 NPPC is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:11775888 20070910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:23432778 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21689089 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9839 RALA is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29113235 20190313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 is_marker_for DOID:0080745 polymyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:32213157 20230330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:853 polymyalgia rheumatica ECO:0000270 expression pattern evidence used in manual assertion PMID:22211720 20120725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:2006 preretinal fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11004090 20090819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:769 neuroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15240516 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8600 PANX2 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23801167 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP is_marker_for DOID:2316 brain ischemia ECO:0000270 expression pattern evidence used in manual assertion PMID:26307429 20230906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29968724 20190917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12693 VIP is_marker_for DOID:7147 ankylosing spondylitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20340024 20120110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11445799 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12797490 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16294022 20080414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_marker_for DOID:8677 perinatal necrotizing enterocolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21399558 20151201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_marker_for DOID:9253 gastrointestinal stromal tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:17007023 20211101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11200 SOX4 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29882245 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:9844059 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9362 PRG2 is_marker_for DOID:12140 Chagas disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29545200 20210106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11391707 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:23379358 20211112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11161 SNRPE is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23915977 20160209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10471 RUNX1 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29747153 20210408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:14018 alcoholic liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18433921 20110411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10998 SLC27A4 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:15168018 20070615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10751 SELENOP is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28842689 20220128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:27411924 20220527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19964 VASH1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24390792 20191107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:4677 keratitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18398706 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30396 SELENOS is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:0060318 acute promyelocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18815192 20160919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:8355419 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11829348 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_marker_for DOID:10754 otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:23543299 20130403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:10540181 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16284605 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11598 TBX20 is_marker_for DOID:6419 tetralogy of Fallot ECO:0000270 expression pattern evidence used in manual assertion PMID:18275040 20230131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17440926 20080926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11935372 20150324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18846962 20101027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17620 NDEL1 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:16510495 20170216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:264 hemangiopericytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26951238 20221110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18145 PHF6 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28675510 20220928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26945 MTFP1 is_marker_for DOID:0060369 Parkinson's disease 6 ECO:0000270 expression pattern evidence used in manual assertion PMID:19492057 20170505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11195 SOX2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21822303 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25566 SETD5 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:35063407 20230110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15068898 20160218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11795 THPO is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9794189 20070427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8569184 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7669 NCOA2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20166126 20120228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11796 THRA is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12082618 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10886088 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18414 UCN2 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16026900 20111012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28578348 20190806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21062445 20101122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:1289674 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:4166 syphilis ECO:0000270 expression pattern evidence used in manual assertion PMID:32117023 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10810 SGK1 is_marker_for DOID:2999 granulosa cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:11994539 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:8866 actinic keratosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9274625 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9075 SERPINF2 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:12595617 20070613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:14592844 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:20861651 20130107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10021 RIPK3 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21425308 20210604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20672 PHF8 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22120715 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_marker_for DOID:8541 Sezary's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16403914 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7605 MYO6 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18543251 20091209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9445 PRL is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:8388614 20071001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11141 SNCG is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16821081 20120312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:17675241 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16806 UBR5 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29441938 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16741576 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11141 SNCG is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18728752 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21255638 20120511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:1768380 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11141 SNCG is_marker_for DOID:768 retinoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18728752 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30743 TSLP is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28471975 20200904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9771 RAB31 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9314 PPP3CA is_marker_for DOID:1312 focal segmental glomerulosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:26436650 20180405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15448007 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:18691743 20120604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12866380 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11141 SNCG is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15221989 20120312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17068 PALLD is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20436683 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:23315497 20140304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:8337 appendicitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19153874 20120604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8102204 20091211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15059706 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:12003641 20100315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9954 REL is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12452071 20080910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:668 RHOB is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12237774 20080730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16733295 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:10078579 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17119348 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:24791872 20160919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:0002116 pterygium ECO:0000270 expression pattern evidence used in manual assertion PMID:15885787 20140404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:25784651 20160906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27241212 20160919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:20669025 20120203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9165 SEPTIN4 is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:12695511 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:1596 depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:19198857 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9113 PML is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11511788 20210203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_marker_for DOID:3307 teratoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10886088 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29522714 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:1588 thrombocytopenia ECO:0000270 expression pattern evidence used in manual assertion PMID:25128199 20160401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:8544 chronic fatigue syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:26615570 20191112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9811 RAD21 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16416296 20211022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9156 PNLIPRP1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11384102 20090126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:9455944 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17009991 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20230924 20200522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10472 RUNX2 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18500170 20210408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21255800 20111012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:26414805 20170809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20692 TPH2 is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:16240163 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:14018 alcoholic liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:27748324 20200522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:15979049 20090707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:0081312 T-cell non-Hodgkin lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20369488 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:0050731 vitamin B12 deficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:22568797 20161013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0050475 Weill-Marchesani syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15223607 20140825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21122381 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7652 NBN is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15337312 20151118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:20038946 20120220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16865223 20080415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26184844 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_marker_for DOID:639 acute disseminated encephalomyelitis ECO:0000270 expression pattern evidence used in manual assertion PMID:31383792 20210614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:10936861 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 is_marker_for DOID:9669 senile cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:21501079 20150609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12585 UQCRC1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11130185 20181226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9221 POU5F1 is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17996359 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 is_marker_for DOID:9498 pulmonary eosinophilia ECO:0000270 expression pattern evidence used in manual assertion PMID:15467329 20110801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30635 SOX30 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26330328 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9956 RELB is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21640702 20140103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32536826 20220527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10660140 20220527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8863 PFAS is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:6722784 20211118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18266831 20100928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16629790 20100928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:8463 corneal ulcer ECO:0000270 expression pattern evidence used in manual assertion PMID:12714388 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:22240747 20130118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:2224 essential thrombocythemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24434346 20160802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_marker_for DOID:11723 Duchenne muscular dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:15616792 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_marker_for DOID:11870 Pick's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18091558 20120206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:13891 bird fancier's lung ECO:0000270 expression pattern evidence used in manual assertion PMID:15881280 20150723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27111394 20210624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16390 NOD1 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20384614 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23197495 20200214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16049 PTGES3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20847343 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_marker_for DOID:3308 embryonal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12754735 20080819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29789 MTUS1 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16270321 20100310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17108213 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:7604873 20130307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16806 UBR5 is_marker_for DOID:2600 laryngeal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32468011 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:1459 hypothyroidism ECO:0000270 expression pattern evidence used in manual assertion PMID:22985614 20160219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9658 PTPN6 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:18543080 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18543080 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16172460 20080407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11795 THPO is_marker_for DOID:2224 essential thrombocythemia ECO:0000270 expression pattern evidence used in manual assertion PMID:9425899 20160610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10597294 20170914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15751 NAPB is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11244216 20151118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:3179 inverted papilloma ECO:0000270 expression pattern evidence used in manual assertion PMID:12541477 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32051824 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20203415 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_marker_for DOID:9220 central sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:16806535 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33042401 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:10754 otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:24690988 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10659 SDC2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:14976204 20090731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:12241 beta thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:26608512 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC is_marker_for DOID:0111535 progressive osseous heteroplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:18422975 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20798476 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19926968 20120601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13447 SLC38A1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26389641 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20939013 20130204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31593110 20200521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15934 NELFCD is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19945309 20150212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16809382 20130925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11078798 20080813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:30407370 20210401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9685 PTPRZ1 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16338072 20220304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27237743 20200605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:28370778 20211101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23243213 20130416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7849 NME1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9036878 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10887 SIX1 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22180226 20161115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22963039 20130603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7849 NME1 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8978595 20110608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11140 SNCB is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:10557341 20120313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6773 SMAD7 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10498890 20190325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26066 TUG1 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22202438 20160428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28533893 20211231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19013462 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30064 PBRM1 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28940253 20210823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11769 TGFB3 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12778073 20170919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10788 SRSF6 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25038828 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:13949 interstitial cystitis ECO:0000270 expression pattern evidence used in manual assertion PMID:23028581 20130422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:15611350 20110225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8590 PAK1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18167251 20080813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9075 SERPINF2 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:1334334 20070613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8602 PAPPA is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12524241 20070912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:0050185 erythema multiforme ECO:0000270 expression pattern evidence used in manual assertion PMID:7738351 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:20473240 20100928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16909 NDC80 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17079454 20200608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_marker_for DOID:936 brain disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21629258 20200902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_marker_for DOID:1826 epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:22160787 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:0060688 arteriovenous malformations of the brain ECO:0000270 expression pattern evidence used in manual assertion PMID:16388189 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:10022440 20170424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11026 SLC3A2 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29179459 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:2355 anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:14613268 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11059 SLC7A11 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24762957 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19492245 20120420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11397 PLK4 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26439168 20200521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:22262697 20230330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20667 TXNRD3 is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17543958 20080423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:24690988 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12435 TXN is_marker_for DOID:820 myocarditis ECO:0000270 expression pattern evidence used in manual assertion PMID:12870673 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7516 MUC5B is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17063754 20110422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7849 NME1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9663430 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22050462 20120601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10950882 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:3594 choriocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8504434 20080415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7669 NCOA2 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19198856 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11847 TLR1 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16493059 20101203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19178538 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP is_marker_for DOID:9975 cocaine dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:21806491 20230901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11723 TMBIM6 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15337562 20080407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16909 NDC80 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19878654 20200608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10498 S100A8 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20566746 20130607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:18484695 20120106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:9743 diabetic neuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19414982 20090902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16393287 20191211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:16952198 20170814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:11738074 20090818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:23460043 20130404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22266663 20130607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11141 SNCG is_marker_for DOID:8725 vascular dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:18577885 20120312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_marker_for DOID:11713 diabetic angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:33294897 20230614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10788 SRSF6 is_marker_for DOID:4159 skin cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24440982 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23071587 20210914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14499677 20080903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18449376 20080905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:22773904 20160108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:11100001 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:19493956 20140116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 is_marker_for DOID:0080207 CAKUT2 ECO:0000270 expression pattern evidence used in manual assertion PMID:27448803 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24762957 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_marker_for DOID:8869 neuromyelitis optica ECO:0000270 expression pattern evidence used in manual assertion PMID:21371524 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9065 PLCG1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8534418 20181116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9395 PRKCB is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8534418 20181116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19010563 20090828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:1708827 20120425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:18574676 20130305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7871 NONO is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:32410217 20230213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 is_marker_for DOID:2156 ovarian germ cell cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19295406 20161031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15929959 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9122 PMS2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17394628 20091214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8978 PIK3CG is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20876794 20190220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10739162 20170809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11506 SYP is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20847448 20180205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:13001 carotid stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22075154 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_marker_for DOID:1555 urticaria ECO:0000270 expression pattern evidence used in manual assertion PMID:12780723 20140213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16049 PTGES3 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14736553 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11999 TP53BP1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:24270264 20141006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26615570 20191112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11397 PLK4 is_marker_for DOID:3007 breast ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26439168 20200521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 is_marker_for DOID:11723 Duchenne muscular dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:22934738 20170621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:10652191 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3145 TRPV5 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22072713 20140520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 is_marker_for DOID:3073 brain glioblastoma multiforme ECO:0000270 expression pattern evidence used in manual assertion PMID:20219118 20210119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10067 RNF4 is_marker_for DOID:1932 Angelman syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15014980 20150309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21686 RNASET2 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32528897 20220720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:27184185 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10787 SRSF5 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9865741 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7464 MTNR1B is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19060908 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7698 NDUFB3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28474567 20181106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17094484 20091223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10446 RRAD is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:18056528 20090730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27035326 20220615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18122 SOX17 is_marker_for DOID:14557 primary pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:36919784 20230615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10061 RNF2 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19585519 20140916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10962 SLCO2B1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21625523 20220621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_marker_for DOID:8692 myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21264917 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8863 PFAS is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:6722784 20211118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18254476 20110120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19382 SOCS2 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12888825 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16213898 20161209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:27328755 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11069 SLC8A2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21382638 20180613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:635 acquired immunodeficiency syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:8548330 20170515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_marker_for DOID:12918 thromboangiitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:12086338 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:2513 basal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10504535 20170331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21376022 20120201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9075 SERPINF2 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:9361364 20070613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:19408175 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19331145 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:20012460 20140217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12946796 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9845 RAMP3 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21839130 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_marker_for DOID:0080016 spina bifida ECO:0000270 expression pattern evidence used in manual assertion PMID:26446020 20170330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15971 TSG101 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17369844 20080401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:0080202 adenoid cystic carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16249115 20140225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9316 PPP3CC is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:15820226 20180409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11244 SPINK1 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8988701 20080916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19367700 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:21223646 20120103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12338 TRPC6 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15358862 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_marker_for DOID:1520 colon carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23467704 20200217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:24763007 20160919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7965392 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11244 SPINK1 is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15269150 20080916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:19155603 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:3007 breast ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17011986 20080320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:14743629 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8574 PAFAH1B1 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:16510495 20170216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20006396 20200113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11020342 20110531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15951164 20161213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15528463 20231004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17706748 20130305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14362 MUC19 is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18184611 20130925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_marker_for DOID:0060651 MYH-9 related disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16806139 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18338983 20090506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7941 NPPC is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:8117275 20070910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A is_marker_for DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23178689 20180510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17303077 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:9651 systolic heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:23725445 20130621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:83 cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:19439227 20140217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23569025 20200522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15971 TSG101 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17606716 20080708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7513 MUC3A is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11680592 20100526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16638 SRRM1 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:24308201 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9082 PLOD2 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29072684 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7732 NEDD8 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12533840 20150204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_marker_for DOID:678 progressive supranuclear palsy ECO:0000270 expression pattern evidence used in manual assertion PMID:15841414 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21239758 20110801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9346 PRDM1 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28378641 20211209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 is_marker_for DOID:4074 pancreatic adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27919956 20190205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6731 NCR1 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:17553896 20201109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12055674 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16007 TRIM63 is_marker_for DOID:14557 primary pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:23972212 20230519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:2323846 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7668 NCOA1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14871982 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29804846 20220308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:1727 retinal vein occlusion ECO:0000270 expression pattern evidence used in manual assertion PMID:18084236 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10788 SRSF6 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23132731 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:12935365 20070503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH is_marker_for DOID:0040089 autoimmune optic neuritis ECO:0000270 expression pattern evidence used in manual assertion PMID:23316360 20200526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:12654066 20130814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10901 SKP2 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:19094580 20091215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_marker_for DOID:2237 hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19739236 20201123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:8393677 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:9310019 20101206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10901 SKP2 is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12107105 20181120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16341938 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11369057 20091211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10498 S100A8 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17970044 20100302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11679940 20080829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC is_marker_for DOID:4074 pancreatic adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22082308 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:21372607 20120608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19716418 20151124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:20228226 20161007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20033348 20140924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22902550 20140924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12458889 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16059 PAK4 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25744653 20180125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9948 RECQL is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18422747 20100331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21129050 20110329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 is_marker_for DOID:9146 visceral leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:23729024 20210309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11051224 20080407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:20861467 20150505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12485 UBE2I is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15735760 20081007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:8536 herpes zoster ECO:0000270 expression pattern evidence used in manual assertion PMID:21954956 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31783691 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15582 MUC16 is_marker_for DOID:9368 keratoconjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18782111 20130925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_marker_for DOID:0050830 peripheral artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21468772 20151204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9253 PPIA is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31063269 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:874 bacterial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:10650487 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12615701 20080908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18308829 20121218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:18559366 20110707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29218250 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16863836 20090807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:19723043 20091222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:11612 polycystic ovary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19375763 20170809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:2870 endometrial adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1540970 20080318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20667 TXNRD3 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:19718710 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21501294 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30233216 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21806946 20170411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14107 PMEPA1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11568975 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8504 OSBP2 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21763455 20210129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_marker_for DOID:0060041 autism spectrum disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:30519864 20231010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17985 ROBO4 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:22262697 20230330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_marker_for DOID:1073 renal hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:12697975 20130814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19885590 20091223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18468781 20080905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16928692 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26980022 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19845893 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 is_marker_for DOID:11204 allergic conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17177679 20130920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:2048 autoimmune hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26615570 20191112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:19721293 20101206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:1996 rectum adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21036745 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11912 TNFRSF14 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11742877 20100325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7849 NME1 is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8618340 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11026 SLC3A2 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24762957 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21334264 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14600787 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10787 SRSF5 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21082031 20160303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12031086 20100621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19703828 20101018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15257411 20140516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_marker_for DOID:9368 keratoconjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18782111 20130925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11285 SRD5A2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12949937 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17283255 20070912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20551689 20120203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25475870 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8602 PAPPA is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17728480 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20435656 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28707 PAGR1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33833989 20220826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_marker_for DOID:0081267 graft-versus-host disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25759146 20160512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:32595526 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11445799 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9276029 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12372 TSHB is_marker_for DOID:4195 hyperglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:7956715 20070502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11086 SLIT2 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:33236535 20230327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10499 S100A9 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17970044 20100302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10471 RUNX1 is_marker_for DOID:3033 colon signet ring adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29747153 20210408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7941 NPPC is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8989116 20070910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17189982 20091221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:1073 renal hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:12697975 20130814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7775 NFATC1 is_marker_for DOID:1712 aortic valve stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23578508 20230418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 is_marker_for DOID:5052 melioidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17676990 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12384247 20181109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11648 TCL1A is_marker_for DOID:5603 T-cell acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:10077617 20150728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_marker_for DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ECO:0000270 expression pattern evidence used in manual assertion PMID:27558075 20170908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12435 TXN is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15749180 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9675 PTPRM is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32663515 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7912320 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_marker_for DOID:13922 eosinophilic esophagitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22331014 20120725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:16414453 20150506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:21852020 20140610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21979415 20111012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:24690988 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28677753 20180917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15668790 20151130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15632 TLR8 is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19386802 20110330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29602 PDPN is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16736189 20080416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15980 RERG is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11533059 20150219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:11870517 20080320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11789718 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21881486 20130201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15271694 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19391 SOCS3 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16878360 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23632475 20210903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:16952920 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12261 TRDN is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17400717 20130917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_marker_for DOID:10140 dry eye syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22089171 20130923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11830 TK1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10883887 20100323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_marker_for DOID:12849 autistic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:15820235 20100510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17961306 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17985 ROBO4 is_marker_for DOID:3963 thyroid gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32626543 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12335 TRPC3 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15358862 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16893710 20070907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16311343 20231004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16387 OSBPL7 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21763455 20210129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 is_marker_for DOID:686 liver carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32186778 20230921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:10754 otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:24690988 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_marker_for DOID:10754 otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:23380629 20140502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:33691361 20211105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:23406590 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22296682 20130226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:34111459 20220826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8763 PDCD4 is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26150475 20220629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25026830 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8590 PAK1 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17533742 20080813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:869 cholesteatoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22883581 20140115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16696344 20220602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23071587 20210914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9077 PLK1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16837776 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30341011 20201001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:5614 eye disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12186498 20131028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9221 POU5F1 is_marker_for DOID:3308 embryonal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18045648 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10961 SLCO1B3 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25625007 20220621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30815 NEAT1 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22202438 20160428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11374 STC2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_marker_for DOID:0080158 herpes simplex virus keratitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17667620 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44311 NORAD is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31059060 20220831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9709 PVT1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30205391 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL is_marker_for DOID:0081267 graft-versus-host disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21635226 20120117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8044 NUCB2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22108805 20150227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8799 PDGFA is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16294022 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15857400 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21881486 20130611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_marker_for DOID:9446 cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28146070 20190521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:19169931 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21938407 20120328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11366 STAT5A is_marker_for DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27018255 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8347330 20151130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21709632 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11344 ST14 is_marker_for DOID:2999 granulosa cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:16439987 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17073871 20140529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_marker_for DOID:5773 oral submucous fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10680515 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10776 SFRP1 is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15123780 20081029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24573 NEIL3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11007 SLC2A3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8179300 20091005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_marker_for DOID:11132 prostatic hypertrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:25546515 20161130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10783 SRSF2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23071587 20210914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_marker_for DOID:3963 thyroid gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32626543 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_marker_for DOID:0080652 calcium oxalate nephrolithiasis ECO:0000270 expression pattern evidence used in manual assertion PMID:23470222 20130404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26485275 20220128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:25520116 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:19343356 20090928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:17990298 20090928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20332475 20100611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18706098 20100611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4554 GPX2 is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18552985 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17320450 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14575 MEG3 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22202438 20160428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4270 GIP is_marker_for DOID:11465 autonomic nervous system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18376350 20090824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32878625 20220527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:22840297 20230126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:21388517 20230126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:25017274 20230126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:28700503 20230126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:27746364 20230126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31580 MIR200C is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25205654 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:3519044 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14715109 20140516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12184408 20140516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:4079 heart valve disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24093773 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14063 HDAC4 is_marker_for DOID:1875 impotence ECO:0000270 expression pattern evidence used in manual assertion PMID:24636283 20141119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17158635 20200818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:7949186 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:633 myositis ECO:0000270 expression pattern evidence used in manual assertion PMID:8952317 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4270 GIP is_marker_for DOID:4195 hyperglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19174495 20090824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19265174 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27570561 20231002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25333265 20231002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6886 MAPK9 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11208906 20151120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6493 LAMC2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26180921 20181003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6493 LAMC2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10964684 20181003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:3904 bronchus carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8030748 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25391771 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28211229 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28646120 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24595450 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25820676 20230209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6348 KLF4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22677193 20190522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6371 KLKB1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:12716755 20130912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:3827 congenital diaphragmatic hernia ECO:0000270 expression pattern evidence used in manual assertion PMID:27592368 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:28355202 20200424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:27817193 20200424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:4226 endometrial stromal sarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17367465 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20816188 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:8686976 20100916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:8810593 20100916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29250766 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30008945 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31103022 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29940770 20191014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11981765 20191014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12736721 20191014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30720132 20191014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:1132599 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19463895 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_marker_for DOID:4079 heart valve disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16631011 20170320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31541 MIR154 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25846246 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6563 LGALS3 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16549783 20141230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19361849 20110405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21439806 20110405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_marker_for DOID:8725 vascular dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:25261450 20180927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31530 MIR143 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:29728596 20230131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22262980 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19949414 20210412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:0080746 Sweet syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21658319 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31599 MIR22 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21295623 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4317 GLI1 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18991353 20170331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29871592 20191213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28051796 20191213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18479783 20150623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22476197 20150623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31537 MIR150 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21501493 20180822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:32860786 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22199269 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18251742 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20966734 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12404291 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19175895 20090609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4620 GSN is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:21481565 20230427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32073 MIR488 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32271408 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20110906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:646 viral encephalitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17529876 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31761 MIR148B is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29587866 20221220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33134 MIR671 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30664171 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21890451 20220708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21658006 20220708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31599 MIR22 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27811373 20190822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31599 MIR22 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21750200 20190822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31599 MIR22 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23766411 20190822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31516 MIR132 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25553963 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30304975 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17235586 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30610790 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6059 IDO1 is_marker_for DOID:635 acquired immunodeficiency syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:32369456 20201027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21417552 20151102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6293 KCNN4 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:23261940 20230822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:6463365 20130823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20181004 20130823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17394628 20080602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16996262 20080602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:9206 Barrett's esophagus ECO:0000270 expression pattern evidence used in manual assertion PMID:22147251 20120523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20145178 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16783774 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32211850 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31541 MIR154 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25386559 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18541 KMT2E is_marker_for DOID:0060318 acute promyelocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24796963 20141030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:10754 otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:18266836 20140129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:12714661 20150623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:24106111 20150623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:24894397 20151016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5144 HPCA is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19686238 20150210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31866771 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25728840 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3821 FOXO3 is_marker_for DOID:2870 endometrial adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26045339 20171026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_marker_for DOID:0060060 non-Hodgkin lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29940770 20191010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4880 HEY1 is_marker_for DOID:5241 hemangioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27388534 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:5041 esophageal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26603620 20220715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3819 FOXO1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28972178 20190514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:1495 cystic echinococcosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25726962 20190712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19352211 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20622030 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11751871 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:10608 celiac disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26440733 20190923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17709267 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:14675666 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4605 GRP is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:1396815 20230801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4605 GRP is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:30145817 20230801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:4989 pancreatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20100461 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:1067 open-angle glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23788371 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31604 MIR224 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23913306 20200110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31604 MIR224 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27462777 20200110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31604 MIR224 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23922662 20200110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31604 MIR224 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22459148 20200110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31604 MIR224 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24923856 20200110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11460888 20061027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3609 FCER1A is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21388666 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3609 FCER1A is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20937062 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20815 KDM3A is_marker_for DOID:3369 Ewing sarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24362521 20141120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4449 GPC1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23301222 20201023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22540111 20130826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:23319831 20130605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27904131 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19598010 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32083 MIR432 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33675609 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32083 MIR432 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30086881 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32083 MIR432 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25797263 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27906445 20221019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28745794 20221019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21062445 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29537891 20210722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24046070 20210722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_marker_for DOID:4471 chromophobe renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15649945 20211231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17570514 20160120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12145700 20160120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3684 FGF6 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:2289066 20080925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:8952317 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4171 GATA2 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:30659233 20231019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6005 IL21 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24611989 20210622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16887362 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_marker_for DOID:4074 pancreatic adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27919956 20190117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16410746 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:9761317 20170913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26957558 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26419959 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27876571 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29928882 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22638884 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19921579 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6839 MAP2 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:20092829 20120514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16260350 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12379753 20080218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:9548303 20111114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:1387 hypolipoproteinemia ECO:0000270 expression pattern evidence used in manual assertion PMID:17322100 20070813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:9111 cutaneous leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:29205403 20200806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25965836 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18988929 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17725274 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:7686390 20160803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9350587 20140312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17071 KDM4C is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20127736 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8226987 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29368621 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4510 KISS1R is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17914099 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11163834 20081014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10022420 20081014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28650518 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17158635 20200818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28086903 20200807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26658322 20220406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26909612 20220406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24241 LETMD1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19208263 20091208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16428475 20140523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:9146 visceral leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:17357060 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:9146 visceral leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:26297290 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 is_marker_for DOID:4325 Ebola hemorrhagic fever ECO:0000270 expression pattern evidence used in manual assertion PMID:20957152 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6664 LOX is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21282564 20211108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_marker_for DOID:6726 fibrillary astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19179066 20180720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12378509 20080404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6051 IMPA2 is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:11673796 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:23953887 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20720502 20111017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6365 KLK4 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17545602 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17071 KDM4C is_marker_for DOID:0050902 medulloblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19270706 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5246 HSPB1 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21417552 20151102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19118063 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20876809 20170522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31495 MIR106B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28958640 20191213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31495 MIR106B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31406464 20191213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31495 MIR106B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28611524 20191213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31495 MIR106B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25894380 20191213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19513509 20210928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB is_marker_for DOID:8567 Hodgkin's lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12145210 20150112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4852 HDAC1 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19424621 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17786346 20110408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29136 KDM4B is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22120715 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:15955140 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16019138 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5993 IL1R1 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32416070 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5993 IL1R1 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32360286 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5993 IL1R1 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5993 IL1R1 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30610790 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3804 FOXD3 is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28990066 20221025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21263407 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29899555 20220216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:21848584 20121204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:824 periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21796505 20191011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:824 periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22795294 20191011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32787735 20211231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15194590 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32088 MIR497 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31115562 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25765717 20220706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19424634 20120305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21137014 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4605 GRP is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30146822 20230801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_marker_for DOID:6039 uveal melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9286277 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8518410 20080313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17221153 20080313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16432074 20061115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:4250 conjunctivochalasis ECO:0000270 expression pattern evidence used in manual assertion PMID:20019361 20140709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18129 GHRL is_marker_for DOID:11983 Prader-Willi syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15057669 20170602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12487935 20080707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:10952 nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22752353 20120829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19177438 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25333267 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23660204 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26150475 20220629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:27696070 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:12843191 20090610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16721362 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10865312 20190923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29534057 20190923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32125452 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32164089 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32181911 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32297828 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32227274 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32434211 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32365221 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32456948 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32407836 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32427582 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32345579 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32416070 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15860861 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21653647 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31880 MIR423 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:31422516 20230320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15502806 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:2938 Epstein-Barr virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31322518 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28979 GSE1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29367342 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:1227 neutropenia ECO:0000270 expression pattern evidence used in manual assertion PMID:22092365 20120523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:8536 herpes zoster ECO:0000270 expression pattern evidence used in manual assertion PMID:21954956 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:1586 rheumatic fever ECO:0000270 expression pattern evidence used in manual assertion PMID:14567831 20180724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:11157561 20140227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:0070227 intrahepatic cholestasis of pregnancy ECO:0000270 expression pattern evidence used in manual assertion PMID:28697498 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:9669 senile cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:12518238 20151007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5475 IGFBP6 is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15123780 20081029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26657862 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27215092 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29367106 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23946296 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:8553 pyoderma gangrenosum ECO:0000270 expression pattern evidence used in manual assertion PMID:21658319 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:28368861 20190711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:10893635 20081003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6181 ITPR2 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3663 FGD1 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19141649 20161019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28586045 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:9893928 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:8908280 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:14653048 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:29940770 20191010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6383 KNG1 is_marker_for DOID:11123 Henoch-Schoenlein purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:26098644 20160418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_marker_for DOID:13515 tuberous sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25277454 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27433921 20211231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_marker_for DOID:11206 opioid abuse ECO:0000270 expression pattern evidence used in manual assertion PMID:29766293 20231219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6493 LAMC2 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23124251 20181003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31575 MIR19B1 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22003392 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5246 HSPB1 is_marker_for DOID:1312 focal segmental glomerulosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21931298 20151028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:399 tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25755791 20201102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31577 MIR20A is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26560875 20200507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_marker_for DOID:1240 leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23977280 20160810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19303097 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16426918 20080602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4030 FXYD6 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19760337 20181102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 is_marker_for DOID:14323 Marfan syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16820601 20061106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25797269 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28623129 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16121636 20160128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26744471 20200428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29552117 20200428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19680 GPBAR1 is_marker_for DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28543567 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5033 HNRNPA2B1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22628224 20150410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_marker_for DOID:1520 colon carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29940770 20191010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:8094011 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:2015706 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:8566 herpes simplex ECO:0000270 expression pattern evidence used in manual assertion PMID:15498041 20140721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7963654 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23177 KEAP1 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18957896 20120827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:9563 bronchiectasis ECO:0000270 expression pattern evidence used in manual assertion PMID:20568383 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31624 MIR30A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32116236 20200710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_marker_for DOID:2870 endometrial adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14760076 20180806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10631206 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10543265 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5975 IL13RA2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19065664 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_marker_for DOID:0050784 primary progressive multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21613335 20111031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3665 FGF1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20079650 20111109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3685 FGF7 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11000522 20080118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23180362 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31866771 20200221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF is_marker_for DOID:12689 acoustic neuroma ECO:0000270 expression pattern evidence used in manual assertion PMID:19937367 20140515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4567 GRB7 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9125150 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6206 JUND is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26581505 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10666520 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8164212 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:19723343 20110711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:1591 renovascular hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:22923545 20130606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5253 HSP90AA1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23948885 20151125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4271 GIPR is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19386626 20090824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4056 G6PC1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:10866049 20100119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:11506 suppurative otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:19640314 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4317 GLI1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22901214 20211101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29023872 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5036 HNRNPD is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20102719 20150512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5031 HNRNPA1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20716340 20150410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12544349 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18366705 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21835023 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:22766719 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:19081304 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:26925776 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:14256 adult-onset Still's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24387171 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:0060108 brain glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:25059666 20220629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_marker_for DOID:0080546 non-alcoholic fatty liver ECO:0000270 expression pattern evidence used in manual assertion PMID:33081272 20231110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:2508 Takayasu's arteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:23100088 20140709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:17553896 20201109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_marker_for DOID:12177 common variable immunodeficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:17900300 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:9972954 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23024164 20121018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:11174201 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8342915 20100917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20404807 20100917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_marker_for DOID:0014667 disease of metabolism ECO:0000270 expression pattern evidence used in manual assertion PMID:22151886 20210818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29713162 20200120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25817558 20200120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28096271 20200120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:8472 localized scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:7916356 20140211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:20471070 20110829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:8869 neuromyelitis optica ECO:0000270 expression pattern evidence used in manual assertion PMID:23180362 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:10754 otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:23404508 20131001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6341 KISS1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:16952198 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:25076856 20210419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31616 MIR29A is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:34887365 20230328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27927859 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26010154 20210127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:16209246 20121102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6860 MAP3K8 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23982215 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14613644 20080304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30660174 20190617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6596 LIF is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29899555 20220217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:26502942 20230718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20651845 20200604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5987 IL18BP is_marker_for DOID:14018 alcoholic liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15566508 20190710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10917466 20110419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15625284 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28871 IER2 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22120713 20220815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32841 MIR585 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21795477 20220627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16971 FRS2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25900027 20160714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31567 MIR196A1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25374225 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11478488 20100422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11562741 20100422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9293890 20100422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4739 H2AX is_marker_for DOID:9655 oral mucosa leukoplakia ECO:0000270 expression pattern evidence used in manual assertion PMID:29928356 20210818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22004841 20120523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:28705740 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:18852388 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:20303587 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:2799 bronchiolitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:20417130 20110412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8952317 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6724 LUM is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17671699 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:19953283 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6866 MAP4K4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29138007 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6866 MAP4K4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27882171 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6866 MAP4K4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25602366 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19740312 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12462332 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0080207 CAKUT2 ECO:0000270 expression pattern evidence used in manual assertion PMID:27448803 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15888207 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15271897 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15657466 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15472864 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15865221 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:13025 retinopathy of prematurity ECO:0000270 expression pattern evidence used in manual assertion PMID:23202391 20170208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16080911 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:22262697 20230330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19242066 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29552756 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:0002116 pterygium ECO:0000270 expression pattern evidence used in manual assertion PMID:15885787 20140404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:0002116 pterygium ECO:0000270 expression pattern evidence used in manual assertion PMID:23376569 20140404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:24325877 20230828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21719422 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31205511 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32276600 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4238 GFI1B is_marker_for DOID:8761 acute megakaryocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:17156408 20160309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5041 HNRNPH1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23633480 20150803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24200674 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20699612 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29895215 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31562 MIR192 is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:26125439 20220830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31562 MIR192 is_marker_for DOID:13768 opisthorchiasis ECO:0000270 expression pattern evidence used in manual assertion PMID:26456596 20210203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31548 MIR18A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30519035 20191205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31548 MIR18A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24975878 20191205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31548 MIR18A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29455432 20191205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31548 MIR18A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30191950 20191205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31548 MIR18A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19027010 20191205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26820128 20200207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20422307 20200207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26958084 20200207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:23517877 20150904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:17495954 20150904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18573568 20200408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29940770 20191010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:2999 granulosa cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:18028988 20081125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20121766 20100830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32456948 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32365221 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19373518 20090928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6002 IL20 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18639518 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:0050904 salivary gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26498950 20210506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16284605 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18978347 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14067 HDAC7 is_marker_for DOID:986 alopecia areata ECO:0000270 expression pattern evidence used in manual assertion PMID:21936853 20141112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_marker_for DOID:1826 epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:18596546 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10661494 20151116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 is_marker_for DOID:0060643 primary sclerosing cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26195313 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19506087 20130118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31552 MIR181C is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:24789793 20191217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL is_marker_for DOID:409 liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31335486 20230824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL is_marker_for DOID:409 liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23362937 20230824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20921623 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22258321 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:10459 common cold ECO:0000270 expression pattern evidence used in manual assertion PMID:10358201 20100916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16480593 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:12186498 20140408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31790 MIR196B is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28211508 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10865312 20180201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:12823854 20150903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:23411880 20140404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17599042 20211026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29351209 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31804468 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:10322 berylliosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19453654 20101101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23357299 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32048621 20210720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5994 IL1R2 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:1591 renovascular hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:22923545 20130606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_marker_for DOID:299 adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1988177 20131209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6857 MAP3K5 is_marker_for DOID:8677 perinatal necrotizing enterocolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20716917 20151118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16358839 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_marker_for DOID:1107 esophageal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22935172 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_marker_for DOID:12689 acoustic neuroma ECO:0000270 expression pattern evidence used in manual assertion PMID:15354013 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31567 MIR196A1 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28211508 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:9065 leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:2145107 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A is_marker_for DOID:7596 asbestos-related lung carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21231887 20170320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17784951 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:28705740 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:20303587 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:18852388 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7406 MT2A is_marker_for DOID:2468 psychotic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:18992145 20120604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:2913 acute pancreatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29937734 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:2913 acute pancreatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:30497068 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31606 MIR23B is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:12051401 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31501 MIR122 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19584283 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31501 MIR122 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25422324 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31501 MIR122 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27528885 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11329138 20080215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9294834 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:21430024 20151015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:22885997 20160120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20926789 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:22459050 20140225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14063 HDAC4 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23824486 20141201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5118 HOXB7 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26076456 20151019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:12894903 20111110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:1440702 20111110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21109552 20101129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19342416 20101129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11527941 20140408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:3319 lymphangioleiomyomatosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18760908 20110405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31635 MIR34A is_marker_for DOID:11294 arteriovenous malformation ECO:0000270 expression pattern evidence used in manual assertion PMID:23051042 20221013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:5686464 20160726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31497 MIR10A is_marker_for DOID:11294 arteriovenous malformation ECO:0000270 expression pattern evidence used in manual assertion PMID:23051042 20221013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20848408 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_marker_for DOID:2355 anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19096080 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:0080522 thyroid gland anaplastic carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20956945 20210204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11485899 20070813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:17505145 20140516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31589 MIR212 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25965836 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5253 HSP90AA1 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24796583 20220519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:2297 leptospirosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19330263 20120928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4552 GPT is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22922605 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4552 GPT is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24768200 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5238 HSPA5 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:21112319 20120117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:19276553 20150622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18363 IFNL1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:22135341 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18363 IFNL1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:25784275 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21471098 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21169467 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4881 HEY2 is_marker_for DOID:799 varicose veins ECO:0000270 expression pattern evidence used in manual assertion PMID:26808710 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11585740 20080609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:12241 beta thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:9666877 20170209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:8649 tongue cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30617160 20200221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP is_marker_for DOID:12241 beta thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23905873 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_marker_for DOID:0080334 aortic valve disease 2 ECO:0000270 expression pattern evidence used in manual assertion PMID:24560417 20170306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31632 MIR320A is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:32178730 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:11678 onchocerciasis ECO:0000270 expression pattern evidence used in manual assertion PMID:22805723 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_marker_for DOID:820 myocarditis ECO:0000270 expression pattern evidence used in manual assertion PMID:12619876 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7132 KMT2A is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24200674 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23948281 20141202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:8566 herpes simplex ECO:0000270 expression pattern evidence used in manual assertion PMID:28007920 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:10003 sensorineural hearing loss ECO:0000270 expression pattern evidence used in manual assertion PMID:19684145 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4556 GPX4 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:20303587 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4556 GPX4 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:18852388 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18234118 20140107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6006 IL21R is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19075398 20120817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:0002116 pterygium ECO:0000270 expression pattern evidence used in manual assertion PMID:20198298 20140508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12887511 20120305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31530 MIR143 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32104069 20220722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19333204 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18995215 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19585618 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21993925 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:24630506 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:19267279 20090626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18541 KMT2E is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23754336 20141030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:28843383 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11148 FSCN1 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12109856 20100423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_marker_for DOID:9409 diabetes insipidus ECO:0000270 expression pattern evidence used in manual assertion PMID:6777392 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:11457749 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 is_marker_for DOID:986 alopecia areata ECO:0000270 expression pattern evidence used in manual assertion PMID:21936853 20141112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28990066 20221025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31526 MIR139 is_marker_for DOID:3073 brain glioblastoma multiforme ECO:0000270 expression pattern evidence used in manual assertion PMID:26449464 20190109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19324981 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18807170 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31501 MIR122 is_marker_for DOID:14018 alcoholic liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28987423 20190514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6563 LGALS3 is_marker_for DOID:1712 aortic valve stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15520318 20141229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15781004 20151015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:23054011 20130225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19152246 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4554 GPX2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18479189 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_marker_for DOID:0050745 diffuse large B-cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15701085 20160819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30572504 20191204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:224 transient cerebral ischemia ECO:0000270 expression pattern evidence used in manual assertion PMID:30098076 20230928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5273 HSPG2 is_marker_for DOID:4195 hyperglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15056491 20070507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4847 HCRT is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:15970339 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4847 HCRT is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16135994 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:12306 vitiligo ECO:0000270 expression pattern evidence used in manual assertion PMID:23680073 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4964 HLA-G is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10706505 20110801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_marker_for DOID:11612 polycystic ovary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:33230470 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17016 KAT7 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21040551 20141126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_marker_for DOID:3965 Merkel cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28359267 20200811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:9743 diabetic neuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11311965 20100106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:30659233 20231019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6838 MAP1LC3A is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22895779 20161111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30710754 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27035278 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28074870 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29528577 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31866771 20200221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:28197626 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12051401 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:27411924 20220527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:13025 retinopathy of prematurity ECO:0000270 expression pattern evidence used in manual assertion PMID:20085549 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9816310 20170329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31880 MIR423 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:30587375 20230320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16731 FBXO32 is_marker_for DOID:14557 primary pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:23972212 20230519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23398167 20151006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:11713 diabetic angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18496641 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31515 MIR130B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25387077 20190617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1337 KDM3B is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18975135 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31522 MIR136 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28849100 20220902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15840 KMT2B is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24491801 20141030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32083 MIR432 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28760781 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 is_marker_for DOID:9955 hypoplastic left heart syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18344372 20161110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6361 KLK13 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12970725 20091201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6325 KIF5C is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20396563 20170412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_marker_for DOID:13001 carotid stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15748240 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4552 GPT is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:30665287 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:20705635 20110304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32850377 20210927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30648791 20230519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32817424 20230519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6365 KLK4 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19190825 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6365 KLK4 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18687310 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25995247 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:11027520 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:10843772 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4212 GDA is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8076377 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13590 FBXO11 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31829474 20220502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13590 FBXO11 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29278851 20220502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29882 ISCU is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23449350 20220930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4208 GCSH is_marker_for DOID:9252 amino acid metabolic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:7070876 20170517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:33783502 20221011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4847 HCRT is_marker_for DOID:11983 Prader-Willi syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15613151 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15753986 20080313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15209464 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10420202 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4545 GRK6 is_marker_for DOID:2559 opiate dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:14969742 20231211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31500 MIR1-2 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21295623 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17020 IRAK3 is_marker_for DOID:5052 melioidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19114913 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:2674184 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24789592 20220525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7175 MMP8 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15194590 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:12365 malaria ECO:0000270 expression pattern evidence used in manual assertion PMID:19338000 20200807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:12365 malaria ECO:0000270 expression pattern evidence used in manual assertion PMID:16169501 20200807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15865221 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:4959 epidermolysis bullosa dystrophica ECO:0000270 expression pattern evidence used in manual assertion PMID:15140235 20170209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26858085 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24625449 20141107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:11263 chlamydia ECO:0000270 expression pattern evidence used in manual assertion PMID:30832593 20200807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25995247 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31587040 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:0060688 arteriovenous malformations of the brain ECO:0000270 expression pattern evidence used in manual assertion PMID:11220380 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3796 FOS is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15514944 20080612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:18618071 20101230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_marker_for DOID:4971 myelofibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21487043 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:28125526 20200330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19949019 20101105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15563 IL37 is_marker_for DOID:12662 paracoccidioidomycosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28992214 20201014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20176803 20101123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6293 KCNN4 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:26502942 20230830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6293 KCNN4 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:24524604 20230830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:12351 alcoholic hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15566508 20190710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:3454 brain infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:18692933 20090928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28814673 20210712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24124720 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20103675 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_marker_for DOID:1725 peritoneum cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32724431 20210308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19179066 20180720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5360 ID1 is_marker_for DOID:14557 primary pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20522807 20150130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6367 KLK6 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18992199 20091201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12689659 20140521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32104069 20220722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27798874 20220722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_marker_for DOID:13641 exfoliation syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18055805 20140114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:27793641 20190911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25254524 20190911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15997630 20190911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4313 GLDC is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26722042 20170517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33662 MIR665 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30237408 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5468 IGFALS is_marker_for DOID:8689 anorexia nervosa ECO:0000270 expression pattern evidence used in manual assertion PMID:11248743 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6005 IL21 is_marker_for DOID:8869 neuromyelitis optica ECO:0000270 expression pattern evidence used in manual assertion PMID:23041403 20210622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:18697873 20091002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:5327 retinal detachment ECO:0000270 expression pattern evidence used in manual assertion PMID:21978265 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:5327 retinal detachment ECO:0000270 expression pattern evidence used in manual assertion PMID:1800167 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33690 MIR944 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28964576 20220831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29136 KDM4B is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21445275 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11478488 20100422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:22271757 20140421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21865112 20140421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26681223 20211228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28000885 20200204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:3963 thyroid gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32626543 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:4166 syphilis ECO:0000270 expression pattern evidence used in manual assertion PMID:27284313 20200810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3685 FGF7 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9285567 20080121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:13129 severe pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:33778218 20221014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:13129 severe pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:31487655 20221014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31529 MIR142 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:32544883 20230411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31496 MIR107 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26191213 20191007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31496 MIR107 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30738047 20191007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31496 MIR107 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28079796 20191007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31496 MIR107 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27773820 20191007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6358 KLK10 is_marker_for DOID:363 uterine cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16647913 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8264230 20170906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14361 IRX5 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16753336 20230706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22883669 20230412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19496787 20230412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23558072 20230412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25449037 20230412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21438004 20230412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28801286 20230412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:30950843 20230822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19886850 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B is_marker_for DOID:0060691 platelet-type bleeding disorder 16 ECO:0000270 expression pattern evidence used in manual assertion PMID:23912132 20160128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:8363440 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24961 HOPX is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:12920479 20230821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18588971 20170925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:4029 gastritis ECO:0000270 expression pattern evidence used in manual assertion PMID:29250766 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20860816 20130109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9541628 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:14723991 20081023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7174 MMP7 is_marker_for DOID:0080365 endometrial hyperplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:17352221 20080707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:319 spinal cord disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30327453 20190926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:19269197 20090626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_marker_for DOID:4971 myelofibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16127162 20160120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6030 IL9R is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:10629460 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32341 MIR484 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28982084 20180801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:331 central nervous system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9000037 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31646828 20220215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:401 multidrug-resistant tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25483347 20200810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:18825489 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3959 FRZB is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:28240822 20200629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:21446916 20230621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22978 KDM4A is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23168260 20141014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29081408 20180803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22459351 20180803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4852 HDAC1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22772764 20141113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21211006 20110329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17466450 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:7535324 20190612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31866771 20200221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9310959 20170622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31541 MIR154 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26048406 20220624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31541 MIR154 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24242044 20220624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_marker_for DOID:11832 visual epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:22509781 20130828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11753760 20131017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:9408 acute myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:31866771 20200221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14067 HDAC7 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23724067 20141119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:884791 20070803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11815996 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:1858 McCune Albright syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16720661 20170209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:350 mastocytosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9519779 20170622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:10247 pleurisy ECO:0000270 expression pattern evidence used in manual assertion PMID:19714575 20101108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4238 GFI1B is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:17156408 20160309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15228427 20090324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:20805419 20121023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15025679 20090609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4709 GZMB is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5273 HSPG2 is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16620836 20070507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32256824 20210126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31577 MIR20A is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26560875 20200507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4605 GRP is_marker_for DOID:1074 kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:30146822 20230801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30194167 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29909906 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28413645 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6118 IRF3 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:22410570 20170314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_marker_for DOID:2018 hyperinsulinism ECO:0000270 expression pattern evidence used in manual assertion PMID:1592086 20150729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_marker_for DOID:2018 hyperinsulinism ECO:0000270 expression pattern evidence used in manual assertion PMID:11095452 20150729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:557 kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23547217 20130604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:23244125 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3976 FTH1 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32406594 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3976 FTH1 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32365221 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30128035 20210722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29465809 20210722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32867667 20220215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31606 MIR23B is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21577 KDM1B is_marker_for DOID:768 retinoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16180235 20141023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6876 MAPK14 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32243890 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20601655 20101206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26660358 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28120341 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4115 GALC is_marker_for DOID:13276 Mycoplasma pneumoniae pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:29301655 20200911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4115 GALC is_marker_for DOID:13276 Mycoplasma pneumoniae pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:12225900 20200911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4115 GALC is_marker_for DOID:13276 Mycoplasma pneumoniae pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:30396892 20200911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4115 GALC is_marker_for DOID:13276 Mycoplasma pneumoniae pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:27490360 20200911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:34708885 20220930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:21622133 20220930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32504672 20210403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_marker_for DOID:12205 dengue disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19845402 20111109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28660148 20190711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20422882 20190711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6381 KMO is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:21036897 20180308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6860 MAP3K8 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10490831 20220216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20392482 20110412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20815 KDM3A is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20127736 20141120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20815 KDM3A is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22120715 20141120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15810085 20100405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16905 KLHL41 is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11583900 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:10140 dry eye syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23752063 20130930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6480 LALBA is_marker_for DOID:2326 gastroenteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:1327323 20200911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:28259968 20210115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:27942586 20210115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19386436 20110303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_marker_for DOID:1245 vulva cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10027405 20080609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16303141 20120319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:9034992 20111216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_marker_for DOID:7147 ankylosing spondylitis ECO:0000270 expression pattern evidence used in manual assertion PMID:8453794 20111014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19276553 20150622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:2048 autoimmune hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29233784 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:2048 autoimmune hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29323192 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3821 FOXO3 is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:23278239 20151020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18788 KLRK1 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17287408 20081029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0050625 biliary tract benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:18159174 20100317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:77 gastrointestinal system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16477536 20111116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:22711276 20141114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31535 MIR148A is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28211508 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28982915 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24595450 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21229610 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25391771 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16403491 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20438838 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31609 MIR25 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24593846 20191217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31609 MIR25 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27298561 20191217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31609 MIR25 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21098710 20191217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31609 MIR25 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30191950 20191217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:12051403 20140717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23322774 20220720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24931456 20220720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4605 GRP is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30146822 20230801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15194590 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31497 MIR10A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:34969361 20220819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6234 KCNC2 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18474104 20150129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9853108 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:8553 pyoderma gangrenosum ECO:0000270 expression pattern evidence used in manual assertion PMID:21658319 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31605 MIR23A is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:21693609 20150715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32339054 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4556 GPX4 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21868509 20220627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL is_marker_for DOID:8692 myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:10621836 20151211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19858233 20101105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15517230 20080609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:10017 multiple endocrine neoplasia type 1 ECO:0000270 expression pattern evidence used in manual assertion PMID:8098714 20100421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:12556 acute kidney tubular necrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12081583 20130617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:4866 salivary gland adenoid cystic carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28668836 20200330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9158005 20091209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5033 HNRNPA2B1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:2846790 20150107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3665 FGF1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14613644 20080304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6325 KIF5C is_marker_for DOID:0110042 Alzheimer's disease 3 ECO:0000270 expression pattern evidence used in manual assertion PMID:24569455 20170412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:10241 thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11732868 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31200834 20220216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6002 IL20 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:16947773 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6950 MCM7 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15548371 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:11265 trachoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18628987 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31589 MIR212 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23585551 20230220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20209309 20100825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:11713 diabetic angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16338763 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:25403265 20200806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12818091 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15184199 20101103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3798 FOSL2 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30326930 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20476641 20200408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18713300 20200408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30052309 20200408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0050697 chorioamnionitis ECO:0000270 expression pattern evidence used in manual assertion PMID:25011638 20170313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0050697 chorioamnionitis ECO:0000270 expression pattern evidence used in manual assertion PMID:25687566 20170313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0050697 chorioamnionitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15547537 20170313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5475 IGFBP6 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10069662 20081029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28641905 20220622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31773 MIR335 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21822301 20190318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22527881 20151026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:10094932 20120229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 is_marker_for DOID:8725 vascular dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:25261450 20180920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6584 LHB is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20651845 20200604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28859 HILPDA is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28859 HILPDA is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30205391 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28859 HILPDA is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31142329 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:3382 liposarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28036291 20200403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6341 KISS1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17164231 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16489975 20090826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:12662 paracoccidioidomycosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28992214 20201014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:0050169 cutaneous lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:20493423 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:10825 essential hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:22923545 20130606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7778849 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:12787306 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31081047 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27484093 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30610790 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30304975 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23724067 20141119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31541 MIR154 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25386559 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:12297 Vogt-Koyanagi-Harada disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21334264 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25420511 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22392353 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7174 MMP7 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17352221 20080707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:20071151 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 is_marker_for DOID:0090131 complex cortical dysplasia with other brain malformations ECO:0000270 expression pattern evidence used in manual assertion PMID:22759905 20161109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7165 MMP19 is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11438176 20070829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31619 MIR29B1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:29374012 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31619 MIR29B1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:33116722 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:28843383 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14063 HDAC4 is_marker_for DOID:3627 aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:19389706 20141201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:29056230 20190905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20842 FOXP4 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:16952980 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11669408 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:321 tropical spastic paraparesis ECO:0000270 expression pattern evidence used in manual assertion PMID:28101786 20200831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:321 tropical spastic paraparesis ECO:0000270 expression pattern evidence used in manual assertion PMID:20945034 20200831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:9620 vesicoureteral reflux ECO:0000270 expression pattern evidence used in manual assertion PMID:14760498 20130424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:12768791 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:30989723 20220927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6128 IRS4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29185229 20220207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6128 IRS4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30410539 20220207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6128 IRS4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29353348 20220207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17016 KAT7 is_marker_for DOID:4674 androgen insensitivity syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23707616 20141126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16460885 20061208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26078356 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31321740 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28165553 20230317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33541284 20230317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31054453 20230317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9090470 20121113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4006 FUCA1 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:3609421 20100118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18062 GPT2 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22922605 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:13208 background diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23853629 20151016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31866771 20200221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5258 HSP90AB1 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24796583 20220519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26893476 20190708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32087 MIR193B is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27071318 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32087 MIR193B is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25374225 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32960907 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30710422 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26263159 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:12241 beta thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23905873 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:1040 chronic lymphocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21911837 20160728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15806265 20190610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:3565 meningioma ECO:0000270 expression pattern evidence used in manual assertion PMID:12115353 20140314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28087189 20180917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15532 JAM3 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:23001478 20131206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15532 JAM3 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:19439502 20131206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6656 LNPEP is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17692401 20091208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12824952 20231003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20685819 20231003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31501 MIR122 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:22105316 20190514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4709 GZMB is_marker_for DOID:2799 bronchiolitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:19737140 20110726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24448241 20141119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:7298798 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:11758 iron deficiency anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:647925 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:34708885 20220930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18541 KMT2E is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24200674 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32839292 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29368621 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31541342 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27929120 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30309804 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31648 MIR96 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25813403 20191217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31648 MIR96 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28892647 20191217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32099 MIR520A is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:25017274 20230125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19013462 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5439 IFNGR1 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20655098 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:1361232 20081014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18788 KLRK1 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:26518141 20201118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18788 KLRK1 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:27091211 20201118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_marker_for DOID:1790 malignant mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:18681782 20220527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:36453417 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32083 MIR432 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33603486 20220718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32360286 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21163 MDC1 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23569343 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:17511582 20101103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18279437 20100113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7421 MT-CO2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31396300 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4620 GSN is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:9142022 20230426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6860 MAP3K8 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:28724746 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5209 HSD11B2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17519316 20090618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18254958 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21624249 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22178867 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4271 GIPR is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17395281 20090825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6843 MAP2K3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24233520 20131213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6843 MAP2K3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12618338 20131213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20484935 20130115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18437 HAVCR2 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21263071 20110726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:11589847 20070828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3678 FGF21 is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:32195457 20200408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:12241 beta thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:20126808 20160414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_marker_for DOID:12662 paracoccidioidomycosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28992214 20201014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31584 MIR206 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25960238 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6367 KLK6 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17303231 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3797 FOSB is_marker_for DOID:9973 substance dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:27494187 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21624249 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:1724 duodenal ulcer ECO:0000270 expression pattern evidence used in manual assertion PMID:31702083 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28871 IER2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32009420 20220816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18510618 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32677805 20211029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21523363 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25894568 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25350775 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31579 MIR200B is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28211508 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16211407 20081028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4852 HDAC1 is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28990066 20221025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5475 IGFBP6 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15705628 20081029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16627934 20140821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:16518755 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:16613997 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5034 HNRNPAB is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24638979 20150812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10644865 20130123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0050700 cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16681691 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_marker_for DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18419255 20121102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17942922 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22299064 20120203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:21311206 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:8652157 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_marker_for DOID:1920 hyperuricemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19033255 20120919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6358 KLK10 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18766180 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_marker_for DOID:3454 brain infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:16109314 20070813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:1967 leiomyosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15823121 20080220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6364 KLK3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10069662 20081029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31616 MIR29A is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:32544883 20230411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_marker_for DOID:8725 vascular dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:25261450 20180927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31777 MIR340 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27998770 20200127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31591 MIR214 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:30049682 20230518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16123358 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20021311 20110316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21367591 20110316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20957478 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:12853069 20090528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:0080685 aortic dissection ECO:0000270 expression pattern evidence used in manual assertion PMID:33403385 20230219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:676 juvenile rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:18334024 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9111645 20080613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5154 HPGD is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:24657469 20170116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4566 GRB2 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22459351 20171026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:15118287 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14064 HDAC6 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:19147762 20090325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15316122 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:0111563 Sturge-Weber syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23720035 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:865 vasculitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16504995 20061130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8638 KAT2B is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19525977 20141124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5275 KAT5 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22199269 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29408335 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24718681 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32106377 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:12306 vitiligo ECO:0000270 expression pattern evidence used in manual assertion PMID:22342018 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31616 MIR29A is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:29374012 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31616 MIR29A is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:33116722 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29408335 20210610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31541 MIR154 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33195697 20220624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_marker_for DOID:5016 hepatocellular clear cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20723213 20190725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31497 MIR10A is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28211508 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:7787209 20090623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8077049 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:10588 adrenoleukodystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:23185624 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17585860 20101230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:2508 Takayasu's arteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:23100088 20140709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 is_marker_for DOID:3829 pituitary adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24169548 20180921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6065 INHA is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9506758 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:30147020 20210204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31573 MIR199B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30536310 20190617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30839434 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30089409 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4081 GABRB1 is_marker_for DOID:12849 autistic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:20066485 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27156371 20200428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30366049 20200428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:1697 ichthyosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18780604 20170209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6293 KCNN4 is_marker_for DOID:4724 brain edema ECO:0000270 expression pattern evidence used in manual assertion PMID:27487831 20230726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25193287 20201016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26531720 20200207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30967300 20200207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:21693493 20120524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:8692 myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23716272 20170210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31053540 20201030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25545245 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17526676 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21308147 20121203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:19211267 20140806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17020 IRAK3 is_marker_for DOID:399 tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19535630 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1092 FOXL2 is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32517588 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31396300 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5294 HTR2B is_marker_for DOID:0080546 non-alcoholic fatty liver ECO:0000270 expression pattern evidence used in manual assertion PMID:33081272 20231110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:14605041 20140227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21689 FIS1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19605646 20170131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11961486 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:7635566 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0080746 Sweet syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21658319 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7047 MGAT4A is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16434023 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:30927737 20200330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29325325 20200330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29668922 20200330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29438285 20200330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17044913 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6005 IL21 is_marker_for DOID:2048 autoimmune hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:27386263 20210622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:11204 allergic conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:9191598 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20716936 20101109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:19269197 20090626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31396300 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30610790 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18335393 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15525877 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31530 MIR143 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31245295 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21309737 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:12241 beta thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22885163 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS is_marker_for DOID:1115 sarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21677541 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS is_marker_for DOID:1115 sarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21658743 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:13949 interstitial cystitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21166752 20120524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:23957217 20210416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:18194448 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:19734590 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:28700503 20230125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:11204 allergic conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:8766745 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32486357 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28586045 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 is_marker_for DOID:409 liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17306787 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21251883 20130118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19321167 20111103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18663744 20170913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21484527 20111110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20303190 20111110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:853 polymyalgia rheumatica ECO:0000270 expression pattern evidence used in manual assertion PMID:11796404 20130306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4078 GABRA4 is_marker_for DOID:12849 autistic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:20066485 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:11981 morbid obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:11889184 20070816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20223231 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25477028 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22956424 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26880855 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20956945 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33467964 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32026 MIR433 is_marker_for DOID:0050700 cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:27698941 20190819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32880 MIR624 is_marker_for DOID:3347 osteosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31829261 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:12598526 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:8810593 20100916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18065658 20100916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31566 MIR195 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25607636 20191217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3608 FCAR is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22451718 20130326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:11396 pulmonary edema ECO:0000270 expression pattern evidence used in manual assertion PMID:26437894 20201102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4687 GUCY1B1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15571982 20151013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:9580247 20090610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19526193 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16781892 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15865221 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15602737 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17872527 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:627 severe combined immunodeficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:2342538 20070226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32106 MIR518B is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28849154 20180727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:20606426 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:16952784 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14506643 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14627343 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:18562176 20081023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:10967068 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:26717922 20190419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:20026018 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:16114559 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:9146 visceral leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:29745990 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5381 IDE is_marker_for DOID:0050850 diabetic encephalopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:27306699 20180928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:9206 Barrett's esophagus ECO:0000270 expression pattern evidence used in manual assertion PMID:18006928 20170208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29136 KDM4B is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21930796 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6161 ITGB6 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18221819 20081205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:25112700 20201109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21037074 20201109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16734115 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:12872394 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4803 HADHB is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11430884 20070327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3686 FGF8 is_marker_for DOID:3308 embryonal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11764380 20080129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:28902846 20191204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4510 KISS1R is_marker_for DOID:3113 papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11994395 20070129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:10506722 20111220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12357047 20140211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7664295 20080428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22230324 20210423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29275358 20190426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:2987 familial mediterranean fever ECO:0000270 expression pattern evidence used in manual assertion PMID:20518740 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14063 HDAC4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21837748 20141201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32360286 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11940314 20190905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27793641 20190905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10572675 20190905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20506642 20101129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22638884 20220722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32104069 20220722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:7686390 20160803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP is_marker_for DOID:2355 anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22689680 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP is_marker_for DOID:2355 anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:25052873 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7161 MMP15 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15928670 20091209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31619 MIR29B1 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22003392 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5329 IAPP is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19033417 20090918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31530 MIR143 is_marker_for DOID:824 periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:31021403 20230202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:30964207 20200312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5987 IL18BP is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20026745 20101206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 is_marker_for DOID:13375 temporal arteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21220737 20120420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6860 MAP3K8 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23322277 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6860 MAP3K8 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29763718 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20422307 20200204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28427226 20200204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6221 KCNA3 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:24524604 20230830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:17923414 20140630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31577 MIR20A is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27756776 20200501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27856635 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28418858 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29361687 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:13025 retinopathy of prematurity ECO:0000270 expression pattern evidence used in manual assertion PMID:10751359 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5329 IAPP is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:2441214 20150202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5329 IAPP is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19100955 20150202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA is_marker_for DOID:10126 keratoconus ECO:0000270 expression pattern evidence used in manual assertion PMID:24194634 20160310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_marker_for DOID:9362 status asthmaticus ECO:0000270 expression pattern evidence used in manual assertion PMID:10731862 20110419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:30938910 20210202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:20625373 20210202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:1555 urticaria ECO:0000270 expression pattern evidence used in manual assertion PMID:24490166 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27798881 20180531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21730877 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15714119 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_marker_for DOID:11650 bronchopulmonary dysplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:18097062 20101230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31851564 20210308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:21203453 20120130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30215 MACC1 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33603486 20220718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_marker_for DOID:13413 hepatic encephalopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11521994 20111114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29079 KDM1A is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22199269 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:12689 acoustic neuroma ECO:0000270 expression pattern evidence used in manual assertion PMID:21788435 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:0080784 urinary tract infection ECO:0000270 expression pattern evidence used in manual assertion PMID:24937428 20210409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:6171 uterine carcinosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17367465 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:16647277 20151029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6445 KRT7 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18393293 20100326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:9471 meningitis ECO:0000270 expression pattern evidence used in manual assertion PMID:7521338 20111118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6206 JUND is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15927205 20220725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:23135864 20130618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21467131 20130618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5475 IGFBP6 is_marker_for DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23808406 20151110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:1205 allergic disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7524984 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:1205 allergic disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15587302 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_marker_for DOID:12849 autistic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:21892962 20111031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:30201338 20230201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20697033 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5987 IL18BP is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12462332 20190708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31605 MIR23A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22318941 20190617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31509 MIR127 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24854842 20220615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:6543 acne ECO:0000270 expression pattern evidence used in manual assertion PMID:7608381 20140326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4042 FZD4 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18068632 20080715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:26065992 20200504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:13328 diabetic cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:12518238 20151012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10420202 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18758789 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9111645 20080613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:7147 ankylosing spondylitis ECO:0000270 expression pattern evidence used in manual assertion PMID:9851264 20151027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:21984735 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:27927859 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_marker_for DOID:934 viral infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21235417 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28600172 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23322774 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30396078 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19242066 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26173758 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29928882 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8685603 20080707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:869 cholesteatoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8725537 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:869 cholesteatoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1384343 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32481602 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32023 MIR363 is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:31028191 20231212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:4606 bile duct cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29860474 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31591 MIR214 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25728840 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:10473513 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:9034992 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_marker_for DOID:0050424 familial adenomatous polyposis ECO:0000270 expression pattern evidence used in manual assertion PMID:25307863 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:14323 Marfan syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16820601 20190122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15451 GOLM1 is_marker_for DOID:2237 hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21140449 20230922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5192 HES1 is_marker_for DOID:264 hemangiopericytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26951238 20221110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6024 IL7R is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21159243 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19957810 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4237 GFI1 is_marker_for DOID:1240 leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:20723283 20160308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24716838 20191015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15925904 20130115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5971 IL12RB1 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:23910013 20190821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6915 MB is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:23497406 20130529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6059 IDO1 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21765346 20201027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25482013 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25672320 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28274596 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9393761 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:8162643 20140108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:4465 papillary renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23449350 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_marker_for DOID:9663 aphthous stomatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20580281 20170615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_marker_for DOID:1824 status epilepticus ECO:0000270 expression pattern evidence used in manual assertion PMID:22509781 20130828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4605 GRP is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30146822 20230801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32481602 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:0050731 vitamin B12 deficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:11115425 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:18937705 20100105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:11123 Henoch-Schoenlein purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:20013271 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23633480 20190827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27601233 20190628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22764573 20120823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5975 IL13RA2 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:15161635 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:1520 colon carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33296605 20220330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:27942586 20210113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19170121 20100325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16093869 20151110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:3179 inverted papilloma ECO:0000270 expression pattern evidence used in manual assertion PMID:22730814 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:22868384 20151016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:26010154 20210127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31636 MIR34B is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21558425 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:9498 pulmonary eosinophilia ECO:0000270 expression pattern evidence used in manual assertion PMID:12765419 20160729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:9498 pulmonary eosinophilia ECO:0000270 expression pattern evidence used in manual assertion PMID:17597386 20160729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8586980 20150708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19605646 20170131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31396300 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6950 MCM7 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27298561 20191217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:3963 thyroid gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32626543 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18758789 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:32195457 20200408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_marker_for DOID:3347 osteosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35117781 20230224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6866 MAP4K4 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26549737 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32481602 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:0080334 aortic valve disease 2 ECO:0000270 expression pattern evidence used in manual assertion PMID:23615040 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:20606426 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:31355307 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20699612 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19023114 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:2043024 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19703762 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27957666 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24228025 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:12716739 20070816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12515899 20151102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_marker_for DOID:0080222 pseudohypoparathyroidism type IB ECO:0000270 expression pattern evidence used in manual assertion PMID:18812479 20161207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:7787209 20090623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:21425123 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19799786 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5181 HRG is_marker_for DOID:4074 pancreatic adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21713765 20160401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17568330 20110907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15644645 20110907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 is_marker_for DOID:0111563 Sturge-Weber syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12621118 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13177 IKZF2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26460798 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8777922 20131108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:25497370 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:28446295 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:264 hemangiopericytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26951238 20221110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31579 MIR200B is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:26125439 20220830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:9271 ornithine carbamoyltransferase deficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:16703326 20170209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:23157389 20210519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16974053 20100430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6915 MB is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32406594 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6915 MB is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32125452 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19197140 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20817868 20110304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_marker_for DOID:4250 conjunctivochalasis ECO:0000270 expression pattern evidence used in manual assertion PMID:20861728 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4318 GLI2 is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:25746691 20170405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:11123 Henoch-Schoenlein purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:33280050 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29129808 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4600 GRM8 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15589052 20120717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16867026 20110406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:18355767 20110406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20980 LRRN1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28035468 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:8869 neuromyelitis optica ECO:0000270 expression pattern evidence used in manual assertion PMID:20128675 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5469 IGFBP1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10069662 20081029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16181175 20061129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15681824 20070712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4114 GAL is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15735230 20091013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22307136 20161215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:20631454 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_marker_for DOID:0060691 platelet-type bleeding disorder 16 ECO:0000270 expression pattern evidence used in manual assertion PMID:23912132 20160128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:18430502 20120514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:2893 cervix carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11997082 20090324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4800 HSD17B10 is_marker_for DOID:3347 osteosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19449377 20180928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18769539 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17934472 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:11123 Henoch-Schoenlein purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:16787590 20160729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4171 GATA2 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25230694 20210712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17154373 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29303510 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31577 MIR20A is_marker_for DOID:11166 Human papillomavirus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26781875 20200507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27609361 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18941641 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22719980 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24819036 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14555548 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16556139 20121031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3685 FGF7 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9070494 20080926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4040 FZD2 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12909487 20080715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:6665521 20130114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10224452 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17933 KAT8 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23394073 20140925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29567880 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32276600 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4800 HSD17B10 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9338779 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30128035 20210722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29465809 20210722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:0060180 colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28423665 20201023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:8255671 20170615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31501 MIR122 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:27528885 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19013462 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18788 KLRK1 is_marker_for DOID:399 tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23922903 20200923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24931456 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:12419930 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:5577 gastrinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12114431 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29532228 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5045 HNRNPL is_marker_for DOID:1319 brain cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15543619 20150424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:4948 gallbladder carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26885061 20200217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17933 KAT8 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22199269 20140925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30789971 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4238 GFI1B is_marker_for DOID:12449 aplastic anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:17156408 20160309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18129 GHRL is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20930430 20130409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22461702 20170524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6224 KCNA5 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:17596340 20070821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:0081267 graft-versus-host disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16928315 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:0081267 graft-versus-host disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25034146 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:0050424 familial adenomatous polyposis ECO:0000270 expression pattern evidence used in manual assertion PMID:30072583 20200324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:18446686 20090619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30880765 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19762144 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:1973621 20080221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5144 HPCA is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22696308 20150210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:42470 LINC00342 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22202438 20160428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18363 IFNL1 is_marker_for DOID:12205 dengue disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28238051 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:37187 MIR31HG is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29605445 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:20606426 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:16169329 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6383 KNG1 is_marker_for DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23808406 20151110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_marker_for DOID:676 juvenile rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19811310 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7408 MT3 is_marker_for DOID:4752 multiple system atrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:20039155 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:13636 Fanconi anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24021704 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16818635 20100412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15308504 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:0050634 alopecia universalis ECO:0000270 expression pattern evidence used in manual assertion PMID:20671941 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:3322910 20090625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:5041 esophageal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29660336 20200324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7156 MMP10 is_marker_for DOID:10588 adrenoleukodystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:23185624 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15451 GOLM1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21140449 20230922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15451 GOLM1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21443671 20230922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:11111 hydronephrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21279810 20130618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19411568 20110404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:11656 cicatricial pemphigoid ECO:0000270 expression pattern evidence used in manual assertion PMID:11448121 20140407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5988 IL18R1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26893476 20190708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18719053 20090721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:8549 chronic ulcer of skin ECO:0000270 expression pattern evidence used in manual assertion PMID:8099861 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6029 IL9 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:15303135 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26581505 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:28301691 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23352434 20130605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:8444271 20140108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31516 MIR132 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23585551 20230220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29136 KDM4B is_marker_for DOID:0050902 medulloblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19270706 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_marker_for DOID:9471 meningitis ECO:0000270 expression pattern evidence used in manual assertion PMID:9262228 20110926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7175 MMP8 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18366705 20080710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27557564 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6345 KLF1 is_marker_for DOID:1339 Diamond-Blackfan anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22965552 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:12241 beta thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21576933 20160412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:22066978 20221014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:35799735 20221014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3650 FEN1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19010819 20120620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19208460 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20026745 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5468 IGFALS is_marker_for DOID:3490 Noonan syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16263833 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26338827 20210201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:4644 epidermolysis bullosa simplex ECO:0000270 expression pattern evidence used in manual assertion PMID:23894602 20170721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:11981 morbid obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16046292 20070801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:25403265 20200806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11034943 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:27689251 20200424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23374247 20220414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:28073885 20230621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:26763077 20230621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4485 GPER1 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28467693 20201020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:33859620 20230830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7459 MT-ND4 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10447460 20111020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4977 HLF is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28035468 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3685 FGF7 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:9358773 20210601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3687 FGF9 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31884893 20220520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:9112337 20121102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:13276 Mycoplasma pneumoniae pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:20416219 20101115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5218 HSD3B2 is_marker_for DOID:11612 polycystic ovary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11739466 20101119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21303360 20200805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3647 FECH is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28075030 20190822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:10584 retinitis pigmentosa ECO:0000270 expression pattern evidence used in manual assertion PMID:20053975 20140312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:9008 psoriatic arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:11796404 20130306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6345 KLF1 is_marker_for DOID:0090016 chromosome 5q deletion syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22965552 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15211075 20111110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:0050589 inflammatory bowel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12548059 20111116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:2797 idiopathic interstitial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:19218648 20101108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:12689659 20140521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32025 MIR18B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23496901 20191205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28155253 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:1924 hypogonadism ECO:0000270 expression pattern evidence used in manual assertion PMID:20221887 20100317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29420849 20200324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6059 IDO1 is_marker_for DOID:12205 dengue disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31821895 20201027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7060 MGP is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17960611 20090319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3647 FECH is_marker_for DOID:13271 cutaneous porphyria ECO:0000270 expression pattern evidence used in manual assertion PMID:1184741 20101028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6005 IL21 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:31414711 20210617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3821 FOXO3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18336616 20081030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:2987 familial mediterranean fever ECO:0000270 expression pattern evidence used in manual assertion PMID:16273770 20140521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23266085 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22199269 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_marker_for DOID:1520 colon carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20433758 20211118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:24465168 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32087 MIR193B is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29226653 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:19190951 20230823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9775393 20150706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3798 FOSL2 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26581505 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19758438 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30227324 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:2125901 20140131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:0080539 PEHO syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11701291 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6374 KLRC1 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:17553896 20201109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:21370226 20111014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:8725 vascular dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:16181175 20061129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5970 IL12B is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:16114559 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5970 IL12B is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23962500 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28844060 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25753767 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31819557 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27832630 20200428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4567 GRB7 is_marker_for DOID:1107 esophageal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8988034 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4421 GNRHR is_marker_for DOID:0060643 primary sclerosing cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28502477 20190916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5237 HSPA4 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22349026 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11727267 20101103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3798 FOSL2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:35034245 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3798 FOSL2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30114390 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28198398 20200403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:12662 paracoccidioidomycosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28992214 20201014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:10487 Hirschsprung's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9247236 20170623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:10487 Hirschsprung's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8831584 20170623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17873897 20120509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23530909 20230411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6997 MEF2D is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25472877 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:10608 celiac disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27545437 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32076 MIR491 is_marker_for DOID:8649 tongue cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25749387 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:7564170 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18035688 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17572184 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:34299137 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23758639 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6596 LIF is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29899555 20220217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5969 IL12A is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:30243010 20200421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22638884 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15644645 20110907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:9310982 20230201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:32602008 20230201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:32595526 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18652760 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4552 GPT is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30185098 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20079227 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5990 IL19 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:15557163 20110303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28281237 20200228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:3905 lung carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26397387 20210716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5030 HNRNPA0 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23007704 20150407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3798 FOSL2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30086463 20220819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3798 FOSL2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32048611 20220819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26958084 20200207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31635 MIR34A is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:30048987 20220520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29136 KDM4B is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21930796 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23589561 20160823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4852 HDAC1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:22711276 20141114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11174201 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16734560 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:31118273 20200430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:0080745 polymyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:19953283 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3767 FLT4 is_marker_for DOID:1475 lymphangioma ECO:0000270 expression pattern evidence used in manual assertion PMID:17584927 20140421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22133301 20150702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:4195 hyperglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:12679866 20121105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:8997 polycythemia vera ECO:0000270 expression pattern evidence used in manual assertion PMID:8569275 20160414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:11476 osteoporosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9284698 20151027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:0060669 cerebral cavernous malformation ECO:0000270 expression pattern evidence used in manual assertion PMID:11220380 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6116 IRF1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:10225979 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32055 MIR409 is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:23360331 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_marker_for DOID:9246 cerebral amyloid angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17021406 20070327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:2290165 20150618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:20493423 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:11516 hypertensive heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:32040481 20210205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10874008 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4331 GLS is_marker_for DOID:3319 lymphangioleiomyomatosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29885404 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28301691 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 is_marker_for DOID:8704 genital herpes ECO:0000270 expression pattern evidence used in manual assertion PMID:21175248 20120130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4739 H2AX is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29928356 20210818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29012 KDM6B is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23057811 20141021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:5520 head and neck squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30617160 20200221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:4251 conjunctival disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19158563 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19670414 20190910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:7736 retinal telangiectasia ECO:0000270 expression pattern evidence used in manual assertion PMID:23221067 20140404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19936701 20100105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29665 MALAT1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:31472145 20220519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19705789 20110316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31880 MIR423 is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:32984995 20230320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5112 HOXB13 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16803519 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17937859 20090326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4567 GRB7 is_marker_for DOID:0050922 gastrointestinal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16849520 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31530 MIR143 is_marker_for DOID:0080685 aortic dissection ECO:0000270 expression pattern evidence used in manual assertion PMID:28167124 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31530 MIR143 is_marker_for DOID:0080685 aortic dissection ECO:0000270 expression pattern evidence used in manual assertion PMID:30787994 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20209309 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15841074 20080220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:12375 bronchopneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:19804807 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11238038 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6145 ITGA9 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22491060 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:22286923 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:24387171 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16600798 20081028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21609933 20170907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23109646 20140711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12903495 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13718 FOSL1 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17254320 20080612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20412 KRT20 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23322277 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:4195 hyperglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23686079 20230621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:13767 clonorchiasis ECO:0000270 expression pattern evidence used in manual assertion PMID:26944417 20201019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20808962 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20713898 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:19228869 20090609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:31472145 20220519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_marker_for DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23178689 20180510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_marker_for DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:26850880 20180510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:1596 depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:31396300 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22518072 20120828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20447717 20210129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24963487 20210129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21749846 20210129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32104069 20220722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24667 MAPK15 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12917323 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:22286923 20140717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:12051403 20140717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23754336 20141022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:17553896 20201109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31579 MIR200B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28383782 20190916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31579 MIR200B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26919246 20190916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:2355 anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:3264697 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:12132 granulomatosis with polyangiitis ECO:0000270 expression pattern evidence used in manual assertion PMID:2772560 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7175 MMP8 is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16432074 20061115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20162456 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:20054029 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22541024 20200818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:2048 autoimmune hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:30034292 20190712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3959 FRZB is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27623992 20200629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:9972954 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB is_marker_for DOID:0050744 anaplastic large cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12145210 20150112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25098926 20210727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24156266 20180920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:12306 vitiligo ECO:0000270 expression pattern evidence used in manual assertion PMID:16911396 20140108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3796 FOS is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26581505 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:11166 Human papillomavirus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26010154 20210127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20713898 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:18759276 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:1371389 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:8099861 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:9408 acute myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:28374671 20230928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5974 IL13RA1 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:14527737 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:10128 venous insufficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:25495610 20160802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30653586 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25938589 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:10825 essential hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:22923545 20130606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3999 FTL is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32406594 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3999 FTL is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32365221 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21806828 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16298234 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5208 HSD11B1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16914598 20070518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11064355 20160621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:2280 hidradenitis suppurativa ECO:0000270 expression pattern evidence used in manual assertion PMID:28301691 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32104069 20220722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6250 KCNH1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18777199 20150211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27599544 20180123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:1394 urinary schistosomiasis ECO:0000270 expression pattern evidence used in manual assertion PMID:9697734 20130220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31530 MIR143 is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:32602008 20230201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31530 MIR143 is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:30201338 20230201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10022420 20080221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11956097 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4852 HDAC1 is_marker_for DOID:986 alopecia areata ECO:0000270 expression pattern evidence used in manual assertion PMID:21936853 20141112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7175 MMP8 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10502722 20090319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:9778 irritable bowel syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23826144 20210203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:13678974 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:824 periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22795294 20121025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP is_marker_for DOID:820 myocarditis ECO:0000270 expression pattern evidence used in manual assertion PMID:19615879 20160325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16579988 20070503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:17414718 20200810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:12306 vitiligo ECO:0000270 expression pattern evidence used in manual assertion PMID:22342018 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17642161 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:5577 gastrinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15867218 20130423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20186929 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18566918 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:8568 infectious mononucleosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23628056 20200818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22314025 20140717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:11796404 20140717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:7639798 20140717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5154 HPGD is_marker_for DOID:6255 growth hormone secreting pituitary adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22580984 20170116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:1307 dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:19242659 20151008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:11022130 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21334264 20140131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:2154346 20140131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24241 LETMD1 is_marker_for DOID:4451 renal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12879013 20150729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20815 KDM3A is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21541331 20141120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4171 GATA2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22786876 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4171 GATA2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24514424 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12364462 20080221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23200 HBP1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22586168 20151014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17221335 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:26084306 20200504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4037 FYN is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15708437 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:9342542 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN is_marker_for DOID:2526 prostate adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9748134 20080314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18988929 20090623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18978347 20090623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16696964 20090623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5244 HSPA9 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:23739258 20151027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6859 MAP3K7 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:27249171 20221230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3821 FOXO3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23585551 20151020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3821 FOXO3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23153928 20151020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19671251 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4964 HLA-G is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20044437 20110729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11846206 20081003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18566400 20081003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32663515 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:9972954 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_marker_for DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8562934 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23742775 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17256744 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:32319630 20230105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20350215 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:104 bacterial infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22668804 20131001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17725274 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:9111 cutaneous leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:29205403 20200806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:35460 MIR155HG is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27764782 20190121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:14176 selective IgG deficiency disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9042436 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 is_marker_for DOID:0050625 biliary tract benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:16505435 20100405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:9810 polyarteritis nodosa ECO:0000270 expression pattern evidence used in manual assertion PMID:15965421 20140516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31625 MIR30B is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28211508 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27157613 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31527 MIR140 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:32965005 20230503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31527 MIR140 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33495827 20230503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:1577 limited scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:20808962 20120510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4317 GLI1 is_marker_for DOID:0080016 spina bifida ECO:0000270 expression pattern evidence used in manual assertion PMID:26446020 20170330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21122381 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20815 KDM3A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21607773 20141120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:12135130 20061127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A is_marker_for DOID:1596 depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:10578452 20111129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:21086571 20200824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28925763 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15011822 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5468 IGFALS is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11248742 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:24387171 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20817868 20110304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6550 LECT2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24892551 20220817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_marker_for DOID:9651 systolic heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:23564583 20130828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29317648 20210415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19680 GPBAR1 is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28543567 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:20479761 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11148 FSCN1 is_marker_for DOID:4608 common bile duct neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:15136764 20100423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_marker_for DOID:14557 primary pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:29722558 20221216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4605 GRP is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30146822 20230801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21163861 20120302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16820601 20190122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24259486 20220613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31041878 20220613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25222251 20141022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6021 IL6ST is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10095017 20151102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:576 proteinuria ECO:0000270 expression pattern evidence used in manual assertion PMID:19377212 20090609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31606 MIR23B is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23758639 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:4029 gastritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22890997 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24192769 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28667493 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5994 IL1R2 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31921619 20220715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5994 IL1R2 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29942094 20220715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:0050741 alcohol dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:29912265 20200228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24711137 20190827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:1920 hyperuricemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23673972 20130604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15800680 20080314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15296997 20080602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:29479888 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4485 GPER1 is_marker_for DOID:14320 generalized anxiety disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:27512921 20201014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:31321740 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12644821 20090319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:83 cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:947404 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:17083831 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_marker_for DOID:6419 tetralogy of Fallot ECO:0000270 expression pattern evidence used in manual assertion PMID:16010294 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7376 MSR1 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17394628 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16996262 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10769643 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:30852102 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:27711113 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:824 periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22795294 20121025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:29997116 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:33748197 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13606 KDM2A is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24200691 20141023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32848 MIR592 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27661126 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:10983 Alport syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16509766 20130306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21309737 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:0070344 ocular tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22583692 20131001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17577251 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14900 IL22 is_marker_for DOID:399 tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21767990 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6715 LTBP2 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:22587491 20230307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:0060903 thrombosis ECO:0000270 expression pattern evidence used in manual assertion PMID:26411420 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31599 MIR22 is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:32195457 20200408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:5016 hepatocellular clear cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20723213 20190725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5300 HTR5A is_marker_for DOID:9428 intracranial hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:27487831 20230726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21567388 20211021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6848 MAP3K1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31310010 20220111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15153541 20110321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15823405 20081028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:15472203 20070824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21535180 20140818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20848408 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11359451 20140211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28411881 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:20601655 20101206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30008853 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29113212 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:5041 esophageal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26603620 20220715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25193287 20201016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11170144 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9285567 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12111699 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31577 MIR20A is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30030064 20200501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27203740 20220817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29737563 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3819 FOXO1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18336616 20081030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30123088 20210714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7175 MMP8 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15194590 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15807307 20080602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13610 KDM2B is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21310926 20141023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:1123 spondyloarthropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:9489833 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4852 HDAC1 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:19147762 20090325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15389592 20130425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:14630696 20070821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18254781 20080602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31530 MIR143 is_marker_for DOID:8725 vascular dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:36459592 20230131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13315 HDAC8 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15888697 20170817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29665 MALAT1 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:31472145 20220519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8638 KAT2B is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22199269 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5048 HNRNPU is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21194727 20150420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:6120756 20190910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6848 MAP3K1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18036273 20080529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:1389 polyneuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19131463 20090609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:19684010 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:9111 cutaneous leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:21091666 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_marker_for DOID:1205 allergic disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22545387 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:12540619 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4544 GRK5 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:22685168 20180321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4544 GRK5 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:26248277 20180321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29136 KDM4B is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22133676 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29183007 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8239179 20100917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25081668 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16750336 20090721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:0080827 human cytomegalovirus infection ECO:0000270 expression pattern evidence used in manual assertion PMID:23402302 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20012564 20130114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:21762495 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28871 IER2 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:34611309 20220816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4114 GAL is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:11220530 20070509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18334925 20111109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7174 MMP7 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7616276 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:10588 adrenoleukodystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:23185624 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29136 KDM4B is_marker_for DOID:986 alopecia areata ECO:0000270 expression pattern evidence used in manual assertion PMID:21936853 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14064 HDAC6 is_marker_for DOID:0050770 polycystic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24434010 20141203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4847 HCRT is_marker_for DOID:12842 Guillain-Barre syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15623725 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24027026 20180122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:29470951 20230227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6341 KISS1 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15949424 20081124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:29248968 20190429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:1967 leiomyosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17367465 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:10459 common cold ECO:0000270 expression pattern evidence used in manual assertion PMID:28471975 20201023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6319 KIF3A is_marker_for DOID:10325 silicosis ECO:0000270 expression pattern evidence used in manual assertion PMID:32042332 20230105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5046 HNRNPM is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18566572 20150803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:23406616 20170313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4824 HBA2 is_marker_for DOID:1099 alpha thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:4044827 20160104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:2938 Epstein-Barr virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18246047 20200824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:4948 gallbladder carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24167362 20220329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12185480 20130416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20490736 20130828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22328194 20130828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6240 KCNE1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:17384445 20170621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4847 HCRT is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:15627867 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11148 FSCN1 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19721413 20100423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6029 IL9 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12782818 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:22186238 20120201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:9493449 20120201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24292748 20200805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16185954 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:1673 pneumothorax ECO:0000270 expression pattern evidence used in manual assertion PMID:20526373 20101101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:0080552 congenital disorder of glycosylation Ia ECO:0000270 expression pattern evidence used in manual assertion PMID:19207313 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4964 HLA-G is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20487636 20110801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4567 GRB7 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17634422 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:5041 esophageal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27188433 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:5041 esophageal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22638884 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:13810 familial hypercholesterolemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16280123 20070829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31874165 20220624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15840 KMT2B is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24200674 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31622 MIR301A is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22003392 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28921383 20200204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14585103 20100114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19604272 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:10413701 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15334114 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4311 GCLC is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8705999 20160408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:17651148 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11576837 20130305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31648 MIR96 is_marker_for DOID:4752 multiple system atrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:24304186 20161018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6065 INHA is_marker_for DOID:2997 Sertoli-Leydig cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:17414107 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6934 MCAM is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23649916 20130927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31069596 20210712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22542304 20130607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5046 HNRNPM is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24381081 20150803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:10697556 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19578980 20120313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7060 MGP is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1399132 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9182821 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:399 tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25511588 20210423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:0050784 primary progressive multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15732261 20070712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3665 FGF1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7690426 20080707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA is_marker_for DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21436245 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:20668869 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11880199 20111103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6017 IL5RA is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15286446 20110314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:0050523 adult T-cell leukemia/lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16425276 20160729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24789592 20220525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31880 MIR423 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30326930 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:363 uterine cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15618002 20090324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15310308 20170208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11208906 20151119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:1498 cholera ECO:0000270 expression pattern evidence used in manual assertion PMID:28319200 20200424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:118 pericardial effusion ECO:0000270 expression pattern evidence used in manual assertion PMID:16360340 20061208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:18194448 20140227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6174 ITM2B is_marker_for DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 ECO:0000270 expression pattern evidence used in manual assertion PMID:11159188 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17287408 20081029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10069662 20081029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:13636 Fanconi anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24021704 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:12838021 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20019339 20110314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:31472145 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:21143924 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22267590 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5439 IFNGR1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20808962 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5035 HNRNPC is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19319956 20150805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19394054 20090928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22383183 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17306351 20080121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22772764 20141113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10590366 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:18619052 20090928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:1768380 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:869 cholesteatoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19484988 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:13025 retinopathy of prematurity ECO:0000270 expression pattern evidence used in manual assertion PMID:18408080 20140403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:24801815 20160428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:9146 visceral leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:23729024 20210309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32158193 20210625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33324588 20210928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:8881 rosacea ECO:0000270 expression pattern evidence used in manual assertion PMID:10509643 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31522 MIR136 is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32014687 20220830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19276553 20150622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25062733 20151103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0050685 small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20592377 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15178892 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10224452 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:23810210 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18788 KLRK1 is_marker_for DOID:0060704 lymphoproliferative syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22105417 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18479783 20151104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:4752 multiple system atrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:20683839 20111116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17434052 20070608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21455110 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7000 MEIS1 is_marker_for DOID:114 heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26597775 20221027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15034162 20130306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29254206 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 is_marker_for DOID:0070227 intrahepatic cholestasis of pregnancy ECO:0000270 expression pattern evidence used in manual assertion PMID:28697498 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22978 KDM4A is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23603248 20141014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:23335253 20140811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:1884 viral hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17158635 20200818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:1826 epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:23182966 20170718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16080559 20090326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4558 GPX6 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18588971 20170925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22772764 20141113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:8536 herpes zoster ECO:0000270 expression pattern evidence used in manual assertion PMID:21954956 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9641239 20180808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:369 olfactory neuroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18431543 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16636 KIF1B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26217094 20170206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19652645 20160325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31606 MIR23B is_marker_for DOID:8584 Burkitt lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27991481 20210129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:27317124 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:0080797 nasal type extranodal NK/T-cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29496492 20220414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:1024 leprosy ECO:0000270 expression pattern evidence used in manual assertion PMID:22641009 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_marker_for DOID:12554 hemolytic-uremic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:30467800 20201013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:9182 pemphigus ECO:0000270 expression pattern evidence used in manual assertion PMID:21327568 20140721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15602737 20200629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3766 FLT3LG is_marker_for DOID:12449 aplastic anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:7492765 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:27942586 20210113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:8444271 20140108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27994199 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30880765 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:12205 dengue disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26941580 20210201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22780915 20121127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17158635 20200818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22081608 20120306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:18354251 20120420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6783 MAG is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:2419505 20141231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31624 MIR30A is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25866116 20200709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:1580 diffuse scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:20338043 20170315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:9141532 20100114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6621 LIPE is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15609025 20091002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19291375 20100914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:2942 bronchiolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:8608647 20100916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:1099 alpha thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16760505 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5218 HSD3B2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18180323 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17482184 20080930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8632671 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:19043405 20210205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:2448994 20150708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:1588 thrombocytopenia ECO:0000270 expression pattern evidence used in manual assertion PMID:25128199 20160401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29079 KDM1A is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23423566 20141028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31505 MIR125A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30117667 20200312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31505 MIR125A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22322911 20200312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18039 KDM5B is_marker_for DOID:6039 uveal melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22669717 20141017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11054671 20080609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25550558 20220426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9886 KDM5A is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25162518 20141030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7616276 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7371 MSLN is_marker_for DOID:4897 bile duct carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17276942 20100618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:905 Zellweger syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21888010 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22414257 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:10126 keratoconus ECO:0000270 expression pattern evidence used in manual assertion PMID:22580443 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10854223 20210927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29642405 20190906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31496 MIR107 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28720759 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16405510 20161109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3685 FGF7 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17306351 20080121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7408 MT3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10595827 20150127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7408 MT3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:1464312 20150127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5209 HSD11B2 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16616286 20090618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22574900 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:9724118 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30789971 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16887362 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19156625 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:9613386 20140516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6065 INHA is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15583806 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4545 GRK6 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:10094932 20120229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19796283 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18704599 20100421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12717266 20100421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20350215 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:27323788 20210506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:28989535 20200428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:26923190 20200428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21658006 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18254318 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31606 MIR23B is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:31321740 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31585 MIR208A is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25728840 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17949555 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:0080546 non-alcoholic fatty liver ECO:0000270 expression pattern evidence used in manual assertion PMID:23730648 20190910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:9362 status asthmaticus ECO:0000270 expression pattern evidence used in manual assertion PMID:9927362 20100916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16600299 20070814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:9362 status asthmaticus ECO:0000270 expression pattern evidence used in manual assertion PMID:10934091 20101222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:13515 tuberous sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22459050 20140225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3685 FGF7 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9358773 20210601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:2568 cervicitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26010154 20210127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25480402 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9166545 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5988 IL18R1 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19265174 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9755363 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23322774 20220720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:9498 pulmonary eosinophilia ECO:0000270 expression pattern evidence used in manual assertion PMID:20796249 20100830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5044 HNRNPK is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21194727 20150420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:10887 lepromatous leprosy ECO:0000270 expression pattern evidence used in manual assertion PMID:26030183 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24092988 20171004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:8567 Hodgkin's lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21466366 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11742275 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14063 HDAC4 is_marker_for DOID:12704 ataxia telangiectasia ECO:0000270 expression pattern evidence used in manual assertion PMID:22466704 20141202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:0111363 Heinz body anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:20692194 20160414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:633 myositis ECO:0000270 expression pattern evidence used in manual assertion PMID:18251582 20140407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3766 FLT3LG is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:26521986 20160510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6169 ITIH4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24836184 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:10459 common cold ECO:0000270 expression pattern evidence used in manual assertion PMID:10358201 20100916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:11051455 20121102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31258681 20200204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30233216 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24955421 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6846 MAP2K6 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17577251 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19179066 20180720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6300 KCNS1 is_marker_for DOID:9428 intracranial hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:27487831 20230726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8819138 20120504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31086599 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25805734 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:2799 bronchiolitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:11889437 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22031307 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21677024 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:21623661 20121203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:21788435 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32104069 20220722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:9741 biliary tract disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11478488 20100422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29658 MESP1 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:33221518 20230328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4556 GPX4 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27957666 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6847 MAP2K7 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17577251 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6040 ILK is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14517840 20171027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31624 MIR30A is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25728840 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17207090 20120305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29112 IQSEC1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22491060 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32083 MIR432 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33717244 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22135852 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10865312 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:8437 intestinal obstruction ECO:0000270 expression pattern evidence used in manual assertion PMID:23826144 20210203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:12051401 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:3904 bronchus carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18764914 20101108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3796 FOS is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8264230 20170906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12526080 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10731924 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4201 KAT2A is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23543735 20180706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31577 MIR20A is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27650539 20200501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:3192 neurilemmoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17570036 20140421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:29847542 20210112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:22336080 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13718 FOSL1 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26581505 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:16952980 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:9117017 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21658006 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:19695190 20101115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15075441 20110913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22056596 20111110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:1800167 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18035688 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:17083831 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 is_marker_for DOID:2938 Epstein-Barr virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25041527 20210701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14068 HDAC5 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23724067 20141119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21467131 20130618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1337 KDM3B is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22345654 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22978 KDM4A is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22199269 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32481602 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6859 MAP3K7 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:32495070 20221219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5471 IGFBP2 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17426323 20070809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:7767546 20100916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6843 MAP2K3 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17406030 20070824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6029 IL9 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15303135 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6923 MBNL1 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:17464717 20150511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13610 KDM2B is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23321669 20141023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6131 IRF9 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:26216956 20210326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6621 LIPE is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10729384 20061028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21115613 20151109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5427 IFNA6 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:25774455 20200728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:8567 Hodgkin's lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7686390 20160803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18585501 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13765 IL25 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:23657503 20201217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23145 MAFA is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:24013263 20180209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9857239 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31501 MIR122 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:27899485 20190514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33510 HOTAIR is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:27317124 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6724 LUM is_marker_for DOID:799 varicose veins ECO:0000270 expression pattern evidence used in manual assertion PMID:15871312 20061101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6021 IL6ST is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:11778537 20070817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9783980 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17363521 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6134 ITGA1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9408292 20081119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8264230 20170906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:13375 temporal arteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15998676 20140225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:13375 temporal arteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:8843867 20140225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20538031 20121025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27497911 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25728840 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28871 IER2 is_marker_for DOID:0070323 childhood acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:34702297 20220815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32552762 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:824 periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:11876270 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:3611 acute retinal necrosis syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12928903 20140131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3685 FGF7 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17306351 20080121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15592684 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15990729 20070814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17949555 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22116092 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:11132 prostatic hypertrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:9215294 20130425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:0080933 immunoglobulin light chain amyloidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16164636 20130121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH is_marker_for DOID:3319 lymphangioleiomyomatosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29885404 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21730877 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5238 HSPA5 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:11315915 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:28411423 20210416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:23336369 20210416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6010 IL2RG is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32297828 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14900 IL22 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21297073 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14900 IL22 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21535180 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:32682061 20231128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16480593 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18363 IFNL1 is_marker_for DOID:8970 subacute sclerosing panencephalitis ECO:0000270 expression pattern evidence used in manual assertion PMID:30077763 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:13189 gout ECO:0000270 expression pattern evidence used in manual assertion PMID:30863362 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20233326 20220722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3686 FGF8 is_marker_for DOID:3594 choriocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11764380 20080129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:10140 dry eye syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20508732 20140410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6843 MAP2K3 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17406030 20070824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7408 MT3 is_marker_for DOID:2468 psychotic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:18992145 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11742275 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4605 GRP is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:30146822 20230801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18432274 20140818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6066 INHBA is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:14663836 20090922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6066 INHBA is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:7852520 20090922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL is_marker_for DOID:2224 essential thrombocythemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11122159 20151211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24330766 20220826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15862159 20070801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:15249448 20140722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:18988662 20140722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24156266 20180920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22613426 20120824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26824417 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17071 KDM4C is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24224128 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15621212 20120305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19654941 20101110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:22499302 20120523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5975 IL13RA2 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21462799 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:28421993 20190926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:29979224 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:22490043 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16338763 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6842 MAP2K2 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26189368 20180719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:869 cholesteatoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1384343 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5253 HSP90AA1 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21417552 20151102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:1920 hyperuricemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23673972 20130604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080743 transverse myelitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20128675 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:7686390 20160803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17643278 20110408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:12941768 20090623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17953531 20090623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6066 INHBA is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:14993131 20230424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18479783 20150623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN is_marker_for DOID:8567 Hodgkin's lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12145210 20150112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5993 IL1R1 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24054991 20150618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24301648 20150618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31531 MIR144 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:25017274 20230126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28801286 20230412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3797 FOSB is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26581505 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19506087 20130118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18039 KDM5B is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18048344 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6005 IL21 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22948268 20210617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5237 HSPA4 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19350847 20120306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0050523 adult T-cell leukemia/lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10374863 20160420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23906036 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4317 GLI1 is_marker_for DOID:2512 nevoid basal cell carcinoma syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15308259 20170331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21546865 20120829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22906662 20120823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:987 alopecia ECO:0000270 expression pattern evidence used in manual assertion PMID:10827403 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:987 alopecia ECO:0000270 expression pattern evidence used in manual assertion PMID:24499417 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13342 KLRF1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5471 IGFBP2 is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:24106111 20150619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15865607 20141125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33690 MIR944 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28964576 20220831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5033 HNRNPA2B1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20604928 20150107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 is_marker_for DOID:10825 essential hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:24794206 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6309 KERA is_marker_for DOID:10126 keratoconus ECO:0000270 expression pattern evidence used in manual assertion PMID:11683372 20070307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:12714661 20150623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_marker_for DOID:557 kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15213271 20130521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10447463 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17943549 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31505 MIR125A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30257386 20200309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31505 MIR125A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29951066 20200309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:11078065 20140516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:20040038 20100913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11839635 20061110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4174 GATA6 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:23583651 20170822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22890997 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8599446 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19212416 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17697439 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14064 HDAC6 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23370327 20141203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24333691 20151215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33425 MIAT is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:30989723 20220927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:9408 acute myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:21238619 20230621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:5453 pulmonary venoocclusive disease ECO:0000270 expression pattern evidence used in manual assertion PMID:32209028 20200901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0080745 polymyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:11157561 20140227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18072261 20081001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:13129 severe pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:8476834 20231002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3796 FOS is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16049073 20130401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6839 MAP2 is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:20024519 20120514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:11335 sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17446058 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:14613274 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3613 FCGR1A is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:16670289 20150121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15451 GOLM1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21140449 20230922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19368923 20090609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:33116722 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB is_marker_for DOID:3121 gallbladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26318166 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4317 GLI1 is_marker_for DOID:5593 gastric papillary adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17259107 20210812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6250 KCNH1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17022810 20150212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:20595152 20100825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3665 FGF1 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8685603 20080707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29115464 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:17082220 20111017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4852 HDAC1 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23948281 20141202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27050373 20180420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20538962 20141125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24789592 20220525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:22370881 20220927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:19953283 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:23685192 20141119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6182 ITPR3 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:9790 toxocariasis ECO:0000270 expression pattern evidence used in manual assertion PMID:26732352 20190711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22491060 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:15620146 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18007 GLIPR2 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32663515 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7616276 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20624776 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:11476 osteoporosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19464221 20151007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11148 FSCN1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17696949 20100423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25038892 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4214 GDF1 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:24275554 20230413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18541 KMT2E is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16046540 20141030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9850082 20180926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:3179 inverted papilloma ECO:0000270 expression pattern evidence used in manual assertion PMID:12541477 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0050784 primary progressive multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14504963 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29722558 20221216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6236 KCNC4 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15485486 20151110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22176836 20220810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25173965 20220810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33247701 20230224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:0050852 limb ischemia ECO:0000270 expression pattern evidence used in manual assertion PMID:20816321 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29719061 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15980236 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6860 MAP3K8 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23533274 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6860 MAP3K8 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28393206 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23177 KEAP1 is_marker_for DOID:2797 idiopathic interstitial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:20718723 20120822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:8564 lip cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26723902 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16515971 20081031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18645275 20081031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:2527 nephrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22046528 20130218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25144570 20210127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11375345 20140711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:10726686 20190705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:14573732 20070322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_marker_for DOID:9255 frontotemporal dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:17639429 20111017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31378983 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6009 IL2RB is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32297828 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:4914 esophagus adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25562781 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4823 HBA1 is_marker_for DOID:1099 alpha thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:4044827 20160104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22459351 20180803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29081408 20180803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4390 GNAQ is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24518087 20210419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28886078 20200320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4642 GSTT2 is_marker_for DOID:10595 Charcot-Marie-Tooth disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22189569 20150130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:1475 lymphangioma ECO:0000270 expression pattern evidence used in manual assertion PMID:17584927 20140421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12974393 20090319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25030436 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:1168 familial hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16490430 20070829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_marker_for DOID:1289 neurodegenerative disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19000909 20111109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5212 HSD17B3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18180323 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:8506 bullous pemphigoid ECO:0000270 expression pattern evidence used in manual assertion PMID:1377725 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4552 GPT is_marker_for DOID:3571 liver cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22922605 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26403966 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20943460 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:0050782 Zollinger-Ellison syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15867218 20130423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20952683 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_marker_for DOID:14323 Marfan syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16820601 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31522 MIR136 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28710032 20220902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31522 MIR136 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29339925 20220902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:2526 prostate adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17491265 20080404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4171 GATA2 is_marker_for DOID:0111947 immunodeficiency 21 ECO:0000270 expression pattern evidence used in manual assertion PMID:21670465 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4272 GIT1 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15383276 20150129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:0060108 brain glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:33900414 20220307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31522 MIR136 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31059060 20220831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12488200 20100427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20028198 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:17550934 20110711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7060 MGP is_marker_for DOID:3304 germinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1399132 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:0080552 congenital disorder of glycosylation Ia ECO:0000270 expression pattern evidence used in manual assertion PMID:19207313 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11314805 20210308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19683480 20120306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3687 FGF9 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20464547 20220526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF is_marker_for DOID:9810 polyarteritis nodosa ECO:0000270 expression pattern evidence used in manual assertion PMID:9853108 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17888134 20100105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6367 KLK6 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16340244 20091201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:20595152 20100825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:10457 Legionnaires' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19073229 20170628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13178 IKZF3 is_marker_for DOID:0050685 small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24823637 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:15039646 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:0080745 polymyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:19953283 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:17220952 20070802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:11476 osteoporosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21376149 20110316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:16687443 20110906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5439 IFNGR1 is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29534057 20190923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15451 GOLM1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29181846 20230921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15363819 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9751409 20091209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8638 KAT2B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23643089 20141124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10608794 20101111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19238910 20121115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:1168 familial hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18788855 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:1168 familial hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:17869258 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:16406300 20061115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:19302182 20090619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31880 MIR423 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:32404537 20230320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24200674 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9886 KDM5A is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24200674 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16426918 20080602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33662 MIR665 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32269632 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_marker_for DOID:0050873 follicular lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17296585 20160819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4866 HEPH is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28990066 20221025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23057811 20141021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:8283 peritonitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26601826 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:2290165 20150618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 is_marker_for DOID:2559 opiate dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:14969742 20231211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14600787 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22027586 20190513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18447576 20150729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4554 GPX2 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18479189 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4214 GDF1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:36268984 20230412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6446 KRT8 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15368451 20190513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5154 HPGD is_marker_for DOID:0050589 inflammatory bowel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16195422 20120306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10216485 20080428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:23157389 20210519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33139 MIR766 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32048611 20220819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:22868384 20151016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:13450 coccidioidomycosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19083122 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3662 FGB is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:7974333 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20205697 20101108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33474835 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4238 GFI1B is_marker_for DOID:0070004 myeloid neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:19360458 20160308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:32595526 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:3492 mixed connective tissue disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19684145 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:23101722 20140818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16919984 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19629003 20100611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:7635566 20100611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6349 KLF5 is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:30201338 20230201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6206 JUND is_marker_for DOID:0050700 cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:30629164 20231117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23473966 20151027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:18606530 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16338763 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15266033 20130214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:11713 diabetic angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16338763 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:1532 pleural disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8325116 20100917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31497 MIR10A is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32997362 20220818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3798 FOSL2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25375657 20220818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14063 HDAC4 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:24086512 20141202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28677798 20190115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18321693 20090916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16610682 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF is_marker_for DOID:0060161 Kennedy's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10447463 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:17341625 20120316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30927737 20200330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29325325 20200330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29668922 20200330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6656 LNPEP is_marker_for DOID:8488 polyhydramnios ECO:0000270 expression pattern evidence used in manual assertion PMID:1789335 20090723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29882 ISCU is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:22840297 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:1474 aggressive periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28868949 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24191316 20160414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_marker_for DOID:409 liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28332201 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24859161 20230224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23151 FERMT3 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22391155 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_marker_for DOID:1996 rectum adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33174323 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30142 GDF15 is_marker_for DOID:2355 anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:25052873 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:0060669 cerebral cavernous malformation ECO:0000270 expression pattern evidence used in manual assertion PMID:11220380 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23079781 20220603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22089331 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5031 HNRNPA1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23633480 20150611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16412833 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:28843383 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:321 tropical spastic paraparesis ECO:0000270 expression pattern evidence used in manual assertion PMID:10464559 20140529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:22759859 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3796 FOS is_marker_for DOID:11870 Pick's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17548164 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7421 MT-CO2 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20660112 20180206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6293 KCNN4 is_marker_for DOID:0001816 angiosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27531900 20230717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26767034 20220414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33255360 20220414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10631206 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10543265 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33683 MIR940 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30710422 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10371349 20080404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22419013 20220826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7174 MMP7 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19596921 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26469968 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29615147 20200317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23872847 20141020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6263 KCNJ2 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:23543060 20130711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:10325 silicosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16858012 20101102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:21805023 20110927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:2987 familial mediterranean fever ECO:0000270 expression pattern evidence used in manual assertion PMID:21428190 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3685 FGF7 is_marker_for DOID:11132 prostatic hypertrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:11482780 20080121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4335 GLUD1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16341942 20120625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4335 GLUD1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16298240 20120625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6551 LEF1 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:27067790 20180124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:3491 Turner syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17067837 20170208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16919984 20110919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5381 IDE is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26963025 20181002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5381 IDE is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28164769 20181002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6224 KCNA5 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16258262 20150129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18363 IFNL1 is_marker_for DOID:321 tropical spastic paraparesis ECO:0000270 expression pattern evidence used in manual assertion PMID:29990995 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16982972 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3774 FMOD is_marker_for DOID:824 periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15196146 20091217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6009 IL2RB is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:29307521 20210310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:20004360 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:2942 bronchiolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:8608647 20100916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13345 LPIN1 is_marker_for DOID:11981 morbid obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17563064 20070823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4881 HEY2 is_marker_for DOID:264 hemangiopericytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26951238 20221110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9886 KDM5A is_marker_for DOID:986 alopecia areata ECO:0000270 expression pattern evidence used in manual assertion PMID:21936853 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17071 KDM4C is_marker_for DOID:986 alopecia areata ECO:0000270 expression pattern evidence used in manual assertion PMID:21936853 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20395558 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:15008956 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31562 MIR192 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26456596 20210203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3685 FGF7 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16006965 20080314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:4989 pancreatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:12923961 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:11213886 20130115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:8472 localized scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:12920362 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32164089 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32365221 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32297828 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32082 MIR493 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28537888 20181002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:1687 neovascular glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10509659 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:22840297 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:869 cholesteatoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19484988 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28070144 20190923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20876809 20170522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:7579412 20160120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6126 IRS2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18479783 20150623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25900027 20160714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:7949186 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_marker_for DOID:0050559 Fukuyama congenital muscular dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:11445638 20170109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20704821 20110329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29892003 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:0050523 adult T-cell leukemia/lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8704212 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19010635 20170622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_marker_for DOID:12802 mucopolysaccharidosis I ECO:0000270 expression pattern evidence used in manual assertion PMID:15128896 20170621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31880 MIR423 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:20185794 20230320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8255671 20170615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4544 GRK5 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17125886 20120229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4006 FUCA1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:7304074 20100118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6465 KSR1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24909178 20210603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 is_marker_for DOID:4074 pancreatic adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19513748 20190117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26581505 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:10459 common cold ECO:0000270 expression pattern evidence used in manual assertion PMID:7734976 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24241 LETMD1 is_marker_for DOID:363 uterine cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12879013 20091208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:15479272 20101215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_marker_for DOID:3904 bronchus carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10749130 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:9620 vesicoureteral reflux ECO:0000270 expression pattern evidence used in manual assertion PMID:23200959 20130606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7406 MT2A is_marker_for DOID:9669 senile cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:9804143 20151118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_marker_for DOID:11294 arteriovenous malformation ECO:0000270 expression pattern evidence used in manual assertion PMID:23051042 20221013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15767 FERMT2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22391155 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:9498 pulmonary eosinophilia ECO:0000270 expression pattern evidence used in manual assertion PMID:24706315 20160811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6169 ITIH4 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23436019 20210112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:4250 conjunctivochalasis ECO:0000270 expression pattern evidence used in manual assertion PMID:20019361 20140709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19558170 20140806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6656 LNPEP is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10508127 20091208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:22291810 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:17611614 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6005 IL21 is_marker_for DOID:12206 dengue hemorrhagic fever ECO:0000270 expression pattern evidence used in manual assertion PMID:24858204 20210617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26456596 20210203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32871 MIR615 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29471894 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6341 KISS1 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15592684 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:2799 bronchiolitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:17182591 20101116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4801 HADHA is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25260493 20150709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:0050523 adult T-cell leukemia/lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23797717 20200810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20819268 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31649 MIR98 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23322774 20220720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 is_marker_for DOID:3347 osteosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25503122 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3797 FOSB is_marker_for DOID:1596 depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:27494187 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19278051 20121029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14600787 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30314946 20230215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17194636 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:23883806 20130927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7639332 20100409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15710 LDB3 is_marker_for DOID:11722 myotonic dystrophy type 1 ECO:0000270 expression pattern evidence used in manual assertion PMID:24878509 20170309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:3049 Churg-Strauss syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22772323 20160728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18241672 20120305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:1037 lymphoid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8569275 20160414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:22711276 20141114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22101570 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15681497 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:9408 acute myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:31866771 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:9408 acute myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:32595526 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17898089 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10515411 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:11204 allergic conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22092652 20131017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:11204 allergic conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15144463 20131017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:28587864 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:12706940 20071010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:23708738 20151015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16873710 20081031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:15610510 20111017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32211850 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18370958 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:5031 adult pineal parenchymal tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:21696422 20120523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29441 KIF18A is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21213216 20161025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26942465 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6585 LHCGR is_marker_for DOID:3603 mucinous cystadenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11994539 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:38983 MIR3662 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28964576 20220831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12818091 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32053 MIR451A is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:25209900 20161216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6005 IL21 is_marker_for DOID:10608 celiac disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22077623 20210617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_marker_for DOID:0060901 lymphoplasmacytic lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23355206 20160823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32486357 20220606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31555 MIR184 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31874165 20220624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6065 INHA is_marker_for DOID:4441 dysgerminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11720904 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4163 GART is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9328467 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:1657 ventricular septal defect ECO:0000270 expression pattern evidence used in manual assertion PMID:21238444 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7175 MMP8 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18941201 20101130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:15730730 20101130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6551 LEF1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27067790 20180124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23177 KEAP1 is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:18559366 20120821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15914531 20090528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18832736 20120124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6859 MAP3K7 is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:27249171 20221230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5244 HSPA9 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17050040 20151027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:589 congenital hemolytic anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:947404 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:26248277 20180321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:12716 newborn respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:25879044 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:0080685 aortic dissection ECO:0000270 expression pattern evidence used in manual assertion PMID:30787994 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:0080685 aortic dissection ECO:0000270 expression pattern evidence used in manual assertion PMID:30900421 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:0080685 aortic dissection ECO:0000270 expression pattern evidence used in manual assertion PMID:28167124 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17643278 20110408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6974 MDM4 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23861893 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:12337 varicocele ECO:0000270 expression pattern evidence used in manual assertion PMID:15878918 20061126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:0080745 polymyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:20601655 20101206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12234996 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29072684 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4583 GRIK5 is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:9848088 20100215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6196 JARID2 is_marker_for DOID:1712 aortic valve stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18805276 20140924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:16613997 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6006 IL21R is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21281812 20120821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:9563 bronchiectasis ECO:0000270 expression pattern evidence used in manual assertion PMID:19725099 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24046070 20210722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6954 MCPH1 is_marker_for DOID:4451 renal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25197360 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3796 FOS is_marker_for DOID:1984 rectal benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:21975339 20170906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:11030 corneal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:7657553 20140108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6169 ITIH4 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24836184 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31591 MIR214 is_marker_for DOID:11294 arteriovenous malformation ECO:0000270 expression pattern evidence used in manual assertion PMID:23051042 20221013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:0080365 endometrial hyperplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:15228427 20090324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:0080933 immunoglobulin light chain amyloidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16164636 20130121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5210 HSD17B1 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10682658 20101222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31635 MIR34A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29328457 20190617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7161 MMP15 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9751409 20091209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6153 ITGB1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28537888 20181002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:5160 arteriosclerosis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:31173326 20230208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:3490 Noonan syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16263833 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 is_marker_for DOID:11206 opioid abuse ECO:0000270 expression pattern evidence used in manual assertion PMID:29766293 20231219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33875785 20210826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:631 fibromyalgia ECO:0000270 expression pattern evidence used in manual assertion PMID:10341365 20140407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20419098 20120511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18129 GHRL is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18809976 20130410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7408 MT3 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12417341 20120328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15681497 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26581505 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:3454 brain infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:16599837 20061115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17143501 20110412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22267590 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22293286 20120202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18552985 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31866771 20200221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:12768791 20160414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:7503375 20160414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22665336 20130219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11506395 20140602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:9206 Barrett's esophagus ECO:0000270 expression pattern evidence used in manual assertion PMID:23757351 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:0060643 primary sclerosing cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:30653586 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18062 GPT2 is_marker_for DOID:3571 liver cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22922605 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6361 KLK13 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19707197 20091201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_marker_for DOID:903 gastrointestinal lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26722499 20211118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:0080933 immunoglobulin light chain amyloidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16164636 20130121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7866999 20100408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6040 ILK is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15704679 20081030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6040 ILK is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18336616 20081030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:5425 ovarian hyperstimulation syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9322101 20160427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:4914 esophagus adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12234996 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18714364 20090325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:25968473 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:4033 bacterial gastritis ECO:0000270 expression pattern evidence used in manual assertion PMID:30535468 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31558 MIR187 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27542258 20190225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31759 MIR133B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30391496 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6341 KISS1 is_marker_for DOID:4085 trophoblastic neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:16757546 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:38983 MIR3662 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28964576 20220831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19453654 20101101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4458 GPI is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:6589021 20160412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18043994 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6490 LAMB3 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10964684 20181003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6029 IL9 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21062445 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:4031 eosinophilic gastroenteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:8608886 20160729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15741301 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20216542 20110331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11299820 20110304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7156 MMP10 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:11159210 20140709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6720 LTF is_marker_for DOID:0050589 inflammatory bowel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9791051 20130521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20944126 20130116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5975 IL13RA2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21462799 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3964 FSHB is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20651845 20200604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23787767 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24191316 20160414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3767 FLT4 is_marker_for DOID:3963 thyroid gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32626543 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16672002 20140710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15928662 20091209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 is_marker_for DOID:1697 ichthyosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24005053 20151113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:12732 intermediate uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21850175 20131001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17903 MED4 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19911042 20170508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:11612 polycystic ovary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15653207 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_marker_for DOID:0050920 tonsil squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30061236 20200805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_marker_for DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:25658420 20201102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10515411 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12547728 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18212746 20090325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:0111151 Prinzmetal angina ECO:0000270 expression pattern evidence used in manual assertion PMID:9415270 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16733206 20080314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17290 IL27RA is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:20705635 20110304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:11758895 20101117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18328894 20101117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:1596 depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:31396300 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_marker_for DOID:0050784 primary progressive multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20093204 20111109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18585501 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22753410 20151102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17071 KDM4C is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24418035 20141023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31577 MIR20A is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:29459010 20200501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30575330 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:8609369 20150622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:5679 retinal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21273540 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:7686390 20160803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10096042 20151008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17721818 20151008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31537 MIR150 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23758639 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:15254796 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16431135 20061127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6585 LHCGR is_marker_for DOID:2999 granulosa cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:11994539 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4172 GATA3 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:9949310 20110317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9886 KDM5A is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23794145 20141030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_marker_for DOID:0050847 sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:11896492 20110322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5468 IGFALS is_marker_for DOID:0060870 isolated growth hormone deficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:11248743 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16217293 20080602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:23160513 20230206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32792 MIR411 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30086881 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31632 MIR320A is_marker_for DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:28684747 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:0080356 IgG4-related disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26375328 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:12704 ataxia telangiectasia ECO:0000270 expression pattern evidence used in manual assertion PMID:26851119 20170306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18720262 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14984938 20080310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_marker_for DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ECO:0000270 expression pattern evidence used in manual assertion PMID:19649643 20111101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7549793 20080707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4708 GZMA is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20047264 20110726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28055013 20230224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:21126355 20121023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:2696 Leydig cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:14517422 20081003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5439 IFNGR1 is_marker_for DOID:824 periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20655098 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24292748 20200805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4458 GPI is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:6589021 20160412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32875 MIR619 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:35034245 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32340 MIR483 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23758639 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:19811272 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29788741 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:18775662 20151027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:9408 acute myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:31866771 20200221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19250272 20131015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:2987 familial mediterranean fever ECO:0000270 expression pattern evidence used in manual assertion PMID:22384525 20120425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6024 IL7R is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:26155428 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24816922 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28338007 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30280776 20210519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32534 MIR542 is_marker_for DOID:7305 astroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26286747 20180816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:41674 MIR4458 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32449803 20220902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4852 HDAC1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23724067 20141119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_marker_for DOID:11713 diabetic angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:12477149 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6839 MAP2 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20092829 20120514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF is_marker_for DOID:3049 Churg-Strauss syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9853108 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:10754 otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:20926702 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6017 IL5RA is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16734609 20110314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:8562031 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 is_marker_for DOID:3596 placental site trophoblastic tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:20868507 20230412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31577 MIR20A is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:29115456 20200501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26045670 20211008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31868 MIR375 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24718681 20210527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18936159 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:24102912 20230929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15967097 20080313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29079 KDM1A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23236241 20141126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:23339529 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:5389 oxyphilic adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15780567 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24716741 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21375368 20111017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4045 FZD7 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12057921 20100714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:1588 thrombocytopenia ECO:0000270 expression pattern evidence used in manual assertion PMID:25128199 20160401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18254781 20080602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11426023 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0050827 rheumatic heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16406300 20061115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5423 IFNA2 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:24983321 20200310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:12895 keratoconjunctivitis sicca ECO:0000270 expression pattern evidence used in manual assertion PMID:10487957 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31629 MIR30E is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30816508 20230925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4317 GLI1 is_marker_for DOID:6595 gastric tubular adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17259107 20210812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4136 GAMT is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:31991880 20230720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31645 MIR93 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28592130 20191217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31645 MIR93 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27298561 20191217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:31118273 20200430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:17690696 20160823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:21707574 20160823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31635 MIR34A is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27077736 20190627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:9637721 20110104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:20074784 20180816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4620 GSN is_marker_for DOID:9159 gas gangrene ECO:0000270 expression pattern evidence used in manual assertion PMID:9142022 20230426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6367 KLK6 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12970725 20091201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15451 GOLM1 is_marker_for DOID:11476 osteoporosis ECO:0000270 expression pattern evidence used in manual assertion PMID:30396165 20230921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23321917 20130828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:12689 acoustic neuroma ECO:0000270 expression pattern evidence used in manual assertion PMID:21788435 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_marker_for DOID:824 periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28285126 20181026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19842845 20100913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26785 HNF1A-AS1 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32325080 20211231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6872 MAPK10 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11208906 20151120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28319306 20210923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18039 KDM5B is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20226085 20141017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14063 HDAC4 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23948281 20141202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22978 KDM4A is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22120715 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:17198913 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11162628 20151105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6059 IDO1 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:32369456 20201027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21163 MDC1 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21853275 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_marker_for DOID:874 bacterial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:11269653 20110419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_marker_for DOID:0080375 gastroesophageal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25429911 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18798553 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5208 HSD11B1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23009206 20230628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:4914 esophagus adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26481465 20210204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:820 myocarditis ECO:0000270 expression pattern evidence used in manual assertion PMID:9556870 20180724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:17553896 20201109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:4905 pancreatic carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28660759 20200330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32481602 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26490982 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3767 FLT4 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21865112 20140421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31632 MIR320A is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25728840 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31592 MIR215 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:28573541 20180817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21169467 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26503415 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:8568 infectious mononucleosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33571934 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31547 MIR17 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:23718138 20230502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:869 cholesteatoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15267172 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16644101 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19927353 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:30099220 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26432329 20211026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:9778 irritable bowel syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23172891 20201030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26535066 20211026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:25658420 20201102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33408517 20210406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:8567 Hodgkin's lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21466366 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15053202 20110104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:19825784 20100913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11705862 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:12823854 20150903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32919 MIR663A is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24523440 20180816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:3042 allergic contact dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:7876550 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16088202 20111116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22638884 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:36583727 20230922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 is_marker_for DOID:14557 primary pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:23972212 20230519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3821 FOXO3 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19435720 20151019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B is_marker_for DOID:90 degenerative disc disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29393545 20180925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29477012 20190923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:45049 HEIH is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32449803 20220902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28859 HILPDA is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23916472 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:3087 gingivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19186972 20090609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6017 IL5RA is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:10224351 20110314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:2755 Mycobacterium avium complex disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22033195 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5988 IL18R1 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15308504 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4115 GALC is_marker_for DOID:11949 Creutzfeldt-Jakob disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30009661 20200911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12404291 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31579 MIR200B is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27685844 20190917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26549033 20220215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31616 MIR29A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23285022 20191211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3686 FGF8 is_marker_for DOID:11132 prostatic hypertrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:10343609 20080129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18713300 20090626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:11463601 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_marker_for DOID:11166 Human papillomavirus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30935248 20201014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:1094 attention deficit hyperactivity disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:24633733 20170721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5044 HNRNPK is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19401687 20150805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6341 KISS1 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18005407 20081124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4845 HCN1 is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:12890777 20150203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29069277 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:4033 bacterial gastritis ECO:0000270 expression pattern evidence used in manual assertion PMID:24718681 20210527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:22410570 20170314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33929 MIR1233-1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:25017274 20230125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:9521 Laron syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21054577 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19605646 20170131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:48571 LINC00885 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33603486 20220718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19309 KANK1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12133830 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16080559 20090326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 is_marker_for DOID:14557 primary pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:23972212 20230519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16982 MFHAS1 is_marker_for DOID:4415 fibrous histiocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9973190 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:4195 hyperglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18211631 20090623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:34274946 20230622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31577 MIR20A is_marker_for DOID:1993 rectum cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30277504 20200501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:4033 bacterial gastritis ECO:0000270 expression pattern evidence used in manual assertion PMID:24633341 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:27289031 20191204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21086571 20200824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6623 LIPG is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16772345 20070822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15345916 20140523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18938767 20120124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:12849 autistic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:26418275 20170313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6843 MAP2K3 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24233520 20131213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 is_marker_for DOID:820 myocarditis ECO:0000270 expression pattern evidence used in manual assertion PMID:9556870 20180724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:13129 severe pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:31487655 20221013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:14744773 20080312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:10590 mild pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:8476834 20231002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:11265 trachoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21911461 20140818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15194590 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5975 IL13RA2 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18362439 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5974 IL13RA1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20808962 20110225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:16750036 20120209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6845 MAP2K5 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12618764 20080724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:19734590 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18155780 20111013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21106039 20111102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16109314 20070813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15213623 20100611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16463672 20100611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17259 LSM4 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33381146 20230123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5471 IGFBP2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18479783 20150623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11311965 20100106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31541 MIR154 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32214824 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31604 MIR224 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23322774 20220720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31604 MIR224 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25919696 20220720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25230694 20210712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3800 FOXC1 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21424368 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13861 LZTS1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18686028 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21658006 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9891472 20080403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26110613 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24685003 20151026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19738511 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_marker_for DOID:13481 thanatophoric dysplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:9302269 20161206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:10456 tonsillitis ECO:0000270 expression pattern evidence used in manual assertion PMID:27738609 20170209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31579 MIR200B is_marker_for DOID:0060643 primary sclerosing cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28634212 20190916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:10408538 20170724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15905 L3MBTL1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21837478 20141031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6365 KLK4 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15262123 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15698596 20230728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4235 GFAP is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32546655 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4235 GFAP is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:33743046 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4171 GATA2 is_marker_for DOID:12449 aplastic anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11328281 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31841247 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:9111 cutaneous leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:29205403 20200806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:8869 neuromyelitis optica ECO:0000270 expression pattern evidence used in manual assertion PMID:21621856 20140227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6029 IL9 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_marker_for DOID:11206 opioid abuse ECO:0000270 expression pattern evidence used in manual assertion PMID:29766293 20231219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF is_marker_for DOID:12842 Guillain-Barre syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9853108 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6017 IL5RA is_marker_for DOID:350 mastocytosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21762978 20160801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:11476 osteoporosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19411568 20110404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16820601 20190122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3609 FCER1A is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20650300 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4241 GFPT1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17574229 20090918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:11111 hydronephrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21279810 20130618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_marker_for DOID:13189 gout ECO:0000270 expression pattern evidence used in manual assertion PMID:7702412 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5112 HOXB13 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15583692 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:2055 post-traumatic stress disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:21714072 20110826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:26385087 20200117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:32014817 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:18437152 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24334724 20181018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_marker_for DOID:8483 retinal artery occlusion ECO:0000270 expression pattern evidence used in manual assertion PMID:9736419 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:6543 acne ECO:0000270 expression pattern evidence used in manual assertion PMID:23924903 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19411612 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31879 MIR422A is_marker_for DOID:1781 thyroid cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28938536 20180927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:18074478 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:20980160 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14458 GAB2 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22858987 20180713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4494 GPR37 is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:14991825 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_marker_for DOID:0060108 brain glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:23510544 20220330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 is_marker_for DOID:2870 endometrial adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14760076 20180806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3774 FMOD is_marker_for DOID:3087 gingivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15196146 20091217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19629755 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:11162 respiratory failure ECO:0000270 expression pattern evidence used in manual assertion PMID:19357034 20101206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31604 MIR224 is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25386083 20200110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 is_marker_for DOID:13223 uterine fibroid ECO:0000270 expression pattern evidence used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31396300 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4880 HEY1 is_marker_for DOID:264 hemangiopericytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26951238 20221110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:0050700 cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16681691 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32682784 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21839130 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17034947 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16901349 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20186929 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31599 MIR22 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28211508 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28776569 20220217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:11650 bronchopulmonary dysplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:15539764 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19014607 20090326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 is_marker_for DOID:2129 atypical teratoid rhabdoid tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:23530909 20230411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:29137225 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32360286 20200618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18212746 20090325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:7152485 20150504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:285 hairy cell leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:9613675 20160808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0050697 chorioamnionitis ECO:0000270 expression pattern evidence used in manual assertion PMID:12712078 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7060 MGP is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1399132 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 is_marker_for DOID:3963 thyroid gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16728577 20220427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18714364 20090325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21871427 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15807307 20080602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:30783439 20230223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:10731862 20110419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_marker_for DOID:2600 laryngeal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25633166 20220215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:12306 vitiligo ECO:0000270 expression pattern evidence used in manual assertion PMID:22342018 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17387270 20090325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20662906 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:10374894 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20464042 20140303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31868 MIR375 is_marker_for DOID:4033 bacterial gastritis ECO:0000270 expression pattern evidence used in manual assertion PMID:24718681 20210527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3694 FGG is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:7974333 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21658006 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29199150 20220908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6880 MAPK7 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18071319 20080724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_marker_for DOID:8649 tongue cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30061236 20200805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16093869 20151110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31614 MIR27B is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26623719 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21613335 20111031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:22230487 20120201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:9640197 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4852 HDAC1 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20037577 20141113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15448002 20100412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21471098 20110801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:13148 acute cystitis ECO:0000270 expression pattern evidence used in manual assertion PMID:25398327 20210408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6917 MBD2 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20937307 20141103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 is_marker_for DOID:4074 pancreatic adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24395444 20210826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6866 MAP4K4 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:21196414 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29630104 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:19004037 20170209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:12554 hemolytic-uremic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9802632 20121109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25840 KDM8 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20457893 20141021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6023 IL7 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21159243 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_marker_for DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:21859801 20151030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4494 GPR37 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14991825 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31537 MIR150 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30205391 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:1115 sarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15823121 20081031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19571666 20100323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:6039 uveal melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23197685 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21047775 20130423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6656 LNPEP is_marker_for DOID:13129 severe pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:24331737 20230524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18834676 20090928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31577 MIR20A is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26781875 20200507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31605 MIR23A is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:31321740 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6551 LEF1 is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28677753 20180917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:11294 arteriovenous malformation ECO:0000270 expression pattern evidence used in manual assertion PMID:16720380 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:7750009 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16672002 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_marker_for DOID:3347 osteosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25503122 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4006 FUCA1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16176171 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:4079 heart valve disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24093773 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6065 INHA is_marker_for DOID:3308 embryonal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11720904 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31637 MIR34C is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21558425 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:29349567 20200323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19196818 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:25048004 20181018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18802068 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:22207524 20180718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31552 MIR181C is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31114379 20191217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:37 skin disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21357384 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29899555 20220216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_marker_for DOID:0080365 endometrial hyperplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:12635138 20081030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10417663 20111118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4852 HDAC1 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15042618 20090326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:20004360 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:23288172 20140808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22035391 20120201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24004859 20181005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9833 MOK is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15900605 20130510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:2213757 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32853 MIR597 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31245295 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24241 LETMD1 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12879013 20150729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:2048 autoimmune hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29420849 20200324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18039 KDM5B is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22534467 20141017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:11077 brucellosis ECO:0000270 expression pattern evidence used in manual assertion PMID:27916101 20190923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6954 MCPH1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23472065 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17997340 20090619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9018118 20080930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24200674 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13178 IKZF3 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24823637 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8532703 20140514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:2355 anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:9635949 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:11877705 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:8481 rheumatic myocarditis ECO:0000270 expression pattern evidence used in manual assertion PMID:22987107 20180724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3818 FOXM1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25482013 20220217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5975 IL13RA2 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21462799 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23401127 20170718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:9724118 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7413 MTAP is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15534104 20100503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7371 MSLN is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17019794 20100618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:26502942 20230718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:17198913 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:11527649 20130208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16820601 20190122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:2280 hidradenitis suppurativa ECO:0000270 expression pattern evidence used in manual assertion PMID:28256718 20210416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17189873 20070813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:0080745 polymyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:8952317 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8012802 20151005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:14562121 20200805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12771991 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:9497936 20150707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4556 GPX4 is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20685819 20231003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1718278 20080307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6358 KLK10 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:12788170 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:32042813 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5423 IFNA2 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30602382 20200310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3685 FGF7 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18566572 20080926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_marker_for DOID:11713 diabetic angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:21411989 20130416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:0050827 rheumatic heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16406300 20061129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18340362 20111102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6563 LGALS3 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:35115644 20220214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28886078 20200320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3702 FHL1 is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11583900 20061109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:21080339 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6843 MAP2K3 is_marker_for DOID:916 liver benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:24233520 20131213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:37731513 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31517 MIR133A1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30086463 20220819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22398717 20121128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4709 GZMB is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20540777 20110726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:26125439 20220830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:255 hemangioma ECO:0000270 expression pattern evidence used in manual assertion PMID:19821096 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_marker_for DOID:3078 anaplastic astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19179066 20180720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4171 GATA2 is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12145700 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:32239566 20230206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8333775 20100914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:12062341 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:16953110 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31530 MIR143 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32104069 20220722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24241 LETMD1 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12879013 20150729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6153 ITGB1 is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21063403 20181002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6153 ITGB1 is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12168902 20181002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A is_marker_for DOID:0050741 alcohol dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:22176604 20231113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6059 IDO1 is_marker_for DOID:11263 chlamydia ECO:0000270 expression pattern evidence used in manual assertion PMID:30832593 20200807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:11159210 20140709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4567 GRB7 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10797316 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16697074 20210514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21481963 20210514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19302703 20090326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:11294 arteriovenous malformation ECO:0000270 expression pattern evidence used in manual assertion PMID:23051042 20221013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:21110900 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10206308 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15463872 20101116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15625284 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6065 INHA is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11720904 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:7974333 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17401618 20151030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18668363 20140207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:6713 cerebrovascular disease ECO:0000270 expression pattern evidence used in manual assertion PMID:34869693 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6445 KRT7 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29788741 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5358 IRF8 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28592884 20230711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:11758471 20140630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_marker_for DOID:8632 Kaposi's sarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18804962 20221202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20433758 20211118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:1574 alcohol use disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:30277635 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:19889595 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4175 GATM is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:31991880 20230720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9748519 20151015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_marker_for DOID:0050474 Netherton syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16601670 20111017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3766 FLT3LG is_marker_for DOID:4971 myelofibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21487043 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31517 MIR133A1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25728840 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_marker_for DOID:1781 thyroid cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28992617 20180924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_marker_for DOID:680 tauopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:22874558 20140207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9886 KDM5A is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23266085 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9469274 20170209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6934 MCAM is_marker_for DOID:6039 uveal melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19958117 20130926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8562934 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31500 MIR1-2 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25728840 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6112 IRAK1 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:23018031 20131212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21103916 20121204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5244 HSPA9 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16565515 20120802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13315 HDAC8 is_marker_for DOID:10487 Hirschsprung's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16771768 20170817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_marker_for DOID:363 uterine cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:13678974 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:104 bacterial infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21574159 20110826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:290 GRK3 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:22685168 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0002116 pterygium ECO:0000270 expression pattern evidence used in manual assertion PMID:19420332 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4847 HCRT is_marker_for DOID:8986 narcolepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:10973318 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23357299 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15619210 20100405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:12351 alcoholic hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:1347281 20190523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21427211 20110906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3969 FSHR is_marker_for DOID:2999 granulosa cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:11994539 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22419013 20220826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26677064 20180219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:28843383 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:0111079 birdshot chorioretinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:21570674 20110826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5994 IL1R2 is_marker_for DOID:1474 aggressive periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18315432 20140626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_marker_for DOID:1761 Melkersson-Rosenthal syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:32045706 20230919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10606363 20070802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:32630589 20230922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12940780 20080404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20026745 20101206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31494 MIR106A is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25553963 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4620 GSN is_marker_for DOID:8481 rheumatic myocarditis ECO:0000270 expression pattern evidence used in manual assertion PMID:25403731 20230426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:750 peptic ulcer disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21791025 20210423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_marker_for DOID:6812 childhood pilocytic astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21466243 20180720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29079 KDM1A is_marker_for DOID:986 alopecia areata ECO:0000270 expression pattern evidence used in manual assertion PMID:21936853 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:0060060 non-Hodgkin lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7686390 20160803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:3458 breast adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9811352 20090324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:12662 paracoccidioidomycosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28992214 20201014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:25746970 20201016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16360363 20070802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9631454 20101130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5118 HOXB7 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17018609 20151019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 is_marker_for DOID:874 bacterial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:24465168 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8568 FURIN is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15756593 20061115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:15620146 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21122381 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3678 FGF21 is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22494291 20151012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:24581833 20151006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3686 FGF8 is_marker_for DOID:1911 endodermal sinus tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:11764380 20080129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6040 ILK is_marker_for DOID:2526 prostate adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11448915 20081030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6128 IRS4 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33894221 20220208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:21987499 20141121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5987 IL18BP is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20026745 20101206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4243 GFRA1 is_marker_for DOID:3049 Churg-Strauss syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9853108 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_marker_for DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23178689 20180510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25301737 20211231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22660635 20221117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5417 IFNA1 is_marker_for DOID:5052 melioidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28435890 20200728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18978347 20090623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12576459 20110103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6838 MAP1LC3A is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:25209900 20161216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:1070 primary open angle glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22335808 20140718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15547537 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15887294 20170623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17696935 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14068 HDAC5 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:22711276 20141114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26958084 20200207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17466450 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20335295 20110331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:11400 pyelonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:8640042 20121101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7175 MMP8 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14602136 20090319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6345 KLF1 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19097174 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5237 HSPA4 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22047640 20120306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3798 FOSL2 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22419013 20220826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:49598 LINC01198 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27764782 20190121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:676 juvenile rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:9489833 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:11335 sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17015003 20101208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4637 GSTM5 is_marker_for DOID:13223 uterine fibroid ECO:0000270 expression pattern evidence used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5978 IL15RA is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6023 IL7 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13718 FOSL1 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22419013 20220826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33042830 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3663 FGD1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19141649 20161019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:1115 sarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7693339 20100408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:3904 bronchus carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8030748 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3818 FOXM1 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24859161 20230224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15955140 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32079 MIR146B is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:29374012 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_marker_for DOID:8725 vascular dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:15211075 20111110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6144 ITGA8 is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18277079 20130903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19139294 20090609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5238 HSPA5 is_marker_for DOID:0050589 inflammatory bowel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21864296 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19332626 20140717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31625 MIR30B is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24293274 20170913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_marker_for DOID:14067 Plasmodium falciparum malaria ECO:0000270 expression pattern evidence used in manual assertion PMID:21985368 20111216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4554 GPX2 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21163 MDC1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17546051 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6182 ITPR3 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:1040 chronic lymphocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:29658610 20200225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30015946 20200204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:34887365 20230328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29012 KDM6B is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23152497 20141021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18076934 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6585 LHCGR is_marker_for DOID:3114 serous cystadenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11994539 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:11758 iron deficiency anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:25097522 20160414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19233 FUT11 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:37483811 20231103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26655272 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16651 MRPL45 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33381146 20230123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3796 FOS is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8264230 20170906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_marker_for DOID:9733 renal tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21251883 20130118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17512313 20070829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:0080552 congenital disorder of glycosylation Ia ECO:0000270 expression pattern evidence used in manual assertion PMID:19207313 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16413376 20080314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:9065 leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:2145107 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21824468 20120306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:9477 pulmonary embolism ECO:0000270 expression pattern evidence used in manual assertion PMID:19566548 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:8691 mycosis fungoides ECO:0000270 expression pattern evidence used in manual assertion PMID:24127318 20140806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:20798258 20121009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31550 MIR181B1 is_marker_for DOID:3963 thyroid gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16728577 20220427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3819 FOXO1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:16952980 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7153 MMD is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:31684818 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31778 MIR342 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23758639 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_marker_for DOID:0050847 sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:16983050 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4270 GIP is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:19375579 20090824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:4195 hyperglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18608123 20090609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16098919 20091002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20628202 20110321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:33749307 20230619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_marker_for DOID:1040 chronic lymphocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:29658610 20200225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6860 MAP3K8 is_marker_for DOID:13208 background diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:28724746 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6972 MDK is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15734764 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21447133 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25761858 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:21131591 20160317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:635 acquired immunodeficiency syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11232005 20111116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9119882 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17377415 20100608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31480 MIRLET7C is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22289550 20190628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21875409 20150825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19352211 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:8463 corneal ulcer ECO:0000270 expression pattern evidence used in manual assertion PMID:12714388 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31762 MIR151A is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28211508 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30177394 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:8725 vascular dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:16600299 20070814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18299691 20090928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6181 ITPR2 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:12619876 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0111563 Sturge-Weber syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23720035 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6445 KRT7 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19260470 20100326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:14747618 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4588 GRIN2D is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:19856012 20100615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:14018 alcoholic liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24619965 20151106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5253 HSP90AA1 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16774932 20220810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4510 KISS1R is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17164231 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:0080333 aortic valve disease 1 ECO:0000270 expression pattern evidence used in manual assertion PMID:23969418 20170309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:2316 brain ischemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16305645 20101118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6720 LTF is_marker_for DOID:65 connective tissue disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8296641 20130521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13718 FOSL1 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15514944 20080612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31660637 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21679057 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:22490043 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:22773904 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6005 IL21 is_marker_for DOID:321 tropical spastic paraparesis ECO:0000270 expression pattern evidence used in manual assertion PMID:28378248 20210622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4796 HAAO is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:21036897 20180308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15337312 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:35799735 20221014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10530564 20080218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21613335 20111031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31509 MIR127 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27645894 20220615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16619570 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7105 MITF is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15103749 20170718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3686 FGF8 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10023681 20080129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:3044 food allergy ECO:0000270 expression pattern evidence used in manual assertion PMID:22077487 20120201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6023 IL7 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22571981 20151103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_marker_for DOID:676 juvenile rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:8255671 20170615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:11247331 20111118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31501 MIR122 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25472877 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31577 MIR20A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30623908 20200430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_marker_for DOID:557 kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23547217 20130604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:6039 uveal melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21984395 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:1474 aggressive periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21730256 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:15181041 20070802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6656 LNPEP is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7446622 20091208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4238 GFI1B is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19360458 20160308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5988 IL18R1 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14641797 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:29522949 20230328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18359638 20140523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21455110 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5468 IGFALS is_marker_for DOID:0080552 congenital disorder of glycosylation Ia ECO:0000270 expression pattern evidence used in manual assertion PMID:19207313 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16801669 20061130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21806828 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13590 FBXO11 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29518611 20220502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10873295 20130208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_marker_for DOID:0060041 autism spectrum disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:26691363 20170331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3801 FOXC2 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:16952980 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_marker_for DOID:3565 meningioma ECO:0000270 expression pattern evidence used in manual assertion PMID:26240495 20221013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:35799735 20221014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12100031 20200218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3659 FEZ1 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:16510495 20170216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27685844 20190917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5008 HMGCS2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28867541 20191007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:1580 diffuse scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:9034992 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22978 KDM4A is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24802408 20141014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8390684 20170518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15693089 20061102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:12554 hemolytic-uremic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:6218601 20070803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_marker_for DOID:11870 Pick's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11880199 20111103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27685844 20190917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19796283 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12028 HSP90B1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23374247 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:331 central nervous system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12100369 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26785 HNF1A-AS1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26472090 20211231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18329693 20150729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32083 MIR432 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26942465 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1337 KDM3B is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23266085 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:21788435 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5474 IGFBP5 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15681824 20070712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4270 GIP is_marker_for DOID:11612 polycystic ovary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19375579 20090824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32087 MIR193B is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29226653 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4620 GSN is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:24239294 20230427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:24786088 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18353734 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:13375 temporal arteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22993227 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:0060688 arteriovenous malformations of the brain ECO:0000270 expression pattern evidence used in manual assertion PMID:11220380 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22978 KDM4A is_marker_for DOID:986 alopecia areata ECO:0000270 expression pattern evidence used in manual assertion PMID:21936853 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:19566894 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20508993 20111129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31870 MIR377 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27874949 20180103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14511253 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:9563 bronchiectasis ECO:0000270 expression pattern evidence used in manual assertion PMID:10515411 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18585516 20230823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23449350 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25498 KDM4D is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24219278 20141029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 is_marker_for DOID:9408 acute myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:36523365 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 is_marker_for DOID:9408 acute myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:32595526 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:0050745 diffuse large B-cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12598355 20160802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:1712 aortic valve stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24626394 20221011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4605 GRP is_marker_for DOID:6713 cerebrovascular disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30146822 20230801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19556641 20100914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:22159761 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20858153 20101222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:28931657 20200318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30597305 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:35252 MIR1271 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26477861 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4114 GAL is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16060906 20091013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18312938 20130823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:5041 esophageal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29660336 20200324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23787767 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22536438 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19796283 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12664314 20151029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20805994 20120419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:3571 liver cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30610790 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17178334 20101215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:1067 open-angle glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21834929 20110829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:12205 dengue disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26941580 20210201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29441 KIF18A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27215532 20161025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14900 IL22 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21535180 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:962 neurofibroma ECO:0000270 expression pattern evidence used in manual assertion PMID:7692836 20170622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27777637 20220708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13765 IL25 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:23657503 20201217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6842 MAP2K2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33553243 20211210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31129965 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6720 LTF is_marker_for DOID:13689 prostate calculus ECO:0000270 expression pattern evidence used in manual assertion PMID:19202053 20130502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_marker_for DOID:83 cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:17062942 20140717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:3042 allergic contact dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:7876550 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5974 IL13RA1 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:14527737 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:20836084 20110329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6371 KLKB1 is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:2173275 20130912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6842 MAP2K2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10216485 20080428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_marker_for DOID:3963 thyroid gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16728577 20220427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5118 HOXB7 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22911672 20151019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28411881 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31635 MIR34A is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27046304 20190627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4243 GFRA1 is_marker_for DOID:9810 polyarteritis nodosa ECO:0000270 expression pattern evidence used in manual assertion PMID:9853108 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31496 MIR107 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30280776 20210519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5022 FOXA2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26658322 20220406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6393 KIF2C is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18506187 20200602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6169 ITIH4 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29636444 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25433 MFSD4A is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3766 FLT3LG is_marker_for DOID:13636 Fanconi anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:7492765 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:12716 newborn respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18301921 20101101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:13025 retinopathy of prematurity ECO:0000270 expression pattern evidence used in manual assertion PMID:19700197 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16186340 20091002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17320450 20130123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11163834 20081014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR is_marker_for DOID:9521 Laron syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:25196842 20161129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4040 FZD2 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15492823 20080715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:1580 diffuse scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:19886888 20140415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:9743 diabetic neuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17194636 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:11778537 20070608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28972962 20180122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:874 bacterial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:19535150 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:676 juvenile rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21859687 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24939880 20210423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6633 LMCD1 is_marker_for DOID:4248 coronary stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:32160773 20230413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20017454 20100429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:0060901 lymphoplasmacytic lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32763516 20230928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3798 FOSL2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:34111459 20220826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:21034646 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3687 FGF9 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28440022 20220520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7371 MSLN is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19818733 20100618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 is_marker_for DOID:12297 Vogt-Koyanagi-Harada disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21297967 20120417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11851621 20091208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16759302 20091001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:25303482 20230707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:0050625 biliary tract benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:12819026 20100429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16196283 20101103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32342 MIR486-1 is_marker_for DOID:11294 arteriovenous malformation ECO:0000270 expression pattern evidence used in manual assertion PMID:23051042 20221013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20713898 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17243165 20090319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5990 IL19 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18246602 20110303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:23359500 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:21241374 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:0080038 pycnodysostosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11474477 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31605 MIR23A is_marker_for DOID:14557 primary pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:25815108 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:1754 mitral valve stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16155388 20061208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6333 KIR2DS1 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:17553896 20201109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21163 MDC1 is_marker_for DOID:3905 lung carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17546051 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:13812 adhesions of uterus ECO:0000270 expression pattern evidence used in manual assertion PMID:31596310 20210514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6240 KCNE1 is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15389592 20130425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4174 GATA6 is_marker_for DOID:9206 Barrett's esophagus ECO:0000270 expression pattern evidence used in manual assertion PMID:25445407 20170822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4852 HDAC1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16172792 20090325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6866 MAP4K4 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33510968 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4079 GABRA5 is_marker_for DOID:12849 autistic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:20066485 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 is_marker_for DOID:8544 chronic fatigue syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:26615570 20191112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 is_marker_for DOID:8584 Burkitt lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27991481 20210129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_marker_for DOID:11446 sciatic neuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15509515 20111110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29183007 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31624 MIR30A is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29587268 20200710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:321 tropical spastic paraparesis ECO:0000270 expression pattern evidence used in manual assertion PMID:24041428 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12626459 20140225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31619 MIR29B1 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:34887365 20230328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31514 MIR130A is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:24801815 20160428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4227 GDI2 is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11771757 20170818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31604 MIR224 is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25919696 20190426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5237 HSPA4 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22297444 20120305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27777637 20220708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 is_marker_for DOID:13641 exfoliation syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21740868 20131029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5035 HNRNPC is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18508286 20150805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10644865 20130123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:12115353 20140314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5031 HNRNPA1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22628224 20150410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_marker_for DOID:9008 psoriatic arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22480318 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_marker_for DOID:3571 liver cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27788478 20200110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:0050120 hemophagocytic lymphohistiocytosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20472718 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:8566 herpes simplex ECO:0000270 expression pattern evidence used in manual assertion PMID:26872602 20201019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21107132 20111031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5112 HOXB13 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15756448 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7175 MMP8 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16820601 20190122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6059 IDO1 is_marker_for DOID:9123 eczema herpeticum ECO:0000270 expression pattern evidence used in manual assertion PMID:26198597 20201020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:12054124 20090528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:24450480 20151029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6859 MAP3K7 is_marker_for DOID:11520 benign hypertensive renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:34584221 20221219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:633 myositis ECO:0000270 expression pattern evidence used in manual assertion PMID:16968394 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18715875 20110405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29235098 20191213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_marker_for DOID:11162 respiratory failure ECO:0000270 expression pattern evidence used in manual assertion PMID:20003352 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8638 KAT2B is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:36104638 20230104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:83 cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:19491954 20140508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16052530 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11917281 20100913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_marker_for DOID:3121 gallbladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26925680 20190827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:639 acute disseminated encephalomyelitis ECO:0000270 expression pattern evidence used in manual assertion PMID:11063842 20140203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18437 HAVCR2 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21382414 20110726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:8646429 20151019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17633921 20081030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16879250 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5360 ID1 is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28990066 20221025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3665 FGF1 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16139411 20080304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6656 LNPEP is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:11701721 20090723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30469315 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL is_marker_for DOID:1070 primary open angle glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22974818 20230901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:12662 paracoccidioidomycosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33771629 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29723452 20200204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:888 KIF1A is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:26451909 20170710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:27601054 20230824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28990066 20221025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:34111459 20220826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18039 KDM5B is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:25450384 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14727452 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16820601 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12560388 20080220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12209760 20140521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_marker_for DOID:7147 ankylosing spondylitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26339141 20170309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_marker_for DOID:10230 aortic atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31043075 20230418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15317323 20140521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_marker_for DOID:9123 eczema herpeticum ECO:0000270 expression pattern evidence used in manual assertion PMID:21458658 20140205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32901 MIR645 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28504690 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4861 HELLS is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:28042322 20180718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22802947 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_marker_for DOID:0050745 diffuse large B-cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20919850 20120524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_marker_for DOID:2987 familial mediterranean fever ECO:0000270 expression pattern evidence used in manual assertion PMID:20124324 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4237 GFI1 is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18371060 20160308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6341 KISS1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12547718 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17323858 20101210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15934281 20101210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15780567 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_marker_for DOID:0050771 pheochromocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20937862 20161214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_marker_for DOID:14261 fragile X syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:25466251 20170718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:25317080 20160310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9669810 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30131089 20200204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:27411924 20220527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11034943 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31566 MIR195 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25728840 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1337 KDM3B is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22615488 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:8536 herpes zoster ECO:0000270 expression pattern evidence used in manual assertion PMID:21954956 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21868509 20220627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15955140 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:19147762 20090325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_marker_for DOID:2018 hyperinsulinism ECO:0000270 expression pattern evidence used in manual assertion PMID:17598972 20070802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6515 LATS2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32682784 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:1577 limited scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:19886888 20140415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24957 HOXA11-AS is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:27317124 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7371 MSLN is_marker_for DOID:4608 common bile duct neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:16416732 20100618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_marker_for DOID:8515 Cor pulmonale ECO:0000270 expression pattern evidence used in manual assertion PMID:27403033 20210423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4916 HIRA is_marker_for DOID:6419 tetralogy of Fallot ECO:0000270 expression pattern evidence used in manual assertion PMID:27748330 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5993 IL1R1 is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:8737779 20140627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:290 GRK3 is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:19400979 20120109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17405187 20100407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_marker_for DOID:8717 decubitus ulcer ECO:0000270 expression pattern evidence used in manual assertion PMID:12692851 20140415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6006 IL21R is_marker_for DOID:0050589 inflammatory bowel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19322899 20120817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16139411 20080304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14063 HDAC4 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:22711276 20141114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_marker_for DOID:9884 muscular dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:10852541 20170109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31526 MIR139 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30710422 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29438285 20200309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31605 MIR23A is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23758639 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:36522710 20231019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19033693 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3800 FOXC1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:16952980 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24156266 20180920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17229797 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18329725 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5045 HNRNPL is_marker_for DOID:0050457 Sertoli cell-only syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22245417 20150420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25517 HEATR1 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25126583 20160205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5154 HPGD is_marker_for DOID:5394 prolactinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22580984 20170116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3678 FGF21 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:26047614 20151012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24292748 20200805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 is_marker_for DOID:3627 aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:25465469 20220926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12635138 20081030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4175 GATM is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:16820567 20230711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_marker_for DOID:4006 bladder urothelial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28507621 20200811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7156 MMP10 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19886850 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:20074784 20180816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6029 IL9 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20525149 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_marker_for DOID:5015 fibrolamellar carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24925055 20200408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_marker_for DOID:9008 psoriatic arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:9972954 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5975 IL13RA2 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20522789 20110225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_marker_for DOID:11650 bronchopulmonary dysplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:15539764 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6150 ITGAV is_marker_for DOID:4195 hyperglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11848444 20070821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6030 IL9R is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12782818 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15843207 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_marker_for DOID:11123 Henoch-Schoenlein purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:20013271 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3680 FGF23 is_marker_for DOID:0050589 inflammatory bowel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22551310 20150604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:19276553 20151026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27494902 20220314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26109813 20190523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4038 FZD1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15492823 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21303961 20130816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17314326 20130816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:17545018 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:11695 portal vein thrombosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28465646 20191119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:2048 autoimmune hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26429926 20190813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_marker_for DOID:1070 primary open angle glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1526740 20140922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:20012460 20140911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22864910 20140911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18505086 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27433094 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31665232 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30849962 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24615 EEF2K is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30522114 20220801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16617 BHLHE41 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27602964 20220316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10623 CCL24 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:12952266 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10623 CCL24 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16304252 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3353 ENO2 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16608642 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12618338 20131218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19417026 20131218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9724088 20131218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:317 AFP is_marker_for DOID:1911 endodermal sinus tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:17525908 20080409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:616 APOH is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16126948 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7885 CCN3 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28035468 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:9470 bacterial meningitis ECO:0000270 expression pattern evidence used in manual assertion PMID:11986266 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15539404 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22173958 20121016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:9367848 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17966842 20090515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:954 BARHL2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27441821 20190225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31238520 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31518438 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1585 CCND3 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16482499 20100121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25679 ATG101 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35592424 20220907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15802346 20110204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15472864 20200706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16195357 20200706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15657466 20200706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:14514395 20200706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15865221 20200706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15271897 20200706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15888207 20200706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3218 EFEMP1 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:12242346 20151007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3590 FAP is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26252379 20220525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_marker_for DOID:4607 biliary tract cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18076041 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14310 BRD7 is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24198243 20141001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17635572 20130805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16494885 20130805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15927 ERGIC3 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23374247 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18497889 20120515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:2988 antiphospholipid syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:26283469 20230901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16159632 20140404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2557 CUX1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23255599 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_marker_for DOID:3457 invasive lobular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18213475 20080201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20714777 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16115302 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9560017 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:3304 germinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17167184 20080624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:10440069 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:601 APOA2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:9649952 20091028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:601 APOA2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19817643 20091028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12131349 20080130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21388664 20110419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13702 BIRC7 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21122381 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:464 AMH is_marker_for DOID:2999 granulosa cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:19359032 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:12140 Chagas disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21866301 20201124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:12140 Chagas disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20699256 20201124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:8413587 20170828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:5603 T-cell acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:17507663 20160622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:386 AKR1C3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24571686 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24475 DMGDH is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30901224 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19229703 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:11309329 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1700 CD80 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22917707 20120914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:1336356 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1371 CA12 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35847888 20220915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3581 BPTF is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9225734 20140926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18774390 20110518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:0050589 inflammatory bowel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21939913 20120711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24213465 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32803502 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20398751 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26997443 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26260259 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23463632 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:22333502 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:182 calcinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18422975 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:727 ARTN is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20395845 20100610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:727 ARTN is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19304517 20100610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3012 DPYD is_marker_for DOID:3121 gallbladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16619549 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12883737 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1069 BMP2 is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16519147 20080116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:11166 Human papillomavirus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16406113 20080626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:11166 Human papillomavirus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16415792 20080626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25960238 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10666388 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11552926 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1554 CBX4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23943028 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:341 peripheral vascular disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19761940 20091110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:10618301 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:3458 breast adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25050522 20140825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23892499 20131218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:20067857 20150319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:20813060 20150319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_marker_for DOID:341 peripheral vascular disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15350700 20070601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24224 CDK12 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31523177 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:1818842 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21860532 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:1689629 20220707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:11656 cicatricial pemphigoid ECO:0000270 expression pattern evidence used in manual assertion PMID:12036968 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:537 ANXA2 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20493868 20100608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2535 CTSH is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8640738 20120120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:2224 essential thrombocythemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22196954 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32345579 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32416070 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32365221 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:33197260 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32427582 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32434211 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32297828 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:4905 pancreatic carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9252195 20140624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:17572512 20120831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 is_marker_for DOID:0080685 aortic dissection ECO:0000270 expression pattern evidence used in manual assertion PMID:23518852 20210303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22065054 20120905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17368721 20150904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31081086 20220314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30974224 20220314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26564738 20220314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19217321 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:3457 invasive lobular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10640988 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2097 CMA1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20813890 20110317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17869 AFF4 is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33417923 20221028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8864 CFP is_marker_for DOID:12134 factor VIII deficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:6912882 20160322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16783 CDC73 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24257751 20211221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12470426 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12651606 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17537980 20130103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1119 BST2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24706327 20190423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:16857270 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:1070 primary open angle glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22406080 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19488907 20100408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17192291 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16019138 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17760743 20080201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1073 BMP6 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18072288 20080115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:25604087 20231211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:11133838 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23935864 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31211449 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD is_marker_for DOID:11132 prostatic hypertrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:11781193 20080502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3557 FABP3 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:8326460 20061107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17073871 20140529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17845420 20140529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16685269 20080703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN is_marker_for DOID:11981 morbid obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:19756893 20091027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN is_marker_for DOID:11981 morbid obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:15970339 20091027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16783 CDC73 is_marker_for DOID:5520 head and neck squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26124004 20211221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:19736615 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17004114 20080501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8522401 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10599031 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_marker_for DOID:8761 acute megakaryocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21640380 20160526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:11077 brucellosis ECO:0000270 expression pattern evidence used in manual assertion PMID:32069255 20210721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21747 CPEB4 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:26627607 20191107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:954 BARHL2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27542258 20190225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_marker_for DOID:0081267 graft-versus-host disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17264819 20110127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16328005 20080122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:16123400 20140922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28081728 20220816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0070355 overactive bladder syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21284020 20121106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3560 FABP5 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16489065 20150121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2348 CREBBP is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11264541 20170919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE is_marker_for DOID:0050590 severe congenital neutropenia ECO:0000270 expression pattern evidence used in manual assertion PMID:19620402 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22625427 20220908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:15772970 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:785 ATF3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26944919 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:785 ATF3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26522727 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:112 esophageal varix ECO:0000270 expression pattern evidence used in manual assertion PMID:8664482 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_marker_for DOID:12351 alcoholic hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17258719 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32365221 20200624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32198776 20200624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32220650 20200624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32345579 20200624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23285146 20160215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1119 BST2 is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:30249485 20190501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2451 CSNK1A1 is_marker_for DOID:3429 inclusion body myositis ECO:0000270 expression pattern evidence used in manual assertion PMID:18191026 20150826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_marker_for DOID:8544 chronic fatigue syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18801465 20110505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28675510 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20085559 20111011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15468 DYNLRB1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11750132 20170809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7611208 20160120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:437 myasthenia gravis ECO:0000270 expression pattern evidence used in manual assertion PMID:23043710 20140624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:581 APBB1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10723070 20150722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19011961 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17559031 20080804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17828507 20080804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3353 ENO2 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:21130083 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10626 CCL27 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32360286 20200618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21140796 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17432 CHIA is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:15192232 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_marker_for DOID:4617 periapical granuloma ECO:0000270 expression pattern evidence used in manual assertion PMID:20646081 20120531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7137 AFDN is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23393160 20190111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18701502 20141008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21667051 20130820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:216 ADAM9 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14997207 20100527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12370548 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32427582 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32198776 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23059 BCAN is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:16061654 20190301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23059 BCAN is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:23253190 20190301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14734466 20080610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16014397 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:32245981 20231107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:11561 hypertensive retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:21091359 20140912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:13922 eosinophilic esophagitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21211656 20110913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:12132 granulomatosis with polyangiitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21411717 20110920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21049277 20140129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21303517 20140129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:69 ABCE1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23556449 20160331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26432329 20211026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0050864 non-arteritic anterior ischemic optic neuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15206651 20140912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:9146 visceral leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:28355218 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1605 CCR4 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12761880 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:12804 mucopolysaccharidosis IV ECO:0000270 expression pattern evidence used in manual assertion PMID:22176730 20130730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21731723 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:0060449 gelatinous drop-like corneal dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:10502582 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16980 CFHR3 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32663515 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1579 CCNB1 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16614707 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:12192610 20150825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 is_marker_for DOID:11870 Pick's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17548164 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 is_marker_for DOID:11870 Pick's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16496165 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:21870072 20130528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11781193 20080502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2520 CTPS2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21378502 20110606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2537 CTSL is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19074676 20100106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1610 CCR9 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16210593 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:14095 boutonneuse fever ECO:0000270 expression pattern evidence used in manual assertion PMID:3361150 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:9182 pemphigus ECO:0000270 expression pattern evidence used in manual assertion PMID:22738420 20140829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19092169 20090513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3581 BPTF is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9792236 20140926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:943 ADGRB1 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25376607 20190107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:32051532 20210518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17170378 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:7653485 20101022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:317 AFP is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22147961 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:317 AFP is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22392353 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:317 AFP is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25968302 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:317 AFP is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28611981 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:20664492 20150921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:20685687 20130522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15763444 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27055635 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3115 E2F3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15184867 20180119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3115 E2F3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25017995 20180119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3115 E2F3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17701752 20180119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2766 DEFB1 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17000097 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23091285 20130524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:2212911 20220616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19460251 20220616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12194640 20220616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3341 EMX2 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26132438 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17177989 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29849 CADM2 is_marker_for DOID:768 retinoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30320366 20200102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:2987 familial mediterranean fever ECO:0000270 expression pattern evidence used in manual assertion PMID:16721492 20201124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_marker_for DOID:2355 anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15855576 20091026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_marker_for DOID:2355 anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16681558 20091026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:10837382 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:17096887 20160215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3273 EIF3H is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10362802 20080218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:937 BAG1 is_marker_for DOID:2893 cervix carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10047462 20080620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31374064 20210617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:18374694 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16001981 20201025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30267213 20210215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21912640 20210215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18093249 20150811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB is_marker_for DOID:4914 esophagus adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9770500 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1579 CCNB1 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17483252 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33320844 20220309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1951 CHRM2 is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:19103464 20111028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29105936 20200519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11418676 20200519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28067328 20200519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9655223 20140625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11028856 20140625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18561741 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17143481 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21393552 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21125401 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:17654056 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24190 CAMK2N1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31762801 20200121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24190 CAMK2N1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25003983 20200121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:30119248 20220119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:8123879 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17715340 20170927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:9212353 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:8914465 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19729666 20110217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19019166 20130802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1753 CDH13 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11326751 20080604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21496867 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24548441 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:640 AQP7 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15338270 20070730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:25512630 20200518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:18775023 20200518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:24668726 20200518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_marker_for DOID:0050750 splenic marginal zone lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10329919 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21356099 20110505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13575 BRD4 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25120803 20140929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21482072 20120524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22535626 20120524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27827395 20220822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30653121 20220822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_marker_for DOID:668 myositis ossificans ECO:0000270 expression pattern evidence used in manual assertion PMID:8678932 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12670333 20160114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_marker_for DOID:3121 gallbladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8093356 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16114020 20130125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2861 DHFR is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:12972803 20160307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2861 DHFR is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:9226157 20160307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25657 BCORL1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26648304 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16822679 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18472407 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:28843383 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28177909 20210302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:291 ADSL is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:3690833 20061218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31874165 20220624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12470426 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16541433 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16091761 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20797315 20130123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:74 hematopoietic system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12111784 20160726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11497291 20210521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11054182 20170511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:12365 malaria ECO:0000270 expression pattern evidence used in manual assertion PMID:18632918 20210721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:12365 malaria ECO:0000270 expression pattern evidence used in manual assertion PMID:22290142 20210721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:850 ATP5PO is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28672194 20190730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1952 CHRM3 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20394512 20110617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3321 ELK1 is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:20126313 20131205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10626 CCL27 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:12642842 20070727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15657466 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17052299 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16195357 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17129463 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15602737 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15781938 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15865221 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3265 EIF2S1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16954686 20150902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:429 ALOX12 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:8304420 20111103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33603170 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27610024 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17532856 20080220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3364 ENTPD2 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15651265 20150114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32416070 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32427582 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32360286 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:12849 autistic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:21095018 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11697625 20160623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1503 CASP2 is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:17627033 20100714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:9470 bacterial meningitis ECO:0000270 expression pattern evidence used in manual assertion PMID:6122844 20140909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:0080797 nasal type extranodal NK/T-cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27595782 20210219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:12449 aplastic anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22537155 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1579 CCNB1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16557593 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:13544 low tension glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21946544 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:9182923 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:7531628 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2745 DDX3X is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16301996 20220209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:174 ACVR2B is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:27176145 20230619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:15526056 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:1564 fungal infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22287435 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:108 ACHE is_marker_for DOID:10487 Hirschsprung's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21991983 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN is_marker_for DOID:4248 coronary stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19015606 20091028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16180015 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12654514 20150811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23078847 20130319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:17957542 20130123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16165 DSN1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27329586 20200529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:8919037 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10620 CCL21 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17717200 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9194578 20140625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22311377 20140625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1607 CCR6 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21742595 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:594 API5 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10780674 20071231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21107133 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21303517 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21049277 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20056091 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1383 CA9 is_marker_for DOID:3883 Lynch syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17855694 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 is_marker_for DOID:4074 pancreatic adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27919956 20171115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:16930142 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:22158777 20160217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1911 CHAF1B is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19309489 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2240 COPS5 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26606000 20220705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19597126 20110721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1082 BNIP1 is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15716609 20190417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19217321 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:16864079 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_marker_for DOID:182 calcinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18422975 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_marker_for DOID:5138 leiomyomatosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15762960 20080624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_marker_for DOID:11612 polycystic ovary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17535988 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:3179 inverted papilloma ECO:0000270 expression pattern evidence used in manual assertion PMID:21608063 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:3179 inverted papilloma ECO:0000270 expression pattern evidence used in manual assertion PMID:19863319 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:758 ASS1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11556547 20100823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11451295 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:114 heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15850960 20160217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:0080745 polymyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:15772970 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:11934 head and neck cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27982046 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:193 ADAM15 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17465204 20100527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5394 CFI is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:2973157 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20438838 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1371 CA12 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29900055 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1371 CA12 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35362480 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1371 CA12 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31934040 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:0081267 graft-versus-host disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9404931 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:1967 leiomyosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18156978 20080626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22337222 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:815 ATP2B2 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_marker_for DOID:11335 sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20430603 20101013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31253192 20220128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:13949 interstitial cystitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21284020 20121106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19603017 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:429 ALOX12 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14532840 20100105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16507107 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_marker_for DOID:10459 common cold ECO:0000270 expression pattern evidence used in manual assertion PMID:11865407 20101217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_marker_for DOID:3571 liver cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32782619 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:18303100 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:28843383 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:19606374 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:18651432 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:0111253 neurofibromatosis 1 ECO:0000270 expression pattern evidence used in manual assertion PMID:22120694 20120524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:12895 keratoconjunctivitis sicca ECO:0000270 expression pattern evidence used in manual assertion PMID:16159632 20140404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17924141 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10385363 20110429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16617 BHLHE41 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18223678 20220317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21195542 20170714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 is_marker_for DOID:2870 endometrial adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17295646 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21165554 20210415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25613619 20210415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2745 DDX3X is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26892600 20220209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2745 DDX3X is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27007150 20220209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2745 DDX3X is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31391454 20220209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2745 DDX3X is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26087195 20220209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:1837062 20130419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25561809 20210408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31263894 20210408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2654 CCN1 is_marker_for DOID:0050830 peripheral artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:33222686 20230526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:550 AOC3 is_marker_for DOID:9246 cerebral amyloid angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17393059 20091027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23393 CARM1 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15221992 20080521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:550 AOC3 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11522499 20091016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:612 APOD is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9751198 20090629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2158 CNP is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19473295 20120518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20412290 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 is_marker_for DOID:0080365 endometrial hyperplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:16803539 20080804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15666359 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21711961 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:13276 Mycoplasma pneumoniae pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:9255891 20110321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1791 CDKN3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23292002 20191219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1791 CDKN3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27314282 20191219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1791 CDKN3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22390936 20191219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18334837 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22678621 20120926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:2987 familial mediterranean fever ECO:0000270 expression pattern evidence used in manual assertion PMID:20518740 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:26437001 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15161057 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1876 CFLAR is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22582174 20160630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10319819 20180830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12633148 20180830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12095160 20170919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14969845 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32760707 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8665497 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:3492 mixed connective tissue disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9182923 20140624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2767 DEFB4A is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17000097 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:840 ATP5PB is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28672194 20190730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21875409 20150825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:746 ASL is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30901224 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:9815151 20121005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32503877 20210322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:3753 Hermansky-Pudlak syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:25347450 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27002935 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21267442 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:19158083 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:226 ADARB1 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22226999 20170919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:226 ADARB1 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20372915 20170919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8783649 20160809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16165 DSN1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30136646 20200529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:3178 skin papilloma ECO:0000270 expression pattern evidence used in manual assertion PMID:21715145 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:12351 alcoholic hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:24429361 20191025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:12351 alcoholic hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10446112 20191025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL is_marker_for DOID:3347 osteosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22623369 20210518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2509 CTNNA1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17639504 20080211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2509 CTNNA1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16334164 20080211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:1596 depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:20227453 20110106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10495037 20120124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8618685 20120124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3555 FABP1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15830271 20070808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_marker_for DOID:874 bacterial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:21373266 20110628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23692 ACKR3 is_marker_for DOID:2600 laryngeal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16494043 20220506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17412 CLCF1 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:12689 acoustic neuroma ECO:0000270 expression pattern evidence used in manual assertion PMID:20600642 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17513560 20080527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:4195 hyperglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:20841614 20130731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:1712 aortic valve stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15597579 20070810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1802 CDSN is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21211653 20210225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1693 CD68 is_marker_for DOID:2938 Epstein-Barr virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21071500 20210125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1693 CD68 is_marker_for DOID:2938 Epstein-Barr virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21602260 20210125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:9649952 20130311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18079481 20130311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11979070 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19032378 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21817131 20130801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17004110 20080111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:20142996 20171103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28053542 20220909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11355950 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25704572 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29962266 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20302606 20101014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:0050830 peripheral artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16321391 20120125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8768 AIFM1 is_marker_for DOID:0110429 dilated cardiomyopathy 1H ECO:0000270 expression pattern evidence used in manual assertion PMID:19332114 20150715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20699612 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11003620 20190812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1736 CDC42 is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:18391128 20120223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33470887 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:37483811 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1121 BTC is_marker_for DOID:3892 insulinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10724350 20100623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8666063 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7532466 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15378282 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_marker_for DOID:13515 tuberous sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22752548 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:23522962 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17916181 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2557 CUX1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30561038 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15478 ADAM33 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:17339047 20101102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16548899 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:17641057 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32051824 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21496867 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:9201 lichen planus ECO:0000270 expression pattern evidence used in manual assertion PMID:20372767 20140827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21569504 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1116 BSG is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9154157 20080118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1473 CANX is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:18567819 20091109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:12663464 20090923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:12823854 20150903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20495569 20150903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11789762 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32276600 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21124077 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31205511 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21990318 20130903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2363 CRKL is_marker_for DOID:4159 skin cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16391854 20131204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16857270 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19373627 20110114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20205697 20110114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:929 B4GALT6 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25216636 20190219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:943 ADGRB1 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12507886 20190107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24111870 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26314964 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22083347 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:5520 head and neck squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20604875 20210422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31932471 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18023033 20210921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1066 BMI1 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19585519 20140926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9557605 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15686130 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2453 CSNK1E is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10514399 20150826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:21850157 20140326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28042953 20210422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10822722 20130123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8139482 20130123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1066 BMI1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21165554 20210415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13759 CYFIP1 is_marker_for DOID:0060041 autism spectrum disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:20029941 20161107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:9146 visceral leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:21991751 20111206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17384650 20160725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18774390 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2097 CMA1 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17334631 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12138242 20080618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21888025 20121207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19842835 20101110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19615053 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20056091 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20404807 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 is_marker_for DOID:0050891 adrenal cortical adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12457455 20110111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29069277 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:896 AVPR1B is_marker_for DOID:3829 pituitary adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28692683 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:21049487 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20581 CYP26B1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18467719 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32198776 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32434211 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32227274 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32427582 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32456948 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32345579 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32417135 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32181911 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32365221 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32125452 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32406594 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:26063974 20210212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:29702526 20210212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15781969 20150827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17880769 20090630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_marker_for DOID:9655 oral mucosa leukoplakia ECO:0000270 expression pattern evidence used in manual assertion PMID:28939076 20220209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:12554 hemolytic-uremic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9423793 20201123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:8476 Whipple disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19664628 20210727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2972 DNM1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20847448 20180205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17156343 20101111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:5327 retinal detachment ECO:0000270 expression pattern evidence used in manual assertion PMID:19081814 20120117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18234280 20080626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_marker_for DOID:1040 chronic lymphocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:10090943 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_marker_for DOID:1040 chronic lymphocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:10329919 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_marker_for DOID:1040 chronic lymphocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:10516749 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_marker_for DOID:1040 chronic lymphocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:10753858 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18451752 20090422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17175927 20080213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:0050746 mantle cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24060591 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_marker_for DOID:657 adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11721176 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3177 EDN2 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:9015697 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20818377 20110711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28592115 20200515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27245433 20200515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_marker_for DOID:646 viral encephalitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21592995 20120516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:130 ACTA2 is_marker_for DOID:4977 lymphedema ECO:0000270 expression pattern evidence used in manual assertion PMID:21510802 20170419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20367977 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:546 ANXA8 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19376120 20100608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3395 EPHB4 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31885720 20220808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:399 tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:26300588 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22919364 20141107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12898600 20100629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:601 APOA2 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:9578960 20091028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:27684274 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:27685837 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:16081850 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:10843722 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16195357 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15888207 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15781938 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15657466 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15602737 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19020751 20100407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1743 CDC5L is_marker_for DOID:4914 esophagus adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15725809 20150707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:93 ACAT1 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15961705 20100622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15504310 20090520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:601 APOA2 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17923573 20091028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18684970 20101105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2515 CTNND1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26464646 20190111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8621765 20101217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:6255 growth hormone secreting pituitary adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18981426 20140625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1570 CCKAR is_marker_for DOID:10211 cholelithiasis ECO:0000270 expression pattern evidence used in manual assertion PMID:15908333 20091102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:703 ARPC1A is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:15098003 20161221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32387347 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29317648 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28031120 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29689245 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30747208 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:3923750 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:995 BCL2L2 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10638987 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18776816 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19171478 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1552 CBX2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24885002 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16115907 20160801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21468168 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21506665 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:17635572 20091105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:464 AMH is_marker_for DOID:11612 polycystic ovary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17224152 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:22032915 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:18192035 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25990 AMBRA1 is_marker_for DOID:4752 multiple system atrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:27875637 20190218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20402389 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20589464 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17451 CYSLTR1 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16689996 20101117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16799475 20080206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26837 AMER1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30631060 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26837 AMER1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28675510 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18413816 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33717244 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19606481 20120831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1637 CD1D is_marker_for DOID:12206 dengue hemorrhagic fever ECO:0000270 expression pattern evidence used in manual assertion PMID:24945350 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18696092 20240104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18658135 20240104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_marker_for DOID:14735 hereditary angioedema ECO:0000270 expression pattern evidence used in manual assertion PMID:9129025 20161118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:26339412 20210727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24623375 20210727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:17125594 20130912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25368239 20220426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19148483 20220426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21633638 20220426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23916293 20210727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24594990 20210727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15360049 20080221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25992884 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1910 CHAF1A is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24845563 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:321 tropical spastic paraparesis ECO:0000270 expression pattern evidence used in manual assertion PMID:20945034 20200831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1044 BGN is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33470887 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19733456 20101021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:0070004 myeloid neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:12479587 20160316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8870373 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2536 CTSK is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:18635848 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11748448 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3115 E2F3 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16938365 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:3457 invasive lobular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16761510 20080219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1507 CASP6 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16231180 20171004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:15755896 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18190825 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1733 CDK13 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33292020 20221103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10886076 20080609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17031406 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10654915 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31396300 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10398436 20190528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2323 CPS1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30901224 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13203 AICDA is_marker_for DOID:2938 Epstein-Barr virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21697063 20200706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13203 AICDA is_marker_for DOID:2938 Epstein-Barr virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25099163 20200706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15814 ACSS2 is_marker_for DOID:3319 lymphangioleiomyomatosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29885404 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:557 kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15608477 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:3907907 20090708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:2942 bronchiolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17297249 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3218 EFEMP1 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:19887559 20151006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1507 CASP6 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:10574243 20081006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:1579407 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16642 CXCL16 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32416070 20200616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14310 BRD7 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:24404152 20141001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7561187 20160316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1929 CHGA is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20730520 20121019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14760081 20080609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:986 alopecia areata ECO:0000270 expression pattern evidence used in manual assertion PMID:21936853 20141112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R is_marker_for DOID:2226 myeloproliferative neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:23897249 20160114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30537000 20220429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1434 CALB1 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15168879 20090930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23374911 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:6720266 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11393 AURKA is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18485461 20080618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1579 CCNB1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19957331 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:1555 urticaria ECO:0000270 expression pattern evidence used in manual assertion PMID:21676041 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:1687 neovascular glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20373895 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26055143 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18715616 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21044750 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1051 BIK is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16322756 20190401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2451 CSNK1A1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10514399 20150826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8139482 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:813 septic arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:17393419 20111205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:20080265 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32360286 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16221094 20090629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20711835 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:3826891 20110406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:3264125 20110406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:16225921 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2519 CTPS1 is_marker_for DOID:0050625 biliary tract benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:12819026 20110601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29199150 20220912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33564003 20220912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32360286 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:11477167 20130826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15781938 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15888207 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16195357 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15865221 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:705 ARPC2 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:17722226 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33574707 20220318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1777 CDK6 is_marker_for DOID:0050902 medulloblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16314645 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:1336986 20151230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:19682336 20151230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:341 peripheral vascular disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17075777 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9212230 20110517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:30119248 20220119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_marker_for DOID:1574 alcohol use disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:29404485 20190826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18592004 20080812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21471959 20110422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1338 C5AR1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19926870 20110406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29325581 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:1596 depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:22972567 20121016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18204050 20080515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32302954 20200623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32350161 20200623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32198776 20200623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32345579 20200623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2705 DCN is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18414424 20090714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20863706 20120515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1692 CD63 is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15817881 20091104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:9374919 20161118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11475557 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17868461 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11451295 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15131005 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:12823854 20150903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:22123563 20120207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:3253105 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18535598 20140911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12432554 20080715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:3347 osteosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29039472 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6210 CD82 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12497033 20080201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:15871446 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16708626 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20124469 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1876 CFLAR is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:11033112 20160705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11831984 20080213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15330191 20080213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:809 cocaine abuse ECO:0000270 expression pattern evidence used in manual assertion PMID:21806491 20230901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:386 AKR1C3 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:19681734 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15743319 20140623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14629 CDCA8 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:25789628 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:25392926 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:29857122 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:1210 optic neuritis ECO:0000270 expression pattern evidence used in manual assertion PMID:11966770 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23632475 20210903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10623 CCL24 is_marker_for DOID:8544 chronic fatigue syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:26615570 20191112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16822679 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22207678 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17893004 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18258817 20091027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15951972 20180706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:9358772 20090319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:20482449 20130313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:26339412 20210727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27610024 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:0081267 graft-versus-host disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21258011 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:1347773 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3555 FABP1 is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:16118482 20150121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27010547 20210917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20996 ASF1B is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21179005 20140924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:262 ADORA1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:17959644 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16647 CXCR6 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21303517 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12890743 20080213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5951 CADM1 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17009984 20080121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23338051 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16202216 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:172 ACVR1B is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32066878 20220324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2695 DBN1 is_marker_for DOID:1561 cognitive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:16783169 20150911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15725351 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:1579407 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19171731 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31713929 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9863491 20191119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15726661 20191119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29768734 20191119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16505242 20091105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18342927 20080506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:0050169 cutaneous lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:18050371 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20583542 20120127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18997483 20120127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB is_marker_for DOID:12842 Guillain-Barre syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11134381 20120120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3393 EPHB2 is_marker_for DOID:1561 cognitive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:23314923 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15627719 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:321 tropical spastic paraparesis ECO:0000270 expression pattern evidence used in manual assertion PMID:7561187 20160315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2363 CRKL is_marker_for DOID:3905 lung carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16391854 20131204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7137 AFDN is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16819513 20190109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:13564 aspergillosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20879853 20140917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:2527 nephrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20685819 20130111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29567 ACSBG1 is_marker_for DOID:10588 adrenoleukodystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:15800013 20181217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_marker_for DOID:13922 eosinophilic esophagitis ECO:0000270 expression pattern evidence used in manual assertion PMID:24704289 20160526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 is_marker_for DOID:8544 chronic fatigue syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:26615570 20191112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17270214 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24696415 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24815833 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:590 BIRC2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27737687 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14614020 20080703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16469638 20080703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15776477 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:23241952 20160804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1048 BHMT2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30901224 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:5041 esophageal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27188433 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15855 CD93 is_marker_for DOID:3963 thyroid gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32626543 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8138195 20220610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:25209900 20161216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25657 BCORL1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26879601 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25657 BCORL1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29679906 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19213775 20110428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1777 CDK6 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10574260 20180103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19223495 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24686516 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:7147 ankylosing spondylitis ECO:0000270 expression pattern evidence used in manual assertion PMID:6605119 20140912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:7147 ankylosing spondylitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22422197 20140912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_marker_for DOID:4914 esophagus adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22301112 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_marker_for DOID:11476 osteoporosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10773580 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:1580 diffuse scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:18432520 20110718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24190 CAMK2N1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23651211 20200121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17603912 20091123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:2352345 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2714 DCX is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:20888264 20170518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1383 CA9 is_marker_for DOID:0080365 endometrial hyperplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:17452774 20080804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_marker_for DOID:9206 Barrett's esophagus ECO:0000270 expression pattern evidence used in manual assertion PMID:17570215 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:937 BAG1 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15297164 20080620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:229083 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23702648 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9500468 20180709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1445 CALM2 is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:22885997 20120821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6210 CD82 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17393117 20080131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25885889 20210302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17451 CYSLTR1 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:18490405 20101119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3423 EPX is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:12199967 20180221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3423 EPX is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:26645423 20180221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3423 EPX is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20813885 20180221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:69 ABCE1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18788636 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23765250 20160311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24810474 20160311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_marker_for DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:24119107 20150825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11145756 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17098 DICER1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18167183 20210714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1678 CD4 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32427582 20200618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1678 CD4 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32364527 20200618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:12752594 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20874832 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:21195211 20120905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18684970 20101105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:949 BAK1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9894249 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:12100141 20160526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15521915 20160526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_marker_for DOID:2696 Leydig cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:17656605 20080225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:10126 keratoconus ECO:0000270 expression pattern evidence used in manual assertion PMID:23489213 20140520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11087905 20120124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:12148596 20140624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20889906 20110513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31253987 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30227870 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21658190 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21711961 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:8256914 20101025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:9120 amyloidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22935190 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1338 C5AR1 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:1214 tympanosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14710000 20140826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28395580 20210630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1551 CBX1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18436254 20141006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:32856850 20230711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19640330 20090914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_marker_for DOID:11713 diabetic angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15504310 20090520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2570 CYB5A is_marker_for DOID:9637 stomatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10406239 20160715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:8295 scabies ECO:0000270 expression pattern evidence used in manual assertion PMID:17884035 20140908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16845792 20100121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2767 DEFB4A is_marker_for DOID:10459 common cold ECO:0000270 expression pattern evidence used in manual assertion PMID:15034083 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20456365 20120227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:590 BIRC2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27827395 20220822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3036 DSC2 is_marker_for DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:24086444 20230417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1910 CHAF1A is_marker_for DOID:769 neuroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24335960 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16936148 20091021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16911620 20091021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9631944 20130905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:611 APOC4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31211449 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2203 COL4A2 is_marker_for DOID:13129 severe pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:24331737 20230524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:10140 dry eye syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20575639 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:12653852 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:33320844 20220309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3559 FABP4 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:19573524 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:847 ATP5PF is_marker_for DOID:10825 essential hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:14654753 20181022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18422729 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:22469443 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_marker_for DOID:12918 thromboangiitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:8763587 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:10457 Legionnaires' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9255891 20110321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12646761 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16013223 20140916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:2353152 20140916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:8618 oral cavity cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16120121 20220613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:12132 granulomatosis with polyangiitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21412229 20120831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:8469 influenza ECO:0000270 expression pattern evidence used in manual assertion PMID:24187568 20210215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16250882 20111205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 is_marker_for DOID:14067 Plasmodium falciparum malaria ECO:0000270 expression pattern evidence used in manual assertion PMID:20062916 20151215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:14067 Plasmodium falciparum malaria ECO:0000270 expression pattern evidence used in manual assertion PMID:15972509 20111205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20167810 20180710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19177252 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:21041689 20130530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30971492 20210112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11755016 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30251 BAMBI is_marker_for DOID:1712 aortic valve stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23168040 20190222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10643 CXCL6 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20659080 20110128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24650 EHMT1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24649311 20141112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24650 EHMT1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24805087 20141112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 is_marker_for DOID:12351 alcoholic hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10446112 20191025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1834 CEBPB is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19248099 20151001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:545 ANXA7 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15073110 20080430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22357516 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16372331 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:6543 acne ECO:0000270 expression pattern evidence used in manual assertion PMID:11349462 20140908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:6543 acne ECO:0000270 expression pattern evidence used in manual assertion PMID:23174057 20140908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:6543 acne ECO:0000270 expression pattern evidence used in manual assertion PMID:16489259 20140908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1434 CALB1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10635 CCL8 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32416070 20200616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24615 EEF2K is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16098202 20151006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:4914 esophagus adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31906887 20210624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:768 retinoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14533029 20140625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_marker_for DOID:12466 secondary hyperparathyroidism ECO:0000270 expression pattern evidence used in manual assertion PMID:11044218 20130111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17391779 20070719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32110952 20220422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33429333 20220422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27330310 20220422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29481800 20220422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28739729 20220422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28515923 20220422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33617803 20220422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29719205 20220422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:0050855 renal fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22669512 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18271 ENAH is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35030977 20230105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8555064 20160321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19786211 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19046227 20090708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_marker_for DOID:9993 hypoglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19211168 20091020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:0050486 exanthem ECO:0000270 expression pattern evidence used in manual assertion PMID:18384452 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:11400 pyelonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:10504496 20140205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22549618 20210422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26581505 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15247769 20080122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15131578 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:20655560 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:10912863 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3214 EEF2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24589652 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1777 CDK6 is_marker_for DOID:7698 non-functioning pancreatic endocrine tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:29149451 20180814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1700 CD80 is_marker_for DOID:3213 demyelinating disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21310664 20120917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1952 CHRM3 is_marker_for DOID:0050685 small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20150622 20110617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14633682 20080218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21747 CPEB4 is_marker_for DOID:10762 portal hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:26627607 20191107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14506154 20080122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15907478 20200804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18824671 20200804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24073 AMIGO2 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15107827 20190118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27246604 20191025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1839 ADA2 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19460251 20220610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1834 CEBPB is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30659195 20210106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20204550 20140822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11948115 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18495610 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17924468 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18425369 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22895779 20161111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 is_marker_for DOID:10140 dry eye syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23201116 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:433 ALOX15 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15111312 20111101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12244302 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18154768 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20508721 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:3499520 20150827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16469638 20150827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:676 juvenile rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:22885951 20121018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21139810 20140912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:29755407 20220912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16783 CDC73 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21692036 20211221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32360286 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20292 CAB39 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28605041 20190503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:3362 coronary aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:22683371 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH is_marker_for DOID:4724 brain edema ECO:0000270 expression pattern evidence used in manual assertion PMID:27487831 20230726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5394 CFI is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9745775 20210315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10410539 20110321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26464646 20190111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1506 CASP5 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12633148 20180830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:833 ATP5F1C is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:19549744 20190726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:108 ACHE is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19474411 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16602032 20110721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:17302903 20110721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:349 AHSG is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:19228823 20091016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24885564 20210917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22807955 20210917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19218674 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30251 BAMBI is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27549738 20190222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:820 myocarditis ECO:0000270 expression pattern evidence used in manual assertion PMID:11472393 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:13254 diverticulitis of colon ECO:0000270 expression pattern evidence used in manual assertion PMID:21553154 20210628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18984978 20160715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_marker_for DOID:3275 thymoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20728226 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3488 ETS1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19225563 20091021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2956 DNASE1 is_marker_for DOID:2048 autoimmune hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28263100 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 is_marker_for DOID:9778 irritable bowel syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:25277410 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_marker_for DOID:636 central pontine myelinolysis ECO:0000270 expression pattern evidence used in manual assertion PMID:24252214 20140808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16478840 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:54 ABCC3 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:26512967 20160526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2908 DLL1 is_marker_for DOID:13375 temporal arteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21220737 20120420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:576 APAF1 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24835407 20180111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1499 CASP1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:12396474 20110407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10748873 20071231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1515 CAST is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10722997 20111128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32458111 20200626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:2048 autoimmune hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21711423 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16379602 20110204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:9669 senile cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:21501079 20150609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:6893335 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31578591 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25717252 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22808142 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19986 CYCS is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25578497 20180926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1726 CDC25B is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14559803 20100706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:616 APOH is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18695102 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8666063 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19217321 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:16864079 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2665 CD55 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15102687 20100628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2665 CD55 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18676748 20100628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:20855682 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:12602965 20140829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:12165738 20140829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18522728 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2767 DEFB4A is_marker_for DOID:874 bacterial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:10213993 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2292 COX7C is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28474567 20180914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:14612904 20080123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:54 ABCC3 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15688370 20100525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23168 FANCM is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17409780 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11751193 20110715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11222358 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19293384 20110628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 is_marker_for DOID:13166 allergic bronchopulmonary aspergillosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17898016 20101110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:10090169 20140808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17987577 20080703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14614020 20080703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1319 C3AR1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:15940127 20110404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:32227090 20201120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17982926 20110419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20822 ADGRL4 is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:22606234 20190108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:4325 Ebola hemorrhagic fever ECO:0000270 expression pattern evidence used in manual assertion PMID:30666927 20210721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17968 A4GNT is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16441422 20100524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:6409476 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:12134 factor VIII deficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:6912882 20160322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11313916 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24755270 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28743276 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:18050371 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17311011 20080109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29228584 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26842877 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3177 EDN2 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:10598486 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1608 CCR7 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:16394278 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7968078 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:4914 esophagus adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10340890 20140623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1874 CFL1 is_marker_for DOID:11457 brain compression ECO:0000270 expression pattern evidence used in manual assertion PMID:25708984 20170201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22207678 20120127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21179920 20120127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:215 ADAM8 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:17339047 20110322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10433925 20120531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28677753 20180917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29498921 20180917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3321 ELK1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20126313 20131205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16689760 20061216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26517514 20210413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24211739 20210413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25226601 20210413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30236481 20210219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30161254 20210219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:0060704 lymphoproliferative syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9067691 20120426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_marker_for DOID:4031 eosinophilic gastroenteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:25234644 20160527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1876 CFLAR is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:14562111 20160630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10073974 20110225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32682784 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1569 CCK is_marker_for DOID:11981 morbid obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17443025 20070706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:9008 psoriatic arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:16936328 20111205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 is_marker_for DOID:0080379 nephrotic syndrome type 2 ECO:0000270 expression pattern evidence used in manual assertion PMID:17999093 20130321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11222358 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_marker_for DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16894461 20160330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18056176 20080201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18183597 20080201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23804702 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19584283 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22835824 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21102591 20120928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16951227 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21396 ABHD5 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30842415 20220720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:1993 rectum cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24375277 20220422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:20045148 20161004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3546 F8 is_marker_for DOID:0060574 von Willebrand's disease 2 ECO:0000270 expression pattern evidence used in manual assertion PMID:16409463 20180124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:937 BAG1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11181661 20080620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30789971 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3392 EPHB1 is_marker_for DOID:0080685 aortic dissection ECO:0000270 expression pattern evidence used in manual assertion PMID:30787994 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_marker_for DOID:1799 islet cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:22761470 20180912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1958 CHRNA4 is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:15465084 20150216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2509 CTNNA1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17760743 20080211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:1596 depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:31396300 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:640 AQP7 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:29783856 20180907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17011986 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31375946 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:18759267 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25975202 20210401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26589513 20210401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:19329212 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16739871 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:12449 aplastic anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:7577642 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:12449 aplastic anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11876982 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:784 ATF2 is_marker_for DOID:11870 Pick's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16496165 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16120080 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17999785 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_marker_for DOID:0080301 atypical hemolytic-uremic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16353080 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1571 CCKBR is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12851875 20100818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2363 CRKL is_marker_for DOID:1520 colon carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16391854 20131204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22041561 20141008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21709195 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:877 ALDH7A1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30901224 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:12145683 20160609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:26512967 20160609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:1245 vulva cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22685591 20200922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11355950 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19786211 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11789762 20210422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:198 ADAM2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10686596 20150710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15128813 20110204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:453 AMBP is_marker_for DOID:0080652 calcium oxalate nephrolithiasis ECO:0000270 expression pattern evidence used in manual assertion PMID:16622176 20121010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2695 DBN1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8838578 20150911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2695 DBN1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18338803 20150911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32245981 20231107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16997395 20080618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:2784515 20110406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:3826891 20110406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17641031 20101105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:21923989 20160215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30251 BAMBI is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18756595 20190221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1384 CABP1 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:17719205 20190507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:319 ACAN is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:16507130 20161219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2169 CNTF is_marker_for DOID:10126 keratoconus ECO:0000270 expression pattern evidence used in manual assertion PMID:23489213 20140520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1693 CD68 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16237152 20200604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1693 CD68 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_marker_for DOID:3049 Churg-Strauss syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21266446 20160526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3227 EFNB2 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17611172 20220808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3227 EFNB2 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31885720 20220808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2545 CTSS is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7717452 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32211850 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:815 ATP2B2 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15930094 20121003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17785358 20091022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3009 DPP4 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24789592 20220525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:22871339 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:22503884 20140917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:22754198 20140917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:1852 intrahepatic cholestasis ECO:0000270 expression pattern evidence used in manual assertion PMID:24493287 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:4752 multiple system atrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:23372841 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23115 EAF2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12907652 20130807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19017998 20101111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:18635848 20091230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:0080546 non-alcoholic fatty liver ECO:0000270 expression pattern evidence used in manual assertion PMID:27639593 20191021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:18811807 20140916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:19645035 20140916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32203224 20220428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32641734 20220428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28812328 20220428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:26640226 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17481528 20100525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32360286 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21906738 20120711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:633 AQP1 is_marker_for DOID:4724 brain edema ECO:0000270 expression pattern evidence used in manual assertion PMID:27487831 20230726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2328 CPT1A is_marker_for DOID:3319 lymphangioleiomyomatosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29885404 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11299848 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15360049 20080221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_marker_for DOID:0060040 pervasive developmental disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:21906006 20120124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19800394 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22682366 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22820591 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:22773904 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1507 CASP6 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12633148 20180830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20138139 20110708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:811 lipodystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:16697654 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_marker_for DOID:2237 hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:1903342 20190812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_marker_for DOID:2237 hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15340576 20190812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1149 BUB1B is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17242465 20100624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1589 CCNE1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17726548 20080125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:22563689 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:12683 vestibular neuronitis ECO:0000270 expression pattern evidence used in manual assertion PMID:14636287 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:0050625 biliary tract benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:15287856 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:0050625 biliary tract benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:15138553 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_marker_for DOID:0050424 familial adenomatous polyposis ECO:0000270 expression pattern evidence used in manual assertion PMID:11809809 20220208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:10026353 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2509 CTNNA1 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:11161853 20080211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:16728275 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:451 AMACR is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15941950 20100106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:8622 measles ECO:0000270 expression pattern evidence used in manual assertion PMID:1402029 20120426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20562228 20110217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29218250 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16886624 20080110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2665 CD55 is_marker_for DOID:2870 endometrial adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11506079 20100628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:10652196 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21081840 20141106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22393 BRINP3 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:25171508 20190419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15797629 20080124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2592 CYP11B2 is_marker_for DOID:0050891 adrenal cortical adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12457455 20110111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17632454 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:640 AQP7 is_marker_for DOID:0060180 colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15338270 20070730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:0111535 progressive osseous heteroplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:18422975 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_marker_for DOID:8677 perinatal necrotizing enterocolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20539009 20120514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10584677 20150721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30858 EFTUD2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:34282556 20230104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:0050175 tick-borne encephalitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16463218 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:429 ALOX12 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:7624992 20100105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16527350 20160803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 is_marker_for DOID:0080301 atypical hemolytic-uremic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12640381 20151216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22865783 20121018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24830737 20170718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:20054800 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19996301 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:8149524 20101019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12857718 20110715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2651 CYP7A1 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28774887 20191218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:545 ANXA7 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17708571 20080429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:2030 anxiety disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:18603621 20140916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:1063 interstitial nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21952467 20130730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24035716 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_marker_for DOID:5733 salpingitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19012687 20161130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:25391381 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:10459 common cold ECO:0000270 expression pattern evidence used in manual assertion PMID:28343401 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11375345 20140711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1119 BST2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26832883 20190423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:20012460 20140911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22140 FAM20C is_marker_for DOID:0050445 X-linked dominant hypophosphatemic rickets ECO:0000270 expression pattern evidence used in manual assertion PMID:24710520 20161108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:707 ARPC4 is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12054546 20161220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16657 BCL2L14 is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14999772 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:17264840 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22613545 20130313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:13641 exfoliation syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16639006 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20514434 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16180659 20100112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19120316 20100112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:108 ACHE is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:2953866 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10522 ACSM3 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21987487 20130308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3529 F11 is_marker_for DOID:3490 Noonan syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:3354599 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:12165532 20110329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:14657873 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3436 ERCC4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16951227 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:22066978 20221014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:19118698 20221014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:35799735 20221014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22337222 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23935945 20220912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20967871 20220716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29286141 20220716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23852810 20220716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21952624 20220716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17591 CLDN23 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21163515 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26150517 20191119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28027570 20191119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:17893002 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 is_marker_for DOID:2596 larynx cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23259294 20220511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:18492752 20120604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:13375 temporal arteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15206651 20140912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18984978 20141008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:8515 Cor pulmonale ECO:0000270 expression pattern evidence used in manual assertion PMID:21450080 20120711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1373 CA2 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27688658 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17507616 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30849962 20190920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:824 periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22795565 20120801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_marker_for DOID:288 endometriosis of uterus ECO:0000270 expression pattern evidence used in manual assertion PMID:22572543 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19597126 20110721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20818377 20110721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16361549 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17171785 20220426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19834873 20091123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21709195 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24443257 20210604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23549037 20210604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16957145 20210604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1764 CDH5 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14695457 20061121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:711 ARRB1 is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:15514408 20180129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23632475 20210902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16024599 20100408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14129 EHMT2 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20940408 20141110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17482919 20080507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19422879 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18345034 20160622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:0050685 small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15541818 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:7910 maxillary sinus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15040115 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17081533 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:7947554 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:12381783 20080610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1001 BCL6 is_marker_for DOID:0050745 diffuse large B-cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15701085 20160819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:12935979 20151215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23974951 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19017998 20101111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB is_marker_for DOID:10881 hand, foot and mouth disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30817906 20200803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19761684 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21297254 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:27639593 20191021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:23521696 20201201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:1070 primary open angle glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21076359 20140520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:10776692 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:1697606 20120228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:12842 Guillain-Barre syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18343991 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:25048951 20200515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:4926 bronchiolo-alveolar adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11948124 20110517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17690186 20080715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1719 CDC14B is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24619757 20150813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1116 BSG is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18223224 20080623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19086656 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16321281 20080130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:10653827 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD is_marker_for DOID:11723 Duchenne muscular dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:23975932 20170428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1371 CA12 is_marker_for DOID:3883 Lynch syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17855694 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24691584 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:9279 hyperhomocysteinemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11950713 20110715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:2999 granulosa cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:12203782 20080627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15861517 20080116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:9002300 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:14556009 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24040 ADIPOR1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17391161 20070629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15888207 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15356152 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15602737 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16195357 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15781938 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:1891 optic nerve disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19277685 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19863188 20111011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17182012 20120123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21697275 20210415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24122997 20210415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21327296 20120530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1077 BMPR1B is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19324947 20110330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:987 alopecia ECO:0000270 expression pattern evidence used in manual assertion PMID:21729031 20140529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:453 AMBP is_marker_for DOID:1074 kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:18046670 20121010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29307797 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:534 ANXA10 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11948121 20110204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1579 CCNB1 is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12610511 20080624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22426659 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:1003 pelvic inflammatory disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21679133 20200819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2714 DCX is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:21477071 20170522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16730007 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17905101 20080509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:0050598 extrapulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16001981 20201025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2210 COL5A2 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:35692390 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26871294 20210412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9836498 20140624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24959380 20180102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19715610 20101105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:1555 urticaria ECO:0000270 expression pattern evidence used in manual assertion PMID:15721839 20120824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:9488273 20140623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17939044 20120227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22751125 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:395 ALAD is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:6848403 20191211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3212 EEF1E1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24917520 20151002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1084 BNIP3 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:14648660 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 is_marker_for DOID:3376 bone osteosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27157136 20210302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 is_marker_for DOID:3376 bone osteosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28339091 20210302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21163515 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:14555823 20160215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3285 EIF4B is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:21635931 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:8558841 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3584 FANCC is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17409780 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:22172228 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12917229 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3585 FANCD2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23897704 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27793774 20220328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25519225 20220328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:34111459 20220826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:7974333 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21747 CPEB4 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26627607 20191107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18830907 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2452 CSNK1D is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10514399 20150826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2452 CSNK1D is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10814741 20150826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1507 CASP6 is_marker_for DOID:11132 prostatic hypertrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:15507514 20081006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18565574 20080812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10934144 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16685269 20080703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18006009 20080703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30423 CACYBP is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18765951 20100625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17627189 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1390197 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:842 ATP5MC2 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28672194 20190729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18288488 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29928356 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17284111 20080130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12833185 20080130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:4926 bronchiolo-alveolar adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19484794 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:12662 paracoccidioidomycosis ECO:0000270 expression pattern evidence used in manual assertion PMID:7921333 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17332923 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17312459 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18322255 20120831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22526901 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:993 BCL2L10 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21171085 20190304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14661 EGLN3 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23788753 20180208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:11650 bronchopulmonary dysplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:20558631 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2545 CTSS is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:7717452 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22393 BRINP3 is_marker_for DOID:3388 periodontal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25887438 20190419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:13576 twin-to-twin transfusion syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23208016 20160215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11309332 20220913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1460 CAMK2A is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:29393370 20180718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:5327 retinal detachment ECO:0000270 expression pattern evidence used in manual assertion PMID:19139725 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:15608300 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1119 BST2 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21565182 20190423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26178168 20171017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:0050185 erythema multiforme ECO:0000270 expression pattern evidence used in manual assertion PMID:18050371 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9778110 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14612939 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3115 E2F3 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16938365 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20541603 20130522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19017998 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:576 APAF1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17224646 20100608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18564286 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21303517 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1693 CD68 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:9699943 20210121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:920 B3GALT5 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14555842 20100409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:18054022 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3395 EPHB4 is_marker_for DOID:264 hemangiopericytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26951238 20221110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:9761079 20140912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:22446866 20140912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:7561187 20160316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1771 CDK2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18236071 20080604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:23576184 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18037 ARID2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31918270 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:896 AVPR1B is_marker_for DOID:7004 ACTH-secreting pituitary adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23884782 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19020783 20160725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29537891 20210721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18091389 20210721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:291 ADSL is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:3690833 20061218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:13375 temporal arteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:10616010 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:6195 conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:3875643 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1589 CCNE1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11212263 20180706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3300 EIF5A is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23322277 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:1074 kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:20710104 20121106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12589965 20120120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17397 BANF1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29059470 20230105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:2272 vulvovaginal candidiasis ECO:0000270 expression pattern evidence used in manual assertion PMID:18243333 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12634633 20100121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11054182 20170511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1709 CD9 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11505398 20100629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26996551 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15857400 20080220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26621837 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23181352 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1149 BUB1B is_marker_for DOID:0080641 tongue carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20204288 20200601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_marker_for DOID:0050741 alcohol dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:12354285 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:5199 ureteral obstruction ECO:0000270 expression pattern evidence used in manual assertion PMID:15673311 20130731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:11335 sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12885947 20140625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21488867 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12118093 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3123 EBAG9 is_marker_for DOID:3007 breast ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12054692 20080701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20473882 20220321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16317707 20070327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1116 BSG is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17021824 20080118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_marker_for DOID:10892 hypospadias ECO:0000270 expression pattern evidence used in manual assertion PMID:23386417 20161229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16304252 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20869263 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19948918 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1722 CDK1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18245534 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11091283 20101214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:633 AQP1 is_marker_for DOID:9428 intracranial hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:27487831 20230726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17483696 20150904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10208589 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1577 CCNA1 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:10068680 20100204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21216588 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3049 DSG2 is_marker_for DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:24086444 20230417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13273 DUOX2 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19759286 20210115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1755 CDH16 is_marker_for DOID:1781 thyroid cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22028439 20180912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:708 ARPC5 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22089643 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29438985 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29408335 20210610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:13141 uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17591667 20140326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:17823536 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:464 AMH is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19820206 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:1564 fungal infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22287435 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_marker_for DOID:0060750 familial temporal lobe epilepsy 3 ECO:0000270 expression pattern evidence used in manual assertion PMID:24590840 20160322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21252046 20111024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:10459 common cold ECO:0000270 expression pattern evidence used in manual assertion PMID:12751040 20110718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18636190 20171016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11790661 20110204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15957539 20070416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:636 AQP3 is_marker_for DOID:4724 brain edema ECO:0000270 expression pattern evidence used in manual assertion PMID:27487831 20230726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:837 ATP5F1D is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28474567 20190827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14757935 20161130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:24583314 20170106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8768 AIFM1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22536549 20150715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15277215 20080116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:10964 cholesteatoma of middle ear ECO:0000270 expression pattern evidence used in manual assertion PMID:23324739 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19581418 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19322776 20220831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17550373 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2674 DAPK1 is_marker_for DOID:13223 uterine fibroid ECO:0000270 expression pattern evidence used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11003620 20190812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11745255 20140623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2767 DEFB4A is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9843998 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33583275 20210521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18507031 20100408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:27106140 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20846521 20130816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21014 ANTXR1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21573768 20141210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23393224 20220912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29755407 20220912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32525817 20220912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:11273992 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15788662 20080221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17119686 20080221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3557 FABP3 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17515913 20090527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12633148 20180830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3192 EEF1A2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8750861 20151001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15726105 20100629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21125401 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3446 ERG is_marker_for DOID:5453 pulmonary venoocclusive disease ECO:0000270 expression pattern evidence used in manual assertion PMID:32209028 20200901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2705 DCN is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:16630654 20090714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:12702777 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1777 CDK6 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:22736304 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2952 DNAH8 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_marker_for DOID:3347 osteosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29039472 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8429686 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24224 CDK12 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32534699 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19189 DOCK6 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29587866 20221220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19189 DOCK6 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32753649 20221220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1777 CDK6 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10884881 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18713296 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15239085 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:11166 Human papillomavirus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23521696 20201201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:182 calcinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18422975 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:182 calcinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20197689 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14872 ASPN is_marker_for DOID:90 degenerative disc disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19327154 20141211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10617 CCL19 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17717200 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:0050847 sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:19913847 20120127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:24092995 20140825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24368019 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23938460 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:20054800 20150522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1602 CCR1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12742282 20120220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16962107 20080507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31018949 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27020590 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23140 ANGPTL6 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:35876300 20230531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:3307 teratoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16822086 20080725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:417 autoimmune disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17214095 20120430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15596044 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15930094 20121003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27498289 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 is_marker_for DOID:264 hemangiopericytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26951238 20221110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:2972 renal artery obstruction ECO:0000270 expression pattern evidence used in manual assertion PMID:21613792 20130123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6210 CD82 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14706010 20080201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6210 CD82 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17290345 20080201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1149 BUB1B is_marker_for DOID:3121 gallbladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18497548 20100624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1706 CD8A is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32427582 20210324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1706 CD8A is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32898168 20210324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_marker_for DOID:3308 embryonal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11593395 20080701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16180015 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2300 CPB2 is_marker_for DOID:2228 thrombocytosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16244771 20061130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:557 kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19291539 20091110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:2381443 20170518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23661793 20201120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1371 CA12 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22439015 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21077277 20120815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1555 CBX5 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22900142 20141006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26474280 20210518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19989 ANAPC2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:26046517 20190710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:19596146 20091026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15102009 20130805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1733 CDK13 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33390186 20221103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_marker_for DOID:1928 Williams-Beuren syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:10533027 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:2973157 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1775 CDK5R1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28578378 20180907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19101982 20190528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21990318 20130903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:9743 diabetic neuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19276232 20090515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23642739 20141021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23632475 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32276600 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:21180278 20140909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1579 CCNB1 is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19608149 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20081107 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:4085 trophoblastic neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:12705339 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 is_marker_for DOID:14175 von Hippel-Lindau disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22299048 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22939953 20171208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32089413 20210215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32380498 20210215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:550 AOC3 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19336232 20091016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14310 BRD7 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24404152 20141001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:24493287 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:2913 acute pancreatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:27923687 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21087446 20120329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:943 ADGRB1 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23761815 20190107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21660493 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1570 CCKAR is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10457335 20100818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11393 AURKA is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16707419 20080620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11393 AURKA is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15754349 20080620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:56 ABCC5 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15688370 20100525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B is_marker_for DOID:557 kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14633620 20171013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:465 AMHR2 is_marker_for DOID:1967 leiomyosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17988723 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_marker_for DOID:1440 Machado-Joseph disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21478185 20120514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20656949 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20818377 20110711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3569 ACSL1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16788709 20070628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:9850345 20130201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:21041817 20130201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1095 BPI is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16563568 20120905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:15657124 20111107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16685269 20080703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18006009 20080703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3123 EBAG9 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11742495 20080214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3353 ENO2 is_marker_for DOID:1800 neuroendocrine carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15010880 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:35692390 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16896691 20080124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11054182 20170511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19741249 20150923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15010821 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 is_marker_for DOID:2799 bronchiolitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:20628341 20110114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26913609 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:7636313 20140625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3214 EEF2 is_marker_for DOID:3073 brain glioblastoma multiforme ECO:0000270 expression pattern evidence used in manual assertion PMID:24589652 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_marker_for DOID:0050083 Keshan disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26893848 20210323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:9001419 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28648905 20190425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1552 CBX2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35693827 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_marker_for DOID:543 dystonia ECO:0000270 expression pattern evidence used in manual assertion PMID:2953866 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18003958 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:12241 beta thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:6914868 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1470 CAMKK2 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:27012733 20180711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1725 CDC25A is_marker_for DOID:2101 vulva squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20500813 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19011933 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15725351 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:18496905 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:12733353 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:3757210 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3570 ACSL3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23512947 20181220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:17360781 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10609 CCL1 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17982926 20110112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3595 FAT1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29365412 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3364 ENTPD2 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15651265 20150114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28146 DLGAP1-AS2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33195697 20220624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19142888 20210826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28820634 20210826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29230817 20210826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23702820 20220208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:12526294 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17023034 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:13767 clonorchiasis ECO:0000270 expression pattern evidence used in manual assertion PMID:18427836 20100111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:18791688 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:5520 head and neck squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20604875 20210422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1078 BMPR2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18292470 20110330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1607 CCR6 is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:23192593 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31211449 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_marker_for DOID:1307 dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:2953866 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2991 DOK2 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27975172 20220512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16501670 20070507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_marker_for DOID:1390 hypobetalipoproteinemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16728468 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:69 ABCE1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21932399 20160330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17134822 20160126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_marker_for DOID:1094 attention deficit hyperactivity disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:21906006 20120124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:784 ATF2 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:10891039 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:18683034 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18037 ARID2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28498550 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18037 ARID2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32071245 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:9669 senile cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:23781296 20140825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19986 CYCS is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12095160 20170920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19761684 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4268 CBLIF is_marker_for DOID:10808 gastric ulcer ECO:0000270 expression pattern evidence used in manual assertion PMID:26485402 20160411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24190 CAMK2N1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30205384 20200117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 is_marker_for DOID:9810 polyarteritis nodosa ECO:0000270 expression pattern evidence used in manual assertion PMID:23470165 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29408335 20210610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2172 CNTN2 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24292748 20200805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1383 CA9 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17245699 20080521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16569639 20141021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP is_marker_for DOID:13580 cholestasis ECO:0000270 expression pattern evidence used in manual assertion PMID:29523470 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1693 CD68 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28656201 20210120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22168621 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31176165 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18079481 20130311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22515595 20130311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20112342 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29882245 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:429 ALOX12 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14654968 20100105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20500690 20110405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2654 CCN1 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:34031328 20230527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3214 EEF2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:1331687 20151006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11274632 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24548441 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17550373 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9834133 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1780 CDK9 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:15297879 20150213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20855355 20120831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17938 CALY is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:12622665 20200106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17938 CALY is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:16786528 20200106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32106377 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29408335 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:17385664 20130419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:8567024 20130419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:28042322 20180718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3380 EPB41L3 is_marker_for DOID:3565 meningioma ECO:0000270 expression pattern evidence used in manual assertion PMID:10888600 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:28266892 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21078314 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:417 autoimmune disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21169727 20111206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16890 CTDSPL is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22491060 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:2938 Epstein-Barr virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21602260 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14129 EHMT2 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24658378 20141112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20888745 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_marker_for DOID:12241 beta thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22705320 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 is_marker_for DOID:13139 crescentic glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:18846416 20130314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15717629 20080110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20495078 20110607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:10300 Raynaud disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17401513 20140829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15642486 20090505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17256744 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21593018 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:4926 bronchiolo-alveolar adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21419590 20110506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:9655 oral mucosa leukoplakia ECO:0000270 expression pattern evidence used in manual assertion PMID:18288488 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:9655 oral mucosa leukoplakia ECO:0000270 expression pattern evidence used in manual assertion PMID:29928356 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19615354 20090918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 is_marker_for DOID:3890 acute intermittent porphyria ECO:0000270 expression pattern evidence used in manual assertion PMID:23650938 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1508 CASP7 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:18785314 20111221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2300 CPB2 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:14983223 20091006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24224 CDK12 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31519701 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15183956 20100106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 is_marker_for DOID:0080745 polymyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:22394569 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28650518 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:10533 viral pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:20957032 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21354048 20121019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18056387 20110505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12118093 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26695082 20180103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:544 ANXA6 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30901224 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29096 ARHGAP44 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31136984 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:1115 sarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27982046 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:11555 Fuchs' endothelial dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:22956607 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14614020 20080703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16469638 20080703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_marker_for DOID:9206 Barrett's esophagus ECO:0000270 expression pattern evidence used in manual assertion PMID:22301112 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:1555 urticaria ECO:0000270 expression pattern evidence used in manual assertion PMID:21488867 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3512 EXT1 is_marker_for DOID:3371 chondrosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17226760 20170808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:215 ADAM8 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17979891 20100527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:1389 polyneuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:11134381 20120120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18008256 20101013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16772874 20180830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12633148 20180830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21520231 20150825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20978355 20191021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:28011329 20191021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10776430 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20431764 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33292020 20221103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15817070 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10873097 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_marker_for DOID:1115 sarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26428317 20171106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:349 AHSG is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:19029462 20091016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16973370 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:125 ACP3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16024648 20080924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:451 AMACR is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18343427 20100106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17671118 20140625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18693155 20110519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2603 CYP26A1 is_marker_for DOID:8866 actinic keratosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22179182 20180829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21014 ANTXR1 is_marker_for DOID:4948 gallbladder carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21545221 20141210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6210 CD82 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12079303 20080201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:3410 carotid artery thrombosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17969370 20091022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22392353 20210522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29040987 20210522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31374064 20210617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22022605 20120123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19240976 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16432373 20120125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_marker_for DOID:12466 secondary hyperparathyroidism ECO:0000270 expression pattern evidence used in manual assertion PMID:18398016 20130820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20350318 20111011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16952981 20160316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:12479587 20160316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15823283 20091016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1709 CD9 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2956 DNASE1 is_marker_for DOID:0060643 primary sclerosing cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28263100 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16456816 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22977534 20220427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1499 CASP1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11221855 20100114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24443257 20210604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21575522 20210604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21916917 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32360286 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32427582 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:31986264 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2158 CNP is_marker_for DOID:14018 alcoholic liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16205370 20120518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22914212 20180706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:705 Leber hereditary optic neuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18061280 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18440671 20101214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1605 CCR4 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19942450 20150810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12025227 20080110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22549618 20210422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:18635848 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1116 BSG is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17342307 20080623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1678 CD4 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17517104 20101105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18234280 20080626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17465220 20080220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7106 ATXN3 is_marker_for DOID:1440 Machado-Joseph disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9804376 20161104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_marker_for DOID:1580 diffuse scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:14730619 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17267327 20080804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:16263185 20070719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:14657873 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20656764 20120104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24366883 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:537 ANXA2 is_marker_for DOID:1350 paranasal sinus benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:20970165 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9508185 20091231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_marker_for DOID:540 strabismus ECO:0000270 expression pattern evidence used in manual assertion PMID:14710472 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:590 BIRC2 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18621506 20220814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1078 BMPR2 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19324947 20110330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:23192593 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10445603 20101021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6027 CXCR2 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12857718 20110715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:840 ATP5PB is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18932288 20190730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R is_marker_for DOID:0050590 severe congenital neutropenia ECO:0000270 expression pattern evidence used in manual assertion PMID:11110716 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1585 CCND3 is_marker_for DOID:2893 cervix carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14751136 20100121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17433060 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27067790 20180124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3214 EEF2 is_marker_for DOID:1996 rectum adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19360331 20220802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1585 CCND3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18317945 20100121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:823 ATP5F1A is_marker_for DOID:8725 vascular dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:24448401 20190726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:550 AOC3 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:12466139 20091016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10520855 20191120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1507 CASP6 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:31952546 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1692 CD63 is_marker_for DOID:9743 diabetic neuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:10547212 20091105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3590 FAP is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24789592 20220525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23612777 20130926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21086905 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20823226 20140715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11161003 20110225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16793965 20070601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:0050169 cutaneous lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:21844117 20120815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:48633 AGAP2-AS1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28617550 20190121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:651 AREG is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:8543395 20080430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16734726 20210415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_marker_for DOID:10320 asbestosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20514434 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1371 CA12 is_marker_for DOID:5015 fibrolamellar carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28304380 20220915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17700 CCL28 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20161852 20110209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:465 AMHR2 is_marker_for DOID:4441 dysgerminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17988723 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21316665 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1479 CAPN2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9654354 20180919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2363 CRKL is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16391854 20131204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22669512 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1131 BTG2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14996721 20080118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15158621 20140825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:20394549 20140825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2654 CCN1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:30045012 20230524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:20482449 20121019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30251 BAMBI is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20716422 20190221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10398166 20190812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:4247 coronary restenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14578618 20090709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18383361 20110203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1726 CDC25B is_marker_for DOID:2101 vulva squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20500813 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 is_marker_for DOID:2870 endometrial adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17295646 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2545 CTSS is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21143385 20120201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 is_marker_for DOID:417 autoimmune disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17880769 20090715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1637 CD1D is_marker_for DOID:1394 urinary schistosomiasis ECO:0000270 expression pattern evidence used in manual assertion PMID:22347409 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:545 ANXA7 is_marker_for DOID:4159 skin cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17708571 20080429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18790652 20110120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3072 DUSP6 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12618338 20131218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22393 BRINP3 is_marker_for DOID:1474 aggressive periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20383335 20190422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:9182 pemphigus ECO:0000270 expression pattern evidence used in manual assertion PMID:17531537 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:3502064 20111025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:26893848 20210323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3214 EEF2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24589652 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:169 ACTR2 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:37731513 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27661126 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31565100 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18676753 20171016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:2352345 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17620002 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20704746 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16304252 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17182012 20120123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19989 ANAPC2 is_marker_for DOID:5386 lung adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14647414 20190711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10617 CCL19 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12626344 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:31028191 20231212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9537339 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9761079 20140912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19703829 20110117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12725419 20080218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:21652096 20120711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:940 BAG4 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10799310 20100611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21303360 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31217522 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_marker_for DOID:1037 lymphoid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:25030442 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:936 brain disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23149357 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:8568 infectious mononucleosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11185989 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22366088 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17194635 20090708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2535 CTSH is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15183956 20120120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:21143859 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30697077 20190528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18837082 20190528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:792 ATF7 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26148593 20170918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:18050371 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16353080 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31885720 20220808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:15517379 20070416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:10528607 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15795541 20160630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31615563 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16536758 20130820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22204709 20130820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:9642160 20110805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20203292 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:494 ANK3 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:21893642 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18069416 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17557032 20090917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20133931 20120710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_marker_for DOID:0080301 atypical hemolytic-uremic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9811382 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25472877 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3214 EEF2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24377563 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:380 AKR1A1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30727821 20200521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17098 DICER1 is_marker_for DOID:0050745 diffuse large B-cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25195038 20210716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1593 CCNG2 is_marker_for DOID:11934 head and neck cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27982046 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10384061 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_marker_for DOID:1799 islet cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:24148618 20140925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:21920897 20120711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13723 CTCF is_marker_for DOID:0050671 female breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32435142 20220211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31514071 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1477 CAPN10 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19688040 20100714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17803693 20090514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16014397 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23029358 20191115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28551630 20191115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9496256 20080213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18173 ERAP1 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15741767 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:10887 lepromatous leprosy ECO:0000270 expression pattern evidence used in manual assertion PMID:22851198 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:10887 lepromatous leprosy ECO:0000270 expression pattern evidence used in manual assertion PMID:28355218 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11393 AURKA is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16311121 20080619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 is_marker_for DOID:1350 paranasal sinus benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:20970165 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16041 EMCN is_marker_for DOID:3963 thyroid gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32626543 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3590 FAP is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29415055 20220525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8879222 20170511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:784 ATF2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15878807 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:784 ATF2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9138733 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30523154 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26078356 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17391779 20070719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 is_marker_for DOID:1390 hypobetalipoproteinemia ECO:0000270 expression pattern evidence used in manual assertion PMID:2242096 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17908481 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1589 CCNE1 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18301453 20080624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27478330 20171103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19220210 20110519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20976171 20110915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_marker_for DOID:11650 bronchopulmonary dysplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:20050784 20110422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24494798 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11809809 20220208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:23396398 20130513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19213775 20110428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24097870 20210416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_marker_for DOID:10762 portal hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:2777210 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3123 EBAG9 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:17845206 20080214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1607 CCR6 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:10843722 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20726330 20130802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:651 AREG is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:14716741 20080430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_marker_for DOID:769 neuroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18591367 20091026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_marker_for DOID:0080797 nasal type extranodal NK/T-cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18756548 20140530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23819605 20141021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9863491 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15946135 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:17572488 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:0050782 Zollinger-Ellison syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:908508 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:20966041 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:386 AKR1C3 is_marker_for DOID:0080909 castration-resistant prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23196782 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:262 ADORA1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16507638 20070605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24548441 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:23460287 20130819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1736 CDC42 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28181096 20171116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31211449 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:386 AKR1C3 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16735089 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:27070757 20180821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15817881 20091106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16752185 20091106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1458 CALU is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:35692390 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11939591 20150925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1662 CD34 is_marker_for DOID:3963 thyroid gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32626543 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23543735 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12237873 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 is_marker_for DOID:6498 seborrheic keratosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8919037 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16816 CHD5 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26517514 20210412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19925666 20101102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:438 ALPL is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17010978 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23423258 20220914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19691460 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16932912 20080219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1700 CD80 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19729666 20110603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_marker_for DOID:1240 leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19075187 20110505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:11123 Henoch-Schoenlein purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:25839768 20160815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2654 CCN1 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:22160564 20230527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7605592 20120426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1602 CCR1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14595653 20120220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:2803327 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:995 BCL2L2 is_marker_for DOID:8584 Burkitt lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28094768 20190326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1885 CGA is_marker_for DOID:2696 Leydig cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:16007123 20080610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21489990 20110509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3119 E2F5 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33390186 20221103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:10754 otitis media ECO:0000270 expression pattern evidence used in manual assertion PMID:7724300 20140909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:51 ABCC1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12930913 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1820 CEACAM8 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2603 CYP26A1 is_marker_for DOID:7941 Barrett's adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18059332 20180829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 is_marker_for DOID:9498 pulmonary eosinophilia ECO:0000270 expression pattern evidence used in manual assertion PMID:11956056 20101110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:389 AKR7A2 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19077459 20190211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31514071 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18945923 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17714589 20080205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:705 ARPC2 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25107436 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:0080941 acquired angioedema ECO:0000270 expression pattern evidence used in manual assertion PMID:9129025 20161118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19367387 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1725 CDC25A is_marker_for DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22155366 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:727 ARTN is_marker_for DOID:12689 acoustic neuroma ECO:0000270 expression pattern evidence used in manual assertion PMID:19937367 20140515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29254206 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25782334 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15375495 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21102591 20120928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_marker_for DOID:10459 common cold ECO:0000270 expression pattern evidence used in manual assertion PMID:11865407 20101217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:950 BAP1 is_marker_for DOID:4928 intrahepatic cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27864835 20210823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:28834779 20191104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:0080821 exercise-induced bronchoconstriction ECO:0000270 expression pattern evidence used in manual assertion PMID:19996575 20110127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_marker_for DOID:0050912 colon adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11809809 20220208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:5041 esophageal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14760115 20220502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9010448 20080715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1371 CA12 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27688658 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:993 BCL2L10 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:27455953 20190304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18237448 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1460 CAMK2A is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15621017 20180712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:14735 hereditary angioedema ECO:0000270 expression pattern evidence used in manual assertion PMID:9129025 20161118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:3753 Hermansky-Pudlak syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19729668 20110117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:3347 osteosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21283769 20110510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19050968 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31725767 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16393 CARD11 is_marker_for DOID:5603 T-cell acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:25384343 20160614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12866378 20080122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:616 APOH is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:6613192 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:646 ARAF is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:27852048 20180718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22214847 20141008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8138195 20220610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11390 AURKB is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16311121 20080619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1605 CCR4 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19942450 20150810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1605 CCR4 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:25430645 20150810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1542 CBLB is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29384143 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27578115 20190703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:9146 visceral leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:15379987 20120824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18274 CYSLTR2 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16689996 20101117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_marker_for DOID:437 myasthenia gravis ECO:0000270 expression pattern evidence used in manual assertion PMID:15661863 20111026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1383 CA9 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14520462 20080521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17505508 20071231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2303 CPE is_marker_for DOID:11981 morbid obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:12530526 20070720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2654 CCN1 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:28035364 20230525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2654 CCN1 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:25061178 20230525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:12689 acoustic neuroma ECO:0000270 expression pattern evidence used in manual assertion PMID:19937367 20140515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13221 BCL11A is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23758992 20160609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:437 myasthenia gravis ECO:0000270 expression pattern evidence used in manual assertion PMID:15843529 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB is_marker_for DOID:0050855 renal fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22568654 20160314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:10328528 20150924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6026 CXCR1 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20649681 20130211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22020632 20121008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20448019 20130308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11274632 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9751261 20180102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:2224 essential thrombocythemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8555064 20160321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21742595 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:9282 ocular hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16677633 20110404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20727007 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22213409 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17681738 20071228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18604718 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:14018 alcoholic liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22441510 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:23576984 20150721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:27411924 20220527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:20367952 20101116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1693 CD68 is_marker_for DOID:11429 endometriosis of pelvic peritoneum ECO:0000270 expression pattern evidence used in manual assertion PMID:19136478 20210122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1073 BMP6 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22364398 20130404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13273 DUOX2 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19759286 20210115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24625449 20141107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1777 CDK6 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27874949 20180103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:817 ATP2B4 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19075187 20110505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:21210148 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:590 BIRC2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20967871 20220716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2015 CLCA1 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15218996 20101111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_marker_for DOID:9246 cerebral amyloid angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:21107133 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:0050873 follicular lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:3287162 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:5162 arteriolosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22863782 20121205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19120316 20100112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10609 CCL1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20455898 20110112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17059779 20080130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:321 tropical spastic paraparesis ECO:0000270 expression pattern evidence used in manual assertion PMID:26800845 20201020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3227 EFNB2 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23631129 20220810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2363 CRKL is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23686806 20131204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12712358 20140326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27246604 20191025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32434211 20200624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1593 CCNG2 is_marker_for DOID:1993 rectum cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27982046 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13203 AICDA is_marker_for DOID:0050211 swine influenza ECO:0000270 expression pattern evidence used in manual assertion PMID:22281510 20200629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13203 AICDA is_marker_for DOID:0050211 swine influenza ECO:0000270 expression pattern evidence used in manual assertion PMID:23028320 20200629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17850375 20080507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:8997 polycythemia vera ECO:0000270 expression pattern evidence used in manual assertion PMID:8555064 20160321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3594 FASN is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32525817 20220908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24366883 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:3457 invasive lobular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12203362 20080123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:10603 glucose intolerance ECO:0000270 expression pattern evidence used in manual assertion PMID:16306328 20090518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:28129465 20201123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15885882 20141031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7477348 20111025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11526104 20200804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15907478 20200804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:1677459 20200804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12107344 20080527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1722 CDK1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17956886 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16647953 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23632475 20210906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:10461474 20110225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18057064 20110505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19220836 20110505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19693657 20110217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:17392495 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20203292 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:12842 Guillain-Barre syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12507779 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20040 CAP1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19188911 20100701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2770 DES is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:29556622 20180508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:13767 clonorchiasis ECO:0000270 expression pattern evidence used in manual assertion PMID:18427836 20100111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3049 DSG2 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:34245117 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16465411 20190528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:17107989 20110422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_marker_for DOID:12241 beta thalassemia ECO:0000270 expression pattern evidence used in manual assertion PMID:9180253 20160729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1937 CHKA is_marker_for DOID:0050912 colon adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10363580 20151013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3393 EPHB2 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23314923 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:12836058 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21833453 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30901224 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16533773 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:706 ARPC3 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:26504501 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3226 EFNB1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12136247 20220811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3437 ERCC5 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10910954 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19189 DOCK6 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:34742001 20221220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:9463 otitis externa ECO:0000270 expression pattern evidence used in manual assertion PMID:22032882 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:92 ACADVL is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25260493 20150709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_marker_for DOID:1240 leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:17306074 20141021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2357 CRHR1 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17597629 20110415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15289361 20100628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:31189495 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11547943 20120621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:15657124 20111107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:14735 hereditary angioedema ECO:0000270 expression pattern evidence used in manual assertion PMID:9129025 20161118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:0050185 erythema multiforme ECO:0000270 expression pattern evidence used in manual assertion PMID:18050371 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20562228 20110217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24470 ANKRD23 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:15238456 20091201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:457 AMD1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30397274 20190218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 is_marker_for DOID:2893 cervix carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24737201 20210303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25391381 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2873 CYB5R3 is_marker_for DOID:0060076 estrogen-receptor negative breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26351264 20160310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 is_marker_for DOID:824 periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18454663 20090423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3214 EEF2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24589652 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10638 CXCL11 is_marker_for DOID:2799 bronchiolitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:12097412 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31213911 20210416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22354764 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1727 CDC25C is_marker_for DOID:0080365 endometrial hyperplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:12931023 20100706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:8691 mycosis fungoides ECO:0000270 expression pattern evidence used in manual assertion PMID:23702390 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20822 ADGRL4 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23096411 20190108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:22323911 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18852253 20130103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21822023 20130520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:3429 inclusion body myositis ECO:0000270 expression pattern evidence used in manual assertion PMID:15772970 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:0050120 hemophagocytic lymphohistiocytosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15613100 20210630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17975205 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2605 CYP27A1 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28774887 20191218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3573 FADD is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16085017 20180910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:14510109 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31027316 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9500468 20180709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21356099 20110505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:11612 polycystic ovary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16868149 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:19672057 20150731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3587 FANCF is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17409780 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2746 DDX5 is_marker_for DOID:3151 skin squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22548649 20150403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17999785 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16533773 20210829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23437304 20210829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_marker_for DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20555320 20130214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:10806043 20070810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21197091 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21219690 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:651 AREG is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11507076 20080430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22449478 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1963 CHRNB3 is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:28420875 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:32529396 20230412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30214616 20210412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14129 EHMT2 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24805087 20141112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:3371 chondrosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12598313 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30464518 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19691460 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1338 C5AR1 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18538384 20110405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8666063 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1736 CDC42 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19432938 20120223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:1307 dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:22213409 20120120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_marker_for DOID:2738 pseudoxanthoma elasticum ECO:0000270 expression pattern evidence used in manual assertion PMID:7524808 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24038143 20141103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:550 AOC3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17393059 20091027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_marker_for DOID:12449 aplastic anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21234821 20160801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:23948411 20160225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:2987 familial mediterranean fever ECO:0000270 expression pattern evidence used in manual assertion PMID:22135646 20140908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27221867 20220610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23393 CARM1 is_marker_for DOID:0060075 estrogen-receptor positive breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23887673 20141002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:10952 nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:24414608 20160815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1964 CHRNB4 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27610024 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13702 BIRC7 is_marker_for DOID:0050860 colorectal adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21122381 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:25982455 20160809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:11465708 20110126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19904262 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1863 CES1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24259486 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1863 CES1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19658107 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1863 CES1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30901224 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18274 CYSLTR2 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:18490405 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19178538 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18957531 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18301453 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1848 CEL is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:9536927 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17924141 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:4914 esophagus adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30187205 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16014397 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1911 CHAF1B is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20178651 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27895854 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:399 tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19281538 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16315781 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:21492463 20110506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1503 CASP2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12633148 20180830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17432 CHIA is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19379605 20110303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:824 periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22523383 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:0050830 peripheral artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21314441 20120426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1964 CHRNB4 is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20124469 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3557 FABP3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15068254 20150121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1833 CEBPA is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:14769913 20151005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16921 AGAP2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19176382 20190121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1693 CD68 is_marker_for DOID:0050523 adult T-cell leukemia/lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23557330 20210225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:13544 low tension glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19861219 20140519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26611644 20220512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15978137 20220512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3353 ENO2 is_marker_for DOID:12783 migraine without aura ECO:0000270 expression pattern evidence used in manual assertion PMID:21293918 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17565840 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25679 ATG101 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:34315829 20220907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:8763426 20140306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_marker_for DOID:5394 prolactinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12552124 20080115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17928013 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1693 CD68 is_marker_for DOID:3965 Merkel cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22050913 20210121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:349 AHSG is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18633113 20091016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21744 CPEB1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:26627607 20191107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18670462 20091020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_marker_for DOID:10211 cholelithiasis ECO:0000270 expression pattern evidence used in manual assertion PMID:12184527 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3443 EREG is_marker_for DOID:869 cholesteatoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24256036 20201006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3212 EEF1E1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21789020 20151002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:20513078 20210215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2460 CSNK2B is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25327614 20161129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11451295 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13203 AICDA is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19759560 20160303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:25209900 20161216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:0060903 thrombosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15306157 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2300 CPB2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:11836301 20091006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:3713 ovary adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16180015 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1607 CCR6 is_marker_for DOID:0050486 exanthem ECO:0000270 expression pattern evidence used in manual assertion PMID:18384452 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:2297 leptospirosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18171258 20201124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:2297 leptospirosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20002620 20201124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17925429 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19229703 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20937307 20141103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16180015 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:6039 uveal melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23057648 20140916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:2198188 20101018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:11100 Q fever ECO:0000270 expression pattern evidence used in manual assertion PMID:9255891 20110321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19472039 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9655469 20120604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15005786 20160815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:25536643 20210907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:32448590 20201116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27573434 20190114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12650514 20190114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:545 ANXA7 is_marker_for DOID:0060060 non-Hodgkin lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17708571 20080429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 is_marker_for DOID:10762 portal hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:24337852 20180221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20187128 20120516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31956372 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31632490 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3227 EFNB2 is_marker_for DOID:799 varicose veins ECO:0000270 expression pattern evidence used in manual assertion PMID:26808710 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:8683 myeloid sarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20582977 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:349 AHSG is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:12153747 20091016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12372886 20180531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_marker_for DOID:4556 lung large cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20124469 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28599487 20211027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:20937997 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:104 bacterial infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23937512 20140917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:453 AMBP is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:14621078 20121010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11222358 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18301453 20080624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:13922 eosinophilic esophagitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22331014 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28933597 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19508551 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31511084 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1839 ADA2 is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8656037 20220609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:0050589 inflammatory bowel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18849144 20120127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19887833 20091110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23585551 20130911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11222358 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 is_marker_for DOID:0060180 colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28423665 20201023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19989 ANAPC2 is_marker_for DOID:1405 primary angle-closure glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29332228 20190710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23861893 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1463 CAMK2G is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12937144 20180718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25981880 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_marker_for DOID:0050083 Keshan disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26893848 20210323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15619210 20190617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 is_marker_for DOID:2559 opiate dependence ECO:0000270 expression pattern evidence used in manual assertion PMID:14969742 20231211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11673832 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:11159352 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17785358 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18000605 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15860378 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19816001 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19565490 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21427490 20120815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2767 DEFB4A is_marker_for DOID:12120 pulmonary alveolar proteinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17000097 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:816 ATP2B3 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:13580 cholestasis ECO:0000270 expression pattern evidence used in manual assertion PMID:6431134 20160216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1974 CHUK is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16774932 20220810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30214616 20210412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26681199 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3115 E2F3 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:28337965 20180718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15469929 20120227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:616 APOH is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18695102 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:616 APOH is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:9377806 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3212 EEF1E1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21789020 20151002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18525 CYS1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28035468 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_marker_for DOID:3319 lymphangioleiomyomatosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18285421 20110218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20133813 20110920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:21356120 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:0050012 chikungunya ECO:0000270 expression pattern evidence used in manual assertion PMID:31365117 20210122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1391 CACNA1D is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:23229155 20180207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30580964 20200326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_marker_for DOID:7596 asbestos-related lung carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20544843 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20143644 20110405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:12628841 20080507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_marker_for DOID:8534 gastroesophageal reflux disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17900656 20160527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19292061 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15962 CBX8 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24260522 20141014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:2942 bronchiolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21284715 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_marker_for DOID:11132 prostatic hypertrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:25546515 20161130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27993894 20220908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22625427 20220908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:1067 open-angle glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23860758 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:2799 bronchiolitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:12097412 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_marker_for DOID:0050827 rheumatic heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30261069 20210216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21297956 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:225 ADAR is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28109322 20210402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17311011 20080109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:2048 autoimmune hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19301087 20120127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_marker_for DOID:11204 allergic conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:11090473 20120604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21907175 20131220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20421545 20180529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31781094 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:607 APOC1 is_marker_for DOID:3717 gastric adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21267442 20220831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20794 ERCC6L is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31289493 20221019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14685 F11R is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:19153103 20131205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_marker_for DOID:8997 polycythemia vera ECO:0000270 expression pattern evidence used in manual assertion PMID:9207443 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:2799 bronchiolitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:12097412 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:785 ATF3 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20856677 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29218250 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16942942 20070716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:11729 Lyme disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23371320 20131204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:1206 Rett syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18710461 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20379753 20220610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:4468 clear cell adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24375438 20141008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:616 APOH is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:16080911 20150729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1706 CD8A is_marker_for DOID:0050185 erythema multiforme ECO:0000270 expression pattern evidence used in manual assertion PMID:32433748 20210324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:10500800 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:9711907 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:380 AKR1A1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25526449 20200521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16519147 20080111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_marker_for DOID:13580 cholestasis ECO:0000270 expression pattern evidence used in manual assertion PMID:15057744 20160524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 is_marker_for DOID:0050559 Fukuyama congenital muscular dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:11445638 20161005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:12534643 20091008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20398646 20100604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27793774 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28586035 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14648971 20140918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:2913 acute pancreatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26339412 20210727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1383 CA9 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29900055 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19218194 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19017998 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:27051591 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:17822317 20160811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15857400 20080220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:576 proteinuria ECO:0000270 expression pattern evidence used in manual assertion PMID:8677191 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18000820 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1589 CCNE1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18047954 20080624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1589 CCNE1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16739882 20080624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:13955 uterus interstitial leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16962107 20080110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_marker_for DOID:10824 malignant hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15284680 20070601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3537 F2R is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:12161502 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32850446 20210506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15469929 20110511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:12417540 20091023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:11512 Budd-Chiari syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21145806 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:195 ADAM17 is_marker_for DOID:0050855 renal fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22015440 20180801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9714461 20120302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11948124 20110517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10445603 20101021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:745 ASIP is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:14633851 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16052530 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_marker_for DOID:0050784 primary progressive multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20122907 20120208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:22924482 20131217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:1555 urticaria ECO:0000270 expression pattern evidence used in manual assertion PMID:22348297 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21014 ANTXR1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17016666 20141210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:943 ADGRB1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11172604 20190107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19081814 20120117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:317 AFP is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:1714107 20080409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_marker_for DOID:5520 head and neck squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24556606 20210923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 is_marker_for DOID:12134 factor VIII deficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:6912882 20160322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12771989 20211209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10635 CCL8 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20970515 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32106377 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29408335 20210616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:640 encephalomyelitis ECO:0000270 expression pattern evidence used in manual assertion PMID:1402029 20120426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1338 C5AR1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12759460 20110407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21285114 20111202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 is_marker_for DOID:11723 Duchenne muscular dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:11445638 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 is_marker_for DOID:11723 Duchenne muscular dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:7630355 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22365076 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1727 CDC25C is_marker_for DOID:2101 vulva squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20500813 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1726 CDC25B is_marker_for DOID:0080365 endometrial hyperplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:14559803 20100706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1539 CBFB is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17094378 20210406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18177927 20080804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6210 CD82 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15642213 20080201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18026571 20101105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19773751 20210415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20124469 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:4010093 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8076377 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:5425 ovarian hyperstimulation syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12695751 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14310 BRD7 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24404152 20141001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13273 DUOX2 is_marker_for DOID:1498 cholera ECO:0000270 expression pattern evidence used in manual assertion PMID:29133347 20210121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6210 CD82 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15958618 20080201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13628 CACNG8 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:26710323 20180420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:17727310 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:221 ADAMTS5 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:11801682 20150513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:0050127 sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19153309 20110715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_marker_for DOID:934 viral infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23376460 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:328 AGR2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16598187 20100604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1515 CAST is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11264179 20111104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24205 CAPZA3 is_marker_for DOID:12336 male infertility ECO:0000270 expression pattern evidence used in manual assertion PMID:27114798 20200123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27015 CMPK2 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20136355 20110609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_marker_for DOID:224 transient cerebral ischemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19440222 20170727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17151862 20150813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19735876 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:6827 pancreatic solid pseudopapillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19248223 20171208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11390 AURKB is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16707419 20080619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:437 myasthenia gravis ECO:0000270 expression pattern evidence used in manual assertion PMID:15843529 20061201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21285114 20140129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:19615053 20140129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21049277 20140129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17543076 20071231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15082146 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:2755 Mycobacterium avium complex disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19641295 20120127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12162767 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:8814351 20100408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11410409 20160725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:437 ALPI is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22783049 20190213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16393673 20110506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19017998 20101111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:22761461 20130514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:21907175 20131220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15770052 20191021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22648712 20120905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1441 CALD1 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:35692390 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11673832 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:4531 mucoepidermoid carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28772134 20220422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:9743 diabetic neuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:10468085 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1602 CCR1 is_marker_for DOID:9246 cerebral amyloid angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:14595653 20120220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20167810 20180710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17182012 20120123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19458615 20160325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19216096 20090917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_marker_for DOID:824 periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28285126 20181026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32271408 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:0050073 invasive aspergillosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17298426 20110725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:21914058 20111201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:11021835 20110517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ECO:0000270 expression pattern evidence used in manual assertion PMID:27544389 20220425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27737687 20220715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20959404 20220715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15131578 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:32245981 20231107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21789720 20120124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_marker_for DOID:4989 pancreatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20127414 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15885882 20141031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:429 ALOX12 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19282568 20100105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16215274 20100409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:646 viral encephalitis ECO:0000270 expression pattern evidence used in manual assertion PMID:11896158 20150925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 is_marker_for DOID:9620 vesicoureteral reflux ECO:0000270 expression pattern evidence used in manual assertion PMID:12110011 20130826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:10772 thrombotic thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:7529543 20160321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3560 FABP5 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:16283139 20150121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:170 ACTR3 is_marker_for DOID:4948 gallbladder carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23320827 20161221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3012 DPYD is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20072795 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3471 ESRRA is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:21825219 20151009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20588001 20101021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:687 hepatoblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27974108 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16533530 20160622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22761470 20171117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:607 APOC1 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15876873 20100610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24127697 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:12580917 20110428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:12813022 20100916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:0080750 erythema nodosum ECO:0000270 expression pattern evidence used in manual assertion PMID:2783924 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27982046 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:30004237 20180831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2254 CORO1C is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:35692390 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 is_marker_for DOID:0080177 hepatic veno-occlusive disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12040478 20151215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2457 CSNK2A1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11827167 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:934 BACE2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22074738 20180827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:1168 familial hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21485068 20110920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:2722 acrodermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17606602 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 is_marker_for DOID:1312 focal segmental glomerulosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17684420 20130315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2766 DEFB1 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17000097 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22421709 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15747581 20080124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2952 DNAH8 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:17400294 20140911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:4617 periapical granuloma ECO:0000270 expression pattern evidence used in manual assertion PMID:16101967 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_marker_for DOID:2452 thrombophilia ECO:0000270 expression pattern evidence used in manual assertion PMID:23042280 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:590 BIRC2 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16504151 20080111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20080081 20110408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:9495297 20180723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:11394 adult respiratory distress syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:8810593 20110715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2336 CR2 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8442917 20210706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12124825 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17363521 20080701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16426728 20080701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13723 CTCF is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15354217 20220216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10623 CCL24 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17982926 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:1911 endodermal sinus tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:16822086 20080725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:537 ANXA2 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16450333 20100608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:537 ANXA2 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19260470 20100608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25568 FANCI is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17409780 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:0050589 inflammatory bowel disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20629092 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:19684010 20150721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1065 BLZF1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26342799 20190416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2499 CTF1 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15716706 20070806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3423 EPX is_marker_for DOID:9415 allergic asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:11846868 20180221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:19539088 20091110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:15608300 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20030671 20110505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:20529344 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17451 CYSLTR1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16123393 20101118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12472667 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19989 ANAPC2 is_marker_for DOID:12449 aplastic anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:28968996 20190710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2983 DNTT is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:7020399 20140725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12528117 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:15526056 20110204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:16752182 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18683 EIF4A3 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15796914 20150610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10638 CXCL11 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17925429 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17902144 20100826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:352 AIF1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16340083 20090908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1131 BTG2 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:11470758 20080118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2726 DDIT3 is_marker_for DOID:5453 pulmonary venoocclusive disease ECO:0000270 expression pattern evidence used in manual assertion PMID:32209028 20200901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19715610 20101105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2046 CLDN4 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15693851 20100412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:1727 retinal vein occlusion ECO:0000270 expression pattern evidence used in manual assertion PMID:6720266 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_marker_for DOID:0050700 cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:20375365 20130926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23702648 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:3121 gallbladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33591948 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10197541 20170919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:0050175 tick-borne encephalitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16463218 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:1040 chronic lymphocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:9450802 20160804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9714461 20120302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11593395 20080701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:700 ARNT is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16096055 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_marker_for DOID:12351 alcoholic hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:1670041 20120228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17098 DICER1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24649159 20210714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:0050523 adult T-cell leukemia/lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23557330 20210225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:167 ACTR1A is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11829462 20181227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:1790 malignant mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:17952507 20220613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2903 DLG4 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24156266 20180920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:29137225 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9507158 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:11168 anogenital venereal wart ECO:0000270 expression pattern evidence used in manual assertion PMID:23754510 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21806828 20140912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29323162 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:1389 polyneuropathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19589605 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21087446 20120329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21285114 20111202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:934 BACE2 is_marker_for DOID:9255 frontotemporal dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:22074738 20180827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:83 cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:12567748 20090630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16757 DGCR5 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22202438 20160428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19222940 20160310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6027 CXCR2 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17634442 20130830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17081533 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:25216797 20160809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:1287 cardiovascular system disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21569504 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:6088 acute stress disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:19628221 20140918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1709 CD9 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17393117 20100629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:6683982 20160217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1570 CCKAR is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12851875 20100818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1570 CCKAR is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9239407 20100818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1553 CBX3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18436254 20141006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20167860 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:14089 root caries ECO:0000270 expression pattern evidence used in manual assertion PMID:17959907 20160216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:18480670 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:5759 sebaceous gland neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:12354803 20140625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18444130 20080506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17575222 20080506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19565490 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19816001 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23569343 20210520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1693 CD68 is_marker_for DOID:8567 Hodgkin's lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21071500 20210125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1693 CD68 is_marker_for DOID:8567 Hodgkin's lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23045593 20210125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:21864931 20141107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:0050523 adult T-cell leukemia/lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27418641 20210219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33428598 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24451080 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:26296754 20201028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27246604 20191025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:17983873 20101102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23979166 20170830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18227733 20170830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21731723 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:9409 diabetes insipidus ECO:0000270 expression pattern evidence used in manual assertion PMID:9661594 20130201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23059 BCAN is_marker_for DOID:10584 retinitis pigmentosa ECO:0000270 expression pattern evidence used in manual assertion PMID:29150673 20190301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_marker_for DOID:2999 granulosa cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:12203782 20080627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14987 ASAP3 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28502111 20220809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:6171 uterine carcinosarcoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16803529 20080626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2770 DES is_marker_for DOID:988 mitral valve prolapse ECO:0000270 expression pattern evidence used in manual assertion PMID:27464577 20180508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1105 BRDT is_marker_for DOID:14227 azoospermia ECO:0000270 expression pattern evidence used in manual assertion PMID:22035730 20140930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1885 CGA is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12180238 20080610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20555320 20121214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3562 FABP7 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15827123 20150121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17626754 20071231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1116 BSG is_marker_for DOID:3007 breast ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9154157 20080118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:12132 granulomatosis with polyangiitis ECO:0000270 expression pattern evidence used in manual assertion PMID:11529927 20120828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:12132 granulomatosis with polyangiitis ECO:0000270 expression pattern evidence used in manual assertion PMID:12716450 20120828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32351880 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 is_marker_for DOID:13375 temporal arteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:9844760 20160414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3218 EFEMP1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23936443 20151007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1476 CAPN1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11231011 20180919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1476 CAPN1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8622780 20180919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_marker_for DOID:9597 Krukenberg carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16124061 20080130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:784 ATF2 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15878807 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:170 ACTR3 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14990971 20161220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:15465084 20150216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:704 ARPC1B is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:15098003 20161221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16625237 20070601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:17970779 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:10873 Kuhnt-Junius degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:22789920 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:32630589 20230922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:83 cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:12658358 20100121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1471 CAMLG is_marker_for DOID:8692 myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:12031912 20100201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1605 CCR4 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28086903 20200807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:0111144 preterm premature rupture of the membranes ECO:0000270 expression pattern evidence used in manual assertion PMID:19012190 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11809809 20220208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19484671 20101213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1458 CALU is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18776587 20100201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:9607404 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:12134 factor VIII deficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:6912882 20160322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8990132 20150722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16341149 20071228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:704 ARPC1B is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26138391 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_marker_for DOID:169 neuroendocrine tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:23954140 20141021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1885 CGA is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11687975 20080610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:0050855 renal fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10504496 20140205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:32682061 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:22871339 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15668790 20170918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2210 COL5A2 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:37731513 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20697673 20171114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1131 BTG2 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16849553 20080118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2638 CYP3A5 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:19650988 20160722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16962107 20080507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28904 AIF1L is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30233209 20190129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21528 DIABLO is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16231180 20171004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14347 BCAS3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16855396 20100428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16249511 20090518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18978347 20090518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16664 CAPN14 is_marker_for DOID:13922 eosinophilic esophagitis ECO:0000270 expression pattern evidence used in manual assertion PMID:25017104 20160614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:11555 Fuchs' endothelial dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:18378577 20140808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1593 CCNG2 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27982046 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18180 CALML5 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11470324 20180911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9834133 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_marker_for DOID:12351 alcoholic hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:33173221 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3353 ENO2 is_marker_for DOID:936 brain disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20847541 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2766 DEFB1 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:17000097 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11497291 20210521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:11339 pneumocystosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20618689 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:24429361 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19212105 20100525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:1407 anterior uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:6610667 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:8366982 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17952758 20080624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21585620 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:612 APOD is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15369805 20090629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:0080390 nephrotic syndrome type 1 ECO:0000270 expression pattern evidence used in manual assertion PMID:9892814 20130731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:2797 idiopathic interstitial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:16085216 20110718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:2797 idiopathic interstitial pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:18432520 20110718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_marker_for DOID:9470 bacterial meningitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16948860 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9166545 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:11713 diabetic angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16371118 20091023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:11713 diabetic angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:9285207 20091023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3363 ENTPD1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:17469012 20150109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16364297 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12180795 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14247 ATP5MG is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28474567 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3123 EBAG9 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16112176 20080214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19153340 20140506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1555 CBX5 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18436254 20141006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11393 AURKA is_marker_for DOID:2152 ovary epithelial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18314619 20080618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17878891 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:10584 retinitis pigmentosa ECO:0000270 expression pattern evidence used in manual assertion PMID:20005906 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1706 CD8A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30106451 20210324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1706 CD8A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29915957 20210324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1700 CD80 is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21310664 20120917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18342927 20080506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:953 BARHL1 is_marker_for DOID:0060081 triple-receptor negative breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28956815 20190225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20292 CAB39 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28197410 20190503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:0060284 paroxysmal nocturnal hemoglobinuria ECO:0000270 expression pattern evidence used in manual assertion PMID:22206707 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:25561225 20220909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:24989688 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:9002300 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:12842 Guillain-Barre syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11134381 20120120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:817 ATP2B4 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1116 BSG is_marker_for DOID:5744 ovary serous adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16633062 20080118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:328 AGR2 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19609859 20100604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2545 CTSS is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:18635848 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14310 BRD7 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23215825 20141001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1542 CBLB is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20038312 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 is_marker_for DOID:9279 hyperhomocysteinemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11950713 20110715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:20660932 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:814 ATP2B1 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24468746 20140925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_marker_for DOID:11963 esophagitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17570215 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21496341 20130305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:18825489 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31615563 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_marker_for DOID:934 viral infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18579545 20110419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:2475 chronic conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:9990333 20140623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:22505539 20130801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20497022 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2654 CCN1 is_marker_for DOID:2725 capillary hemangioma ECO:0000270 expression pattern evidence used in manual assertion PMID:33587560 20230524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16379602 20110204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:0080810 acute asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:30059697 20210122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18385799 20090515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3583 FANCB is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17409780 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:814 ATP2B1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17713660 20110222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:13641 exfoliation syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15031170 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:0050912 colon adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11375949 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9973223 20101021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15630447 20090423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:182 calcinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18256879 20080219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25679 ATG101 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:35592424 20220907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1508 CASP7 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12633148 20180830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 is_marker_for DOID:5241 hemangioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27388534 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19080468 20101025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_marker_for DOID:14004 thoracic aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:29137225 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:402 ALDH1A1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19216797 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:943 ADGRB1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21511296 20190107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:216 ADAM9 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17465204 20100527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23979166 20170830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30066698 20231107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:23761023 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23956692 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20714168 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24708616 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:640 AQP7 is_marker_for DOID:11981 morbid obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17566090 20070730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:705 ARPC2 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19332774 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:16189276 20151215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21085492 20140529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29096 ARHGAP44 is_marker_for DOID:3905 lung carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28527113 20231208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3341 EMX2 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21726823 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2767 DEFB4A is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17000097 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9751261 20180102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:16195162 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31423201 20211021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17019709 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:0081267 graft-versus-host disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19379511 20120117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8099638 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9284832 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:20660932 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15962 CBX8 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25197352 20141014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:10316 pneumoconiosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19273541 20110412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:25048951 20200515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 is_marker_for DOID:3892 insulinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19013212 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18180323 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19086656 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11054182 20170511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:17874259 20111025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:20627037 20111025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:288 endometriosis of uterus ECO:0000270 expression pattern evidence used in manual assertion PMID:22572543 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:23288172 20140808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:19626510 20090914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19475625 20110412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:22871339 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20559432 20110915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:257 ADK is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:21635241 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:9546362 20140624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9557605 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15686130 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18849443 20110817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:952 BARD1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16152612 20100111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17004110 20080111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15517881 20080618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:8161 thyroid gland Hurthle cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25759796 20160715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11720438 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:464 AMH is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:17109858 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16631114 20091001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2046 CLDN4 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19793693 20100412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:31028191 20231212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20748 FANCL is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17409780 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:971 BCAR1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15448007 20161209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18253123 20080527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1806 CDX2 is_marker_for DOID:9206 Barrett's esophagus ECO:0000270 expression pattern evidence used in manual assertion PMID:23011828 20130920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15931388 20080514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2300 CPB2 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15668188 20061130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:809 cocaine abuse ECO:0000270 expression pattern evidence used in manual assertion PMID:21806491 20230901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:221 ADAMTS5 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:11801682 20150513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_marker_for DOID:670 amphetamine abuse ECO:0000270 expression pattern evidence used in manual assertion PMID:22871478 20131014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:6705 gastric body carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20127025 20141106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16449815 20120824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2358 CRHR2 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17597629 20110415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1242 C1QB is_marker_for DOID:9282 ocular hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16677633 20070206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:9778 irritable bowel syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21997550 20140527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:3429 inclusion body myositis ECO:0000270 expression pattern evidence used in manual assertion PMID:9450780 20170511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2548 CUBN is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:32682061 20231128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:607 APOC1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:3757210 20091028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16620281 20160527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22048239 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1711 ADGRE5 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12428789 20100412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:21172039 20121213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:5845 anterolateral myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:12581682 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16406113 20080626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17910346 20080626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17415114 20080626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18158066 20080618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:9655 oral mucosa leukoplakia ECO:0000270 expression pattern evidence used in manual assertion PMID:10873097 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:0070355 overactive bladder syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19784793 20130801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20723236 20141008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:37125 BACE1-AS is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:29316899 20180820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3570 ACSL3 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23936004 20181220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_marker_for DOID:13223 uterine fibroid ECO:0000270 expression pattern evidence used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:1407 anterior uveitis ECO:0000270 expression pattern evidence used in manual assertion PMID:6610667 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12099337 20160809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:2378 relapsing-remitting multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19383442 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16533773 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20967871 20220716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:451 AMACR is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14707866 20100106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:816 ATP2B3 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:705 ARPC2 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21136934 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21169243 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17671213 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29250167 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19038786 20110103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:48633 AGAP2-AS1 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27764782 20190121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:651 AREG is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16469638 20080430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:9470844 20080220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1637 CD1D is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26119195 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:225 ADAR is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30563560 20210402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19842835 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:0050745 diffuse large B-cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28438623 20210412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:2999 granulosa cell tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:11994539 20080125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_marker_for DOID:2917 cryoglobulinemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23840845 20160801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_marker_for DOID:7698 non-functioning pancreatic endocrine tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:29149451 20180814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1736 CDC42 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10817927 20120223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17944 EXOSC3 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29069277 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23692 ACKR3 is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29218250 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:26429926 20190813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1693 CD68 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22797933 20210129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2097 CMA1 is_marker_for DOID:1682 congenital heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10508822 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:319 ACAN is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11764092 20100113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:9445303 20101217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15127324 20090630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:15526056 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_marker_for DOID:9507 ethmoid sinusitis ECO:0000270 expression pattern evidence used in manual assertion PMID:9800627 20120531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2634 CYP2J2 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:23155181 20130507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19348 BET1L is_marker_for DOID:2870 endometrial adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28654152 20190329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22391157 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20185297 20141008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:13378 Kawasaki disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16982510 20120125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17693084 20080507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1700 CD80 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:20653937 20120920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:995 BCL2L2 is_marker_for DOID:0050745 diffuse large B-cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28094768 20190326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22393 BRINP3 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19787213 20190422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30251 BAMBI is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24752577 20190221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:3896597 20160315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:32051824 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18487475 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17971179 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32416070 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32360286 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32696007 20200817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20858153 20110706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1951 CHRM2 is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:19103464 20111028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1076 BMPR1A is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19324947 20110330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17517104 20101105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26339412 20210727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:9201 lichen planus ECO:0000270 expression pattern evidence used in manual assertion PMID:18050371 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:0060903 thrombosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9153543 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2665 CD55 is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9358772 20100628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:8986 narcolepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:21669245 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:10450379 20140825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:850 ATP5PO is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30266287 20190730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:13133 HELLP syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:23241952 20160804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1722 CDK1 is_marker_for DOID:3500 gallbladder adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15017593 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:48 ABCB7 is_marker_for DOID:8955 sideroblastic anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18398482 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:16263185 20070719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:20045148 20161004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17369505 20080206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3227 EFNB2 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12136247 20220811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 is_marker_for DOID:10459 common cold ECO:0000270 expression pattern evidence used in manual assertion PMID:20395558 20110706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3321 ELK1 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20126313 20131205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1874 CFL1 is_marker_for DOID:4948 gallbladder carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23320827 20161221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17966842 20090515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:15755896 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11032026 20080123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2593 CYP17A1 is_marker_for DOID:11612 polycystic ovary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:11739466 20101119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:12306 vitiligo ECO:0000270 expression pattern evidence used in manual assertion PMID:19439879 20140829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:590 BIRC2 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17154176 20080110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33320844 20220309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26314964 20211027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32504672 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32198776 20200616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:27411924 20220527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1863 CES1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33878036 20220613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12163367 20100408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:601 APOA2 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:9002300 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:16652150 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1528 CAV2 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20558341 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:22394569 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13575 BRD4 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23950209 20140929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15792116 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23300840 20210416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 is_marker_for DOID:9120 amyloidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12038073 20130826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:10887 lepromatous leprosy ECO:0000270 expression pattern evidence used in manual assertion PMID:6342123 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:0060318 acute promyelocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:10726043 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_marker_for DOID:3159 photosensitivity disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18753059 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18234277 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:9201 lichen planus ECO:0000270 expression pattern evidence used in manual assertion PMID:18050371 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1383 CA9 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18464292 20080521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1383 CA9 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12966427 20080521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:14616792 20160602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16951227 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10225458 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11222358 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28086903 20200807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13759 CYFIP1 is_marker_for DOID:0111715 Schaaf-Yang syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17435464 20161107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18075 AHSP is_marker_for DOID:13133 HELLP syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:18347943 20230719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16642 CXCL16 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21303517 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17925429 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:12351 alcoholic hepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29369844 20190617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10635 CCL8 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20625511 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16630050 20120229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3218 EFEMP1 is_marker_for DOID:657 adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24080855 20151006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:546 ANXA8 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18223320 20100608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19187771 20090708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17898873 20091230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:19185001 20120824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:4138 bile duct disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21037076 20160705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:3905 lung carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:183595 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22958305 20121016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1130 BTG1 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15449376 20150205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18276722 20101110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:3082 interstitial lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16095529 20101022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:6271 gastric cardia adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15585392 20160216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_marker_for DOID:13809 familial combined hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16797745 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13723 CTCF is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19737964 20220215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:16278229 20070719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15797629 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11756242 20090922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:2043 hepatitis B ECO:0000270 expression pattern evidence used in manual assertion PMID:12526294 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21539681 20210415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2300 CPB2 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:11836301 20091006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2726 DDIT3 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20856677 20200702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:352 AIF1 is_marker_for DOID:3454 brain infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:10683518 20090908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:16321857 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1602 CCR1 is_marker_for DOID:12217 Lewy body dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:14595653 20120220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:15716285 20091106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17154176 20100113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20203292 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1753 CDH13 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8673923 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26996551 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19159432 20110207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24825912 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2907 DLK1 is_marker_for DOID:13608 biliary atresia ECO:0000270 expression pattern evidence used in manual assertion PMID:14743499 20070615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20514434 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:429 ALOX12 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7679252 20111101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29085215 20201105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24566899 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:18723424 20090521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10626 CCL27 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19541356 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:12366416 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27498289 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10712437 20110509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17694953 20071231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:4001 ovarian carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26872615 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:17517342 20111011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:21595664 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_marker_for DOID:303 substance-related disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:15657124 20111107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:22247341 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14748845 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15236995 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:21844184 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:317 AFP is_marker_for DOID:3308 embryonal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:68943 20080409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:0050426 Stevens-Johnson syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12036968 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14634451 20081001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:9002300 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3321 ELK1 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:10891039 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19716197 20220511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30103827 20220511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17974280 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1408 CACNG4 is_marker_for DOID:9408 acute myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:27746059 20180419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1726 CDC25B is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12569365 20100706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18204829 20090923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:1580 diffuse scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:21615510 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1027 BDH1 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32456948 20200624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:11713 diabetic angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15803113 20100112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19075187 20110505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:0080822 aspirin-induced respiratory disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20022477 20101110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23262399 20130819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1722 CDK1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19136513 20100212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6210 CD82 is_marker_for DOID:2871 endometrial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12684410 20080201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:16421596 20080509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15814 ACSS2 is_marker_for DOID:11981 morbid obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:22384010 20181221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22134245 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:950 BAP1 is_marker_for DOID:6039 uveal melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25147369 20140925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_marker_for DOID:0002116 pterygium ECO:0000270 expression pattern evidence used in manual assertion PMID:11021831 20140922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16783 CDC73 is_marker_for DOID:1540 parathyroid carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27490759 20211228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:24465706 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:438 ALPL is_marker_for DOID:13809 familial combined hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:16336518 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:576 proteinuria ECO:0000270 expression pattern evidence used in manual assertion PMID:17634209 20090629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_marker_for DOID:0060319 cardiac arrest ECO:0000270 expression pattern evidence used in manual assertion PMID:19577077 20090804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17915016 20080122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19081814 20120117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8625322 20160725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:4195 hyperglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:3240844 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:13580 cholestasis ECO:0000270 expression pattern evidence used in manual assertion PMID:30507970 20200515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1607 CCR6 is_marker_for DOID:1564 fungal infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22287435 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:0080159 Cryptococcal meningitis ECO:0000270 expression pattern evidence used in manual assertion PMID:29058791 20210219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10910954 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:21258955 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:21439658 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22966016 20221019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16685269 20080703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15501397 20110204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:950 BAP1 is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:27422796 20210604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18301453 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:0080652 calcium oxalate nephrolithiasis ECO:0000270 expression pattern evidence used in manual assertion PMID:21908029 20130201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:21803060 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19276553 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18000229 20080421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:20373002 20180723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19194174 20180723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:0050933 ovarian serous carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30565428 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3026 DRD5 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17182012 20120123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1863 CES1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28035468 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:2600 laryngeal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16494043 20220506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1585 CCND3 is_marker_for DOID:3713 ovary adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17885491 20100121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20575639 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19386685 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19280268 20200221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16423632 20200221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1727 CDC25C is_marker_for DOID:4362 cervical cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15289842 20100706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:949 BAK1 is_marker_for DOID:127 leiomyoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16962107 20080507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11134381 20120120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:22350181 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20484586 20131014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18237448 20080204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26362312 20210923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33969575 20210923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:173 ACVR2A is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9714055 20100527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25752 ATAD5 is_marker_for DOID:3192 neurilemmoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20844836 20161012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:26893848 20210323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1073 BMP6 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20016212 20130404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:0050853 chronic venous insufficiency ECO:0000270 expression pattern evidence used in manual assertion PMID:23182154 20140826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18369072 20090630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_marker_for DOID:14018 alcoholic liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33173221 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:385 AKR1C2 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:15494612 20070716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:10459 common cold ECO:0000270 expression pattern evidence used in manual assertion PMID:15764644 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18456456 20140624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21297956 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:19731222 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:26460262 20180710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1964 CHRNB4 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20124469 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:15191918 20110419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1242 C1QB is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:1362796 20070206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:9408 acute myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:26476955 20180504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19153340 20140506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:746 ASL is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16121806 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_marker_for DOID:8677 perinatal necrotizing enterocolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19824106 20121213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:167 ACTR1A is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:26422100 20181227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1727 CDC25C is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15567944 20100706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3285 EIF4B is_marker_for DOID:0060041 autism spectrum disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:25627160 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23633032 20210521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18565574 20150729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11393 AURKA is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17349527 20071231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:14733777 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:10923 sickle cell anemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8191393 20161118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:20054800 20150522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:3429 inclusion body myositis ECO:0000270 expression pattern evidence used in manual assertion PMID:17572512 20120831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14310 BRD7 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18772500 20141001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18405896 20140520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22041561 20141008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3575 FADS2 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:24284026 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 is_marker_for DOID:8398 osteoarthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19942450 20150810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19787261 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:19818291 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:18197549 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14595263 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:545 ANXA7 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17708571 20080429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 is_marker_for DOID:10230 aortic atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:33035679 20230821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:5327 retinal detachment ECO:0000270 expression pattern evidence used in manual assertion PMID:23974951 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:11555 Fuchs' endothelial dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:21139973 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:0050697 chorioamnionitis ECO:0000270 expression pattern evidence used in manual assertion PMID:12700199 20170515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:1307 dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:2354367 20150825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:328 AGR2 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19714807 20200713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2961 DYNC1H1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9402150 20170726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_marker_for DOID:13580 cholestasis ECO:0000270 expression pattern evidence used in manual assertion PMID:19055369 20100409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10419598 20180712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20463180 20111011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17960140 20121207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1116 BSG is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17671123 20080118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3585 FANCD2 is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21697891 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_marker_for DOID:4481 allergic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:23883806 20160526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14532106 20141028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1383 CA9 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15069539 20080804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:2803327 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27230 ESCO2 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33573689 20230104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1834 CEBPB is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12391607 20151002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:20302606 20101014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21829457 20130123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:48633 AGAP2-AS1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28209205 20190121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:7147 ankylosing spondylitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21122270 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:11713 diabetic angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15803113 20100112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:13208 background diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:24092995 20140825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:8366982 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17206395 20140822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:12894 Sjogren's syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9890678 20140623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25520863 20180912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:3540828 20110406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:18504326 20100125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1373 CA2 is_marker_for DOID:3883 Lynch syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17855694 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16066 ACER3 is_marker_for DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:31949129 20200714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27980102 20191025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:708 ARPC5 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22089643 20170201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2466 CSPG4 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8562939 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1778 CDK7 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11124424 20150813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19989 ANAPC2 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12036940 20190711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:5241 hemangioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27388534 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:13544 low tension glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16148587 20140911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:2349 arteriosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9569183 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2900 DLG1 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15221964 20090507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32427582 20200618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27334660 20201002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_marker_for DOID:0050827 rheumatic heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16741676 20120905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1585 CCND3 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18679818 20100121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 is_marker_for DOID:799 varicose veins ECO:0000270 expression pattern evidence used in manual assertion PMID:26808710 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28820634 20210826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_marker_for DOID:399 tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21454357 20110422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 is_marker_for DOID:11335 sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17949965 20101105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24283754 20160801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12889595 20110225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:9206 Barrett's esophagus ECO:0000270 expression pattern evidence used in manual assertion PMID:10821489 20170512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:9111 cutaneous leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:32023254 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1442 CALM1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11470324 20180911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19687 EIF2AK4 is_marker_for DOID:5453 pulmonary venoocclusive disease ECO:0000270 expression pattern evidence used in manual assertion PMID:32209028 20200901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11393 AURKA is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14693746 20071231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:10637067 20100629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24190 CAMK2N1 is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23569218 20200121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20133813 20110920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12111306 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3388 EPHA4 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19542617 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:3488088 20120529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:651 AREG is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11523048 20080430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1499 CASP1 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:12396474 20110407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1911 CHAF1B is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22882088 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29499 ERAP2 is_marker_for DOID:13129 severe pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:24331737 20230524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3214 EEF2 is_marker_for DOID:5409 lung small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24589652 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:1686 glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19043361 20140624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 is_marker_for DOID:399 tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21509782 20210219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_marker_for DOID:823 periapical periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20646081 20120531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP is_marker_for DOID:893 Wilson disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18556333 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:0111535 progressive osseous heteroplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:18422975 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13759 CYFIP1 is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:26000921 20161208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:429 ALOX12 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:9500559 20091023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9714461 20150924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20972334 20171004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16231180 20171004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:10941 intracranial aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:32602008 20230201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:11145756 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19986 CYCS is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25578497 20180926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1578 CCNA2 is_marker_for DOID:3308 embryonal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14696091 20080528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:25675863 20160623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:995 BCL2L2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15147516 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17299390 20210921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22686245 20160725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:23286966 20160215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:22669512 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:129 ACTA1 is_marker_for DOID:0080685 aortic dissection ECO:0000270 expression pattern evidence used in manual assertion PMID:28167124 20220926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31396300 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:2953866 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2509 CTNNA1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9355975 20080211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3449 ERN1 is_marker_for DOID:8557 oropharynx cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31187548 20200630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1786 CDKN1C is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26606000 20220705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:0070004 myeloid neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:16959024 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15274022 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20564116 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23263828 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15164604 20120911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_marker_for DOID:1596 depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:25386878 20161111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1556 CBX6 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24260522 20141008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:4074 pancreatic adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25053516 20171208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15329320 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15912517 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3570 ACSL3 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27270436 20181220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1119 BST2 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26832883 20190423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:856 ATP6V1C1 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26984774 20190808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2766 DEFB1 is_marker_for DOID:12120 pulmonary alveolar proteinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17000097 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:171 ACVR1 is_marker_for DOID:13129 severe pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:24331737 20230524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:6364 migraine ECO:0000270 expression pattern evidence used in manual assertion PMID:21331754 20110920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3123 EBAG9 is_marker_for DOID:363 uterine cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16842844 20080214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16783 CDC73 is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:27334641 20211228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28677753 20180917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1319 C3AR1 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:18538384 20110404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:17198911 20101021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:12120 pulmonary alveolar proteinosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19046553 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17052298 20110715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31374064 20210617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31271515 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18854 CREB3L4 is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:17270658 20180118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17869 AFF4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:35223479 20221028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:14095 boutonneuse fever ECO:0000270 expression pattern evidence used in manual assertion PMID:3361150 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:31619063 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:8252 chronic rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:8845175 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11849406 20160217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22393 BRINP3 is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:26717922 20190419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12919155 20140822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 is_marker_for DOID:106 pleural tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:20337996 20110114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:17052299 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:2280 hidradenitis suppurativa ECO:0000270 expression pattern evidence used in manual assertion PMID:29603182 20210630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:6900632 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:348 AHR is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12203118 20100604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16951227 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:12145160 20100412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17376 AK3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17203974 20190129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:2942 bronchiolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:19470255 20110519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18336887 20080509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16231180 20171004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:172 ACVR1B is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9714055 20100319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21014 ANTXR1 is_marker_for DOID:0060081 triple-receptor negative breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21965755 20141210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:4247 coronary restenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:14578618 20061201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2203 COL4A2 is_marker_for DOID:13223 uterine fibroid ECO:0000270 expression pattern evidence used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_marker_for DOID:4608 common bile duct neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:18076041 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31502404 20220831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1608 CCR7 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12626344 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:939 BAG3 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11513873 20100611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:16043935 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_marker_for DOID:4448 macular degeneration ECO:0000270 expression pattern evidence used in manual assertion PMID:21072178 20150925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11802810 20080501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1499 CASP1 is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17375183 20100114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20237293 20101105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_marker_for DOID:9470 bacterial meningitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21303225 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20890431 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:20498147 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27230 ESCO2 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:36104638 20230104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19486127 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:13133 HELLP syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:9158311 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:20200561 20180626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:10140 dry eye syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16682594 20140404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1515 CAST is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19020018 20111104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:9206 Barrett's esophagus ECO:0000270 expression pattern evidence used in manual assertion PMID:11753681 20140623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20480531 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:0080522 thyroid gland anaplastic carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19706751 20141008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:0080522 thyroid gland anaplastic carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18701502 20141008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:2352345 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1585 CCND3 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:15755896 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:612 APOD is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:6828336 20090629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:746 ASL is_marker_for DOID:14755 argininosuccinic aciduria ECO:0000270 expression pattern evidence used in manual assertion PMID:3440446 20180614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:384 AKR1C1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:15494612 20070716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:10325 silicosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16831302 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2767 DEFB4A is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9843998 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1358 C9 is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24494798 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_marker_for DOID:0050639 primary cutaneous amyloidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:9740234 20131220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:2596 larynx cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23259294 20220511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1876 CFLAR is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23167276 20160630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2509 CTNNA1 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16426728 20080701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16622660 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16115302 20120125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:0080750 erythema nodosum ECO:0000270 expression pattern evidence used in manual assertion PMID:2783924 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:7606735 20110502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:12930 dilated cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:15685397 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:576 proteinuria ECO:0000270 expression pattern evidence used in manual assertion PMID:509177 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10638 CXCL11 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17550373 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18854 CREB3L4 is_marker_for DOID:2526 prostate adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11830526 20180118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18854 CREB3L4 is_marker_for DOID:2526 prostate adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17270658 20180118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28660384 20200304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17644140 20080111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1911 CHAF1B is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24039914 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_marker_for DOID:8506 bullous pemphigoid ECO:0000270 expression pattern evidence used in manual assertion PMID:21881593 20160602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11916627 20100603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3588 FANCG is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17409780 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:537 ANXA2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33675609 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:19932032 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3123 EBAG9 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15164121 20080214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8994440 20130523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2766 DEFB1 is_marker_for DOID:850 lung disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15463886 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13919 BAG6 is_marker_for DOID:9253 gastrointestinal stromal tumor ECO:0000270 expression pattern evidence used in manual assertion PMID:28197361 20190221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:18284633 20140326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 is_marker_for DOID:2921 glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:26339412 20210727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19422483 20200420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE is_marker_for DOID:2224 essential thrombocythemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18768782 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1338 C5AR1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:15940127 20110405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:11476 osteoporosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15108065 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20482250 20131118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1499 CASP1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:17303764 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:22705596 20160801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0050452 mevalonic aciduria ECO:0000270 expression pattern evidence used in manual assertion PMID:7780142 20140918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1499 CASP1 is_marker_for DOID:11132 prostatic hypertrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:16333955 20100114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:28715644 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_marker_for DOID:3526 cerebral infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:2352345 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27827395 20220822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:15788662 20080221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:898 autosomal dominant polycystic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12629276 20101019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19347046 20110513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2973 DNM1L is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25284615 20200710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14129 EHMT2 is_marker_for DOID:986 alopecia areata ECO:0000270 expression pattern evidence used in manual assertion PMID:21936853 20141112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1103 BRD2 is_marker_for DOID:1909 melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23950209 20140929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7620113 20191119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15465084 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22213175 20141106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 is_marker_for DOID:1749 squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8919037 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3026 DRD5 is_marker_for DOID:0060040 pervasive developmental disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:21906006 20120124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1958 CHRNA4 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15465084 20150216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30251 BAMBI is_marker_for DOID:14654 prostatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:27243216 20190222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1014 BCR is_marker_for DOID:8552 chronic myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:12613514 20210128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2097 CMA1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18783610 20110308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_marker_for DOID:3907 lung squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20124469 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:20109314 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:758 ASS1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30901224 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:947 BAIAP2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23537733 20170106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2956 DNASE1 is_marker_for DOID:12236 primary biliary cholangitis ECO:0000270 expression pattern evidence used in manual assertion PMID:28263100 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16799475 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26758680 20210816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16186425 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33173221 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:24927058 20191031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1077 BMPR1B is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:18292470 20110330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:537 ANXA2 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19171478 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_marker_for DOID:114 heart disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20005173 20150702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:953 BARHL1 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:28956815 20190225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2444 CSK is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:9918913 20110701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:216 ADAM9 is_marker_for DOID:8991 cervix uteri carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:19473694 20100527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:9445303 20070716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:12361 Graves' disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11422195 20140625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_marker_for DOID:1712 aortic valve stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:15533858 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_marker_for DOID:1520 colon carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11809809 20220208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22041561 20141008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 is_marker_for DOID:13133 HELLP syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12969811 20151215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:375 AKAP5 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10460255 20090916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1709 CD9 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16132579 20100629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:11335 sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:183595 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3353 ENO2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17951193 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2557 CUX1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28405678 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:12375 bronchopneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:20350425 20110127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1709 CD9 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:14534881 20100629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25480402 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2015 CLCA1 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17637221 20101111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13575 BRD4 is_marker_for DOID:3969 thyroid gland papillary carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26707881 20181115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:500 ANPEP is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 is_marker_for DOID:1837 diabetic ketoacidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12021537 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17868 BBC3 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23632475 20210903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:178 vascular disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17893004 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:170 ACTR3 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25682201 20161220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:953 BARHL1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28956815 20190225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15860378 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:11297753 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10744069 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1022 BCYRN1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:27317124 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13723 CTCF is_marker_for DOID:0080144 childhood acute lymphocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24393203 20220215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_marker_for DOID:9620 vesicoureteral reflux ECO:0000270 expression pattern evidence used in manual assertion PMID:11819209 20121004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:3312 bipolar disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:22137759 20120120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31849482 20220316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2545 CTSS is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9691094 20120201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:11222358 20141106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:23251566 20141106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21129004 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2363 CRKL is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16391854 20131204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 is_marker_for DOID:10772 thrombotic thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:9129011 20151214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:15370700 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3214 EEF2 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21554491 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16764962 20140911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1919 CHD4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26095183 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_marker_for DOID:418 systemic scleroderma ECO:0000270 expression pattern evidence used in manual assertion PMID:17360781 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18173 ERAP1 is_marker_for DOID:13129 severe pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:24331737 20230524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17724461 20220909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:1485 cystic fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10567629 20170515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21620107 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3392 EPHB1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12136247 20220811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17376 AK3 is_marker_for DOID:1040 chronic lymphocytic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:27078856 20190129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21893562 20130419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1851 CENPA is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21956590 20200730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3026 DRD5 is_marker_for DOID:14330 Parkinson's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10495037 20120124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:18702087 20090513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:12365 malaria ECO:0000270 expression pattern evidence used in manual assertion PMID:28892065 20200807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17328 DTNBP1 is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:22337344 20160621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:0060041 autism spectrum disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:21984201 20170329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11340249 20130826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9437 EIF2AK2 is_marker_for DOID:332 amyotrophic lateral sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:12675919 20081030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10643 CXCL6 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:15988615 20110128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28551630 20191115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18684970 20101105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:2986 IgA glomerulonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:11287758 20121207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:453 AMBP is_marker_for DOID:11400 pyelonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19205372 20121010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1602 CCR1 is_marker_for DOID:5082 liver cirrhosis ECO:0000270 expression pattern evidence used in manual assertion PMID:19280268 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:6195 conjunctivitis ECO:0000270 expression pattern evidence used in manual assertion PMID:3875643 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16440198 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1047 BHMT is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30901224 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:83 cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:15295623 20140822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:856 ATP6V1C1 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23722107 20190808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:9578960 20091028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3551 F9 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:7974333 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19293263 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2557 CUX1 is_marker_for DOID:3892 insulinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25248790 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3123 EBAG9 is_marker_for DOID:2870 endometrial adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16112719 20080214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_marker_for DOID:11981 morbid obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:12883487 20070731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1964 CHRNB4 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20124469 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2907 DLK1 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:16288219 20070614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7885 CCN3 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:16675545 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16066 ACER3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30097213 20200714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22160518 20130124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:4440 seminoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17916181 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_marker_for DOID:9849 Meniere's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20461409 20140811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:9111 cutaneous leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:9892499 20140902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17644140 20080111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:15370700 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:11624 penile benign neoplasm ECO:0000270 expression pattern evidence used in manual assertion PMID:17695500 20080123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:9642160 20110805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:10690 mastitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16250882 20111205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:11166 Human papillomavirus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16845792 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20648654 20130321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:21354048 20120227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17924468 20080123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:169 ACTR2 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14990971 20161220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11326698 20071231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:389 AKR7A2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:11597610 20190211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:20010090 20110512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2394 CRYBA1 is_marker_for DOID:83 cataract ECO:0000270 expression pattern evidence used in manual assertion PMID:24520233 20150824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3546 F8 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:7974333 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:16924394 20111205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:2157294 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:20467748 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:1168 familial hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:8914465 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1911 CHAF1B is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:24039914 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:438 ALPL is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:16197789 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31211449 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_marker_for DOID:4468 clear cell adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23539629 20141021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32663515 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21593018 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19424621 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE is_marker_for DOID:8997 polycythemia vera ECO:0000270 expression pattern evidence used in manual assertion PMID:18768782 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22116092 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:0002116 pterygium ECO:0000270 expression pattern evidence used in manual assertion PMID:18987486 20140822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19846969 20171003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:3114 serous cystadenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16012716 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1589 CCNE1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17483245 20080125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20367977 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16075292 20071231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3573 FADD is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15520222 20160706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1073 BMP6 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17004110 20080111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:0050156 idiopathic pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:10946084 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:171 ACVR1 is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9714055 20100526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1764 CDH5 is_marker_for DOID:3963 thyroid gland carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32626543 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:993 BCL2L10 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22207111 20190304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:317 AFP is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17932343 20080409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:438 ALPL is_marker_for DOID:8719 in situ carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10547581 20100106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:34341 CDKN2B-AS1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:27317124 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:784 chronic kidney disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21822023 20130520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1371 CA12 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10666387 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:30029779 20210517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3123 EBAG9 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16112719 20080214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_marker_for DOID:9952 acute lymphoblastic leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:21487112 20160615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9119882 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:19330838 20090916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2158 CNP is_marker_for DOID:0050425 restless legs syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:21570342 20120517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18452128 20080623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15851405 20080502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29849 CADM2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24240726 20200103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 is_marker_for DOID:8947 diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:34362349 20221111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:108 ACHE is_marker_for DOID:9470 bacterial meningitis ECO:0000270 expression pattern evidence used in manual assertion PMID:21303225 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:633 AQP1 is_marker_for DOID:636 central pontine myelinolysis ECO:0000270 expression pattern evidence used in manual assertion PMID:24252214 20140808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:13801 pharyngoconjunctival fever ECO:0000270 expression pattern evidence used in manual assertion PMID:17876605 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:215 ADAM8 is_marker_for DOID:9498 pulmonary eosinophilia ECO:0000270 expression pattern evidence used in manual assertion PMID:19625177 20110322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:0081120 Graves ophthalmopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:19734241 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_marker_for DOID:13641 exfoliation syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:7777294 20140922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1726 CDC25B is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15550849 20100706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2771 CFD is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:14564690 20070509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16951227 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29882245 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6027 CXCR2 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:14596426 20130829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:15747054 20130201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16783 CDC73 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21315421 20211228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17273734 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32416070 20200616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:4483 rhinitis ECO:0000270 expression pattern evidence used in manual assertion PMID:17625281 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:1564 fungal infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22287435 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10617 CCL19 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16959919 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_marker_for DOID:3892 insulinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11331218 20100528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 is_marker_for DOID:0080162 lupus nephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:17659436 20130826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1919 CHD4 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29467924 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:17805323 20160803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:3307 teratoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17390059 20080623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:550 AOC3 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:11052858 20091016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:9261 nasopharynx carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21300475 20210413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:576 APAF1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28982084 20180801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:2755 Mycobacterium avium complex disease ECO:0000270 expression pattern evidence used in manual assertion PMID:26300588 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:32642408 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:317 AFP is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17659325 20080721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24260522 20141008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2973 DNM1L is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:19605646 20170131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1499 CASP1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12633148 20180830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:9452 steatotic liver disease ECO:0000270 expression pattern evidence used in manual assertion PMID:28011329 20191018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9665462 20101220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2661 DAB1 is_marker_for DOID:12849 autistic disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:15820235 20100510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 is_marker_for DOID:1470 major depressive disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:20953200 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 is_marker_for DOID:2734 keratosis follicularis ECO:0000270 expression pattern evidence used in manual assertion PMID:8919037 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:108 ACHE is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:2658981 20090817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_marker_for DOID:0080122 Alpers-Huttenlocher syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20680636 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:4467 clear cell renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21947243 20130528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:13276 Mycoplasma pneumoniae pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:21426633 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:0081267 graft-versus-host disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20037809 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:841 extrinsic allergic alveolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:10384061 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:22989431 20130125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3341 EMX2 is_marker_for DOID:0050861 colorectal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28830374 20220811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:9065 leishmaniasis ECO:0000270 expression pattern evidence used in manual assertion PMID:17457607 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:10604543 20130312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9507158 20150723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:0050848 obstructive sleep apnea ECO:0000270 expression pattern evidence used in manual assertion PMID:20847078 20110120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:11166 Human papillomavirus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:31430224 20200911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1607 CCR6 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21624121 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:1793 pancreatic cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12499913 20100402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:4930 nasal cavity adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19903339 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:0050523 adult T-cell leukemia/lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:7513372 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 is_marker_for DOID:9620 vesicoureteral reflux ECO:0000270 expression pattern evidence used in manual assertion PMID:11819209 20121004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:10808 gastric ulcer ECO:0000270 expression pattern evidence used in manual assertion PMID:20029210 20220708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16292515 20100603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2529 CTSD is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15907478 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:16364297 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1242 C1QB is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:19635508 20200527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3218 EFEMP1 is_marker_for DOID:0060745 Doyne honeycomb retinal dystrophy ECO:0000270 expression pattern evidence used in manual assertion PMID:12242346 20151007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1084 BNIP3 is_marker_for DOID:8677 perinatal necrotizing enterocolitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16002567 20161115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1929 CHGA is_marker_for DOID:0050771 pheochromocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:2189303 20121019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1726 CDC25B is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19383904 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3341 EMX2 is_marker_for DOID:4914 esophagus adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31432154 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21332332 20121016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_marker_for DOID:0111536 Buschke-Ollendorff syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:1629625 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3214 EEF2 is_marker_for DOID:234 colon adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19360331 20220802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15183956 20120120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_marker_for DOID:10126 keratoconus ECO:0000270 expression pattern evidence used in manual assertion PMID:19956410 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_marker_for DOID:0050865 tongue squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26581505 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1371 CA12 is_marker_for DOID:3748 esophagus squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26316888 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1709 CD9 is_marker_for DOID:2893 cervix carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14695144 20100629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15774784 20110516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:19100955 20090716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15705099 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2300 CPB2 is_marker_for DOID:1184 nephrotic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12439147 20130506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1579 CCNB1 is_marker_for DOID:2526 prostate adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10193948 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:108 ACHE is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:2953866 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:0081267 graft-versus-host disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9404931 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14310 BRD7 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22008115 20141001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:216 ADAM9 is_marker_for DOID:3083 chronic obstructive pulmonary disease ECO:0000270 expression pattern evidence used in manual assertion PMID:36522710 20231019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:0060074 ductal carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:12628841 20080205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:13550 angle-closure glaucoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21946544 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:4449 macular retinal edema ECO:0000270 expression pattern evidence used in manual assertion PMID:23568601 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:17234659 20110715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_marker_for DOID:10887 lepromatous leprosy ECO:0000270 expression pattern evidence used in manual assertion PMID:6342123 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:37129 EGOT is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:27317124 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:21839130 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3177 EDN2 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15007037 20070606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3341 EMX2 is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:25023662 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2509 CTNNA1 is_marker_for DOID:3457 invasive lobular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12047765 20080211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_marker_for DOID:4251 conjunctival disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15584350 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:11713 diabetic angiopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:14963650 20091106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA is_marker_for DOID:11400 pyelonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:15286264 20130108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17922460 20080221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:590 BIRC2 is_marker_for DOID:3744 cervical squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12208731 20080111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_marker_for DOID:1168 familial hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:15219807 20070416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:2316 brain ischemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18261165 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:253 ADH5 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:19395503 20110322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29767252 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1069 BMP2 is_marker_for DOID:10283 prostate cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15042598 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16432373 20120125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:12935979 20151215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:20726330 20130802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:631 fibromyalgia ECO:0000270 expression pattern evidence used in manual assertion PMID:19924498 20191104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:2128269 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1674 CD3E is_marker_for DOID:2945 severe acute respiratory syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16237152 20200604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17151862 20150813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:188 ADAM10 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:31565100 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:330 AGRP is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:11344185 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:12115583 20080509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17363528 20080509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:0050169 cutaneous lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:18050371 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:9351 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:17635572 20091105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:20371397 20110707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_marker_for DOID:552 pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:18410262 20110718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:4166 syphilis ECO:0000270 expression pattern evidence used in manual assertion PMID:18008231 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:0060224 atrial fibrillation ECO:0000270 expression pattern evidence used in manual assertion PMID:22669310 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20124469 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23430818 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:704 ARPC1B is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15279900 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:601 APOA2 is_marker_for DOID:13809 familial combined hyperlipidemia ECO:0000270 expression pattern evidence used in manual assertion PMID:12738753 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29462326 20210907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:19221099 20160803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2535 CTSH is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:7561949 20120120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2202 COL4A1 is_marker_for DOID:13223 uterine fibroid ECO:0000270 expression pattern evidence used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_marker_for DOID:0111535 progressive osseous heteroplasia ECO:0000270 expression pattern evidence used in manual assertion PMID:18422975 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:9158311 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:5844 myocardial infarction ECO:0000270 expression pattern evidence used in manual assertion PMID:7495060 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7098 CXCL9 is_marker_for DOID:8544 chronic fatigue syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:26615570 20191112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:8997 polycythemia vera ECO:0000270 expression pattern evidence used in manual assertion PMID:9475763 20160725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:3951 acute myocarditis ECO:0000270 expression pattern evidence used in manual assertion PMID:9495297 20180723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_marker_for DOID:10533 viral pneumonia ECO:0000270 expression pattern evidence used in manual assertion PMID:20644177 20101102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33046030 20220209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 is_marker_for DOID:2799 bronchiolitis obliterans ECO:0000270 expression pattern evidence used in manual assertion PMID:18785972 20101110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29069277 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15668187 20090518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:631 fibromyalgia ECO:0000270 expression pattern evidence used in manual assertion PMID:22532869 20140826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_marker_for DOID:4971 myelofibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:23571153 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:25618828 20221115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:3310 atopic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16449815 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:853 polymyalgia rheumatica ECO:0000270 expression pattern evidence used in manual assertion PMID:2859021 20140917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_marker_for DOID:0080600 COVID-19 ECO:0000270 expression pattern evidence used in manual assertion PMID:32360286 20200618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:640 AQP7 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:15338270 20070730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:2617479 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:17654056 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_marker_for DOID:4948 gallbladder carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28295868 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15467 DYNLRB2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11750132 20170809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:12743671 20091008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:954 BARHL2 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:27453340 20190225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1709 CD9 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:12079303 20100629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:219 colon cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:15820509 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:288 endometriosis of uterus ECO:0000270 expression pattern evidence used in manual assertion PMID:22572543 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:943 ADGRB1 is_marker_for DOID:4074 pancreatic adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11875720 20190107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_marker_for DOID:12549 hepatitis A ECO:0000270 expression pattern evidence used in manual assertion PMID:26347518 20201120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:0060322 mastoiditis ECO:0000270 expression pattern evidence used in manual assertion PMID:22578647 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:361 AK1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:15855311 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:24301790 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3357 ENPP2 is_marker_for DOID:13207 proliferative diabetic retinopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:22864860 20150109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:1307 dementia ECO:0000270 expression pattern evidence used in manual assertion PMID:11423103 20150925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 is_marker_for DOID:11714 gestational diabetes ECO:0000270 expression pattern evidence used in manual assertion PMID:36477942 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:2615 papilloma ECO:0000270 expression pattern evidence used in manual assertion PMID:11684723 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_marker_for DOID:8568 infectious mononucleosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11185989 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:18683034 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:4926 bronchiolo-alveolar adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:14674039 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:895 AVPR1A is_marker_for DOID:10762 portal hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:12641544 20080912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:24365562 20160215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18808740 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21918885 20171003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 is_marker_for DOID:3069 malignant astrocytoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20133820 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:21180278 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:16387800 20101015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_marker_for DOID:0080521 lung non-squamous non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:28004751 20220428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:42872 CARMN is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:34289702 20230131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:23954573 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:1240 leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:24182818 20160216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_marker_for DOID:0050700 cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:21278397 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_marker_for DOID:8692 myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:7510191 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18676 DDX42 is_marker_for DOID:0050908 myelodysplastic syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:16211284 20150406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:0050912 colon adenoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11375949 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21252046 20111024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:161 ACTL7A is_marker_for DOID:4006 bladder urothelial carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29058301 20181227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3377 EPB41 is_marker_for DOID:2373 hereditary elliptocytosis ECO:0000270 expression pattern evidence used in manual assertion PMID:17994571 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_marker_for DOID:1591 renovascular hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:15284680 20070601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22549618 20210422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19017998 20101111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:1273 respiratory syncytial virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18439876 20110203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:3328 temporal lobe epilepsy ECO:0000270 expression pattern evidence used in manual assertion PMID:28576733 20220913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13203 AICDA is_marker_for DOID:526 human immunodeficiency virus infectious disease ECO:0000270 expression pattern evidence used in manual assertion PMID:30219203 20210624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:601 APOA2 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31211449 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_marker_for DOID:4450 renal cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15991006 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1693 CD68 is_marker_for DOID:13254 diverticulitis of colon ECO:0000270 expression pattern evidence used in manual assertion PMID:21553154 20210125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:4195 hyperglycemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18487475 20091022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17262 BRMS1 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15592684 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23778417 20160217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:943 ADGRB1 is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:9772287 20190107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_marker_for DOID:11400 pyelonephritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20218820 20130419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_marker_for DOID:1574 alcohol use disorder ECO:0000270 expression pattern evidence used in manual assertion PMID:30277635 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_marker_for DOID:8805 intermediate coronary syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:20467748 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12214116 20100121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_marker_for DOID:5517 stomach carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21709195 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:995 BCL2L2 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:24270187 20190326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1515 CAST is_marker_for DOID:14067 Plasmodium falciparum malaria ECO:0000270 expression pattern evidence used in manual assertion PMID:17359359 20111104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:10891039 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2770 DES is_marker_for DOID:0080092 myofibrillar myopathy 1 ECO:0000270 expression pattern evidence used in manual assertion PMID:28341603 20180508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_marker_for DOID:2154 nephroblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11888090 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16921 AGAP2 is_marker_for DOID:0050866 oral squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:26464646 20190111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_marker_for DOID:7474 malignant pleural mesothelioma ECO:0000270 expression pattern evidence used in manual assertion PMID:22028491 20210416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:2972 renal artery obstruction ECO:0000270 expression pattern evidence used in manual assertion PMID:23399713 20130801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:220 ADAMTS4 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:11801682 20150513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_marker_for DOID:3393 coronary artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17983622 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:8741 seborrheic dermatitis ECO:0000270 expression pattern evidence used in manual assertion PMID:24001414 20140829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2473 CST1 is_marker_for DOID:4947 cholangiocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31687280 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:9675 pulmonary emphysema ECO:0000270 expression pattern evidence used in manual assertion PMID:15526056 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_marker_for DOID:2671 transitional cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18172282 20080527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:317 AFP is_marker_for DOID:3305 teratocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:68943 20080409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19942450 20150810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:23849457 20220913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_marker_for DOID:12689 acoustic neuroma ECO:0000270 expression pattern evidence used in manual assertion PMID:20881564 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:12357295 20140822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16617 BHLHE41 is_marker_for DOID:5041 esophageal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:29890466 20220316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_marker_for DOID:13406 pulmonary sarcoidosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16933469 20110516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_marker_for DOID:10763 hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:12387587 20070416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_marker_for DOID:0080199 colorectal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18803056 20220422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_marker_for DOID:0080941 acquired angioedema ECO:0000270 expression pattern evidence used in manual assertion PMID:9129025 20161118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:16917002 20160526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3052 DSP is_marker_for DOID:11984 hypertrophic cardiomyopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:8944586 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:23861893 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15922480 20221019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:12742378 20091027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16232222 20091027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:18400253 20080515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 is_marker_for DOID:1324 lung cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:16453150 20110114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3288 EIF4EBP1 is_marker_for DOID:3908 lung non-small cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:23632475 20210903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:2957 pulmonary tuberculosis ECO:0000270 expression pattern evidence used in manual assertion PMID:29843631 20200519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_marker_for DOID:10286 prostate carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17454944 20071231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:3021 acute kidney failure ECO:0000270 expression pattern evidence used in manual assertion PMID:21374789 20140702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_marker_for DOID:289 endometriosis ECO:0000270 expression pattern evidence used in manual assertion PMID:8550748 20130830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1712 CDA is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:8076377 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3519 EYA1 is_marker_for DOID:699 mitochondrial myopathy ECO:0000270 expression pattern evidence used in manual assertion PMID:23107834 20140725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19382180 20091118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_marker_for DOID:6432 pulmonary hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:17470567 20070605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_marker_for DOID:1474 aggressive periodontitis ECO:0000270 expression pattern evidence used in manual assertion PMID:16013223 20140916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2172 CNTN2 is_marker_for DOID:3070 high grade glioma ECO:0000270 expression pattern evidence used in manual assertion PMID:11280781 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:15256090 20110204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:12858 Huntington's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:18768156 20100202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:170 ACTR3 is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:16491132 20161221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9507158 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_marker_for DOID:9538 multiple myeloma ECO:0000270 expression pattern evidence used in manual assertion PMID:27243341 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:21779448 20160715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:8751438 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_marker_for DOID:11247 disseminated intravascular coagulation ECO:0000270 expression pattern evidence used in manual assertion PMID:8914465 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_marker_for DOID:2841 asthma ECO:0000270 expression pattern evidence used in manual assertion PMID:9449507 20110223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2185 COL10A1 is_marker_for DOID:3910 lung adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:33324550 20210924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_marker_for DOID:4531 mucoepidermoid carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15999364 20141031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1607 CCR6 is_marker_for DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22048239 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:928 B4GALT5 is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:25216636 20190219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17288 APOA5 is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:16039297 20090917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_marker_for DOID:8924 autoimmune thrombocytopenic purpura ECO:0000270 expression pattern evidence used in manual assertion PMID:19379594 20160801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_marker_for DOID:0050746 mantle cell lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:10329919 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_marker_for DOID:3457 invasive lobular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17721269 20080212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:23808167 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:429 ALOX12 is_marker_for DOID:8577 ulcerative colitis ECO:0000270 expression pattern evidence used in manual assertion PMID:7679252 20111101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_marker_for DOID:6000 congestive heart failure ECO:0000270 expression pattern evidence used in manual assertion PMID:19961288 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:3587 pancreatic ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:17420962 20171208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1725 CDC25A is_marker_for DOID:3459 breast carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19555767 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:18172291 20080610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21906738 20130516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:11054 urinary bladder cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22236518 20120910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18484561 20091028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:15646812 20140625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:14115 toxic shock syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:2788582 20201130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_marker_for DOID:9744 type 1 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:10831941 20091104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 is_marker_for DOID:8893 psoriasis ECO:0000270 expression pattern evidence used in manual assertion PMID:17495954 20150904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:4617 periapical granuloma ECO:0000270 expression pattern evidence used in manual assertion PMID:11683586 20120828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 is_marker_for DOID:1936 atherosclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:16166801 20130826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1585 CCND3 is_marker_for DOID:3008 invasive ductal carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:11329139 20100121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_marker_for DOID:9119 acute myeloid leukemia ECO:0000270 expression pattern evidence used in manual assertion PMID:22391157 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:819 ATP4A is_marker_for DOID:10534 stomach cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:33470887 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:437 ALPI is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:22783049 20190213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_marker_for DOID:0081312 T-cell non-Hodgkin lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20369488 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:949 BAK1 is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9507158 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_marker_for DOID:8634 prostate carcinoma in situ ECO:0000270 expression pattern evidence used in manual assertion PMID:18691549 20080812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:12725089 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:1883 hepatitis C ECO:0000270 expression pattern evidence used in manual assertion PMID:28163109 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_marker_for DOID:10762 portal hypertension ECO:0000270 expression pattern evidence used in manual assertion PMID:17161183 20191031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1119 BST2 is_marker_for DOID:1380 endometrial cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:22729361 20190423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_marker_for DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ECO:0000270 expression pattern evidence used in manual assertion PMID:20505746 20160602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2348 CREBBP is_marker_for DOID:10591 pre-eclampsia ECO:0000270 expression pattern evidence used in manual assertion PMID:33625689 20220913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 is_marker_for DOID:1712 aortic valve stenosis ECO:0000270 expression pattern evidence used in manual assertion PMID:1648674 20130311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:9074 systemic lupus erythematosus ECO:0000270 expression pattern evidence used in manual assertion PMID:21180278 20120828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1389 CACNA1B is_marker_for DOID:4724 brain edema ECO:0000270 expression pattern evidence used in manual assertion PMID:27487831 20230726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14685 F11R is_marker_for DOID:1612 breast cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:19533747 20131205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_marker_for DOID:2917 cryoglobulinemia ECO:0000270 expression pattern evidence used in manual assertion PMID:18775023 20200515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16991 CKAP4 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:30901224 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:19394758 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_marker_for DOID:3068 glioblastoma ECO:0000270 expression pattern evidence used in manual assertion PMID:16264179 20180718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_marker_for DOID:7148 rheumatoid arthritis ECO:0000270 expression pattern evidence used in manual assertion PMID:19017998 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_marker_for DOID:10113 trypanosomiasis ECO:0000270 expression pattern evidence used in manual assertion PMID:25375156 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_marker_for DOID:8923 skin melanoma ECO:0000270 expression pattern evidence used in manual assertion PMID:8952530 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:10223 dermatomyositis ECO:0000270 expression pattern evidence used in manual assertion PMID:9182923 20140624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2719 DDC is_marker_for DOID:2018 hyperinsulinism ECO:0000270 expression pattern evidence used in manual assertion PMID:16403819 20110324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:17206692 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2695 DBN1 is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:12009525 20150911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_marker_for DOID:3770 pulmonary fibrosis ECO:0000270 expression pattern evidence used in manual assertion PMID:21190578 20110407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_marker_for DOID:9256 colorectal cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:11114712 20220613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3557 FABP3 is_marker_for DOID:14250 Down syndrome ECO:0000270 expression pattern evidence used in manual assertion PMID:15068254 20150121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11529 EPCAM is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:24616575 20190627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 is_marker_for DOID:8778 Crohn's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:27051591 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_marker_for DOID:13241 Behcet's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:9132327 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1389 CACNA1B is_marker_for DOID:2377 multiple sclerosis ECO:0000270 expression pattern evidence used in manual assertion PMID:11353727 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_marker_for DOID:10652 Alzheimer's disease ECO:0000270 expression pattern evidence used in manual assertion PMID:12742739 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_marker_for DOID:2018 hyperinsulinism ECO:0000270 expression pattern evidence used in manual assertion PMID:15789277 20070601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_marker_for DOID:8506 bullous pemphigoid ECO:0000270 expression pattern evidence used in manual assertion PMID:21488867 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:5419 schizophrenia ECO:0000270 expression pattern evidence used in manual assertion PMID:12192610 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_marker_for DOID:3407 carotid artery disease ECO:0000270 expression pattern evidence used in manual assertion PMID:21546482 20120426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:607 APOC1 is_marker_for DOID:684 hepatocellular carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:31211449 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:0050697 chorioamnionitis ECO:0000270 expression pattern evidence used in manual assertion PMID:22578261 20120709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_marker_for DOID:2876 laryngeal squamous cell carcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:22549618 20210422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_marker_for DOID:7693 abdominal aortic aneurysm ECO:0000270 expression pattern evidence used in manual assertion PMID:16524566 20070601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_marker_for DOID:0080941 acquired angioedema ECO:0000270 expression pattern evidence used in manual assertion PMID:9129025 20161118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:545 ANXA7 is_marker_for DOID:2394 ovarian cancer ECO:0000270 expression pattern evidence used in manual assertion PMID:17708571 20080429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_marker_for DOID:9352 type 2 diabetes mellitus ECO:0000270 expression pattern evidence used in manual assertion PMID:18950899 20100409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_marker_for DOID:3498 pancreatic ductal adenocarcinoma ECO:0000270 expression pattern evidence used in manual assertion PMID:29735403 20180813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_marker_for DOID:9970 obesity ECO:0000270 expression pattern evidence used in manual assertion PMID:18492752 20120829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_marker_for DOID:783 end stage renal disease ECO:0000270 expression pattern evidence used in manual assertion PMID:20845051 20130125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_marker_for DOID:2508 Takayasu's arteritis ECO:0000270 expression pattern evidence used in manual assertion PMID:20579752 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12791 WRN is_implicated_in DOID:1580 diffuse scleroderma ECO:0000314 direct assay evidence used in manual assertion PMID:16906373 20150512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18081 WIF1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17145819 20080401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15867 YTHDF1 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:34974791 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16700 ZFPM2 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0000314 direct assay evidence used in manual assertion PMID:26959486 20230125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16700 ZFPM2 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14517948 20230125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16700 ZFPM2 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:20087949 20130723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:30344734 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33115 ZNF793 is_implicated_in DOID:9206 Barrett's esophagus ECO:0000314 direct assay evidence used in manual assertion PMID:26545406 20190219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:12914969 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18081 WIF1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18325051 20080401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12856 YY1 is_implicated_in DOID:6000 congestive heart failure ECO:0000314 direct assay evidence used in manual assertion PMID:12754214 20141023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18081 WIF1 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16501252 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_implicated_in DOID:12134 factor VIII deficiency ECO:0000314 direct assay evidence used in manual assertion PMID:24687919 20160420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_implicated_in DOID:12134 factor VIII deficiency ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24263002 20160420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19010488 20101019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_implicated_in DOID:3770 pulmonary fibrosis ECO:0000314 direct assay evidence used in manual assertion PMID:16338226 20160425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:19065635 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:2938 Epstein-Barr virus infectious disease ECO:0000314 direct assay evidence used in manual assertion PMID:23829175 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_implicated_in DOID:11394 adult respiratory distress syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:9720777 20101008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:4724 brain edema ECO:0000314 direct assay evidence used in manual assertion PMID:17692294 20140512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11161 SNRPE is_implicated_in DOID:0080162 lupus nephritis ECO:0000314 direct assay evidence used in manual assertion PMID:15494537 20160205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30796 STRAP is_implicated_in DOID:3168 squamous cell neoplasm ECO:0000314 direct assay evidence used in manual assertion PMID:16778189 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15917 PLCB1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:21109771 20160923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:9667 placental abruption ECO:0000314 direct assay evidence used in manual assertion PMID:9855597 20161116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:4483 rhinitis ECO:0000314 direct assay evidence used in manual assertion PMID:15120189 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8940 PHYH is_implicated_in DOID:905 Zellweger syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:10709665 20181227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8940 PHYH is_implicated_in DOID:905 Zellweger syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:8954107 20181227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_implicated_in DOID:8689 anorexia nervosa ECO:0000314 direct assay evidence used in manual assertion PMID:10356629 20121116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10472 RUNX2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:30780105 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:12306 vitiligo ECO:0000314 direct assay evidence used in manual assertion PMID:8697641 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:12306 vitiligo ECO:0000314 direct assay evidence used in manual assertion PMID:22834951 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR is_implicated_in DOID:12361 Graves' disease ECO:0000314 direct assay evidence used in manual assertion PMID:7828357 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR is_implicated_in DOID:12361 Graves' disease ECO:0000314 direct assay evidence used in manual assertion PMID:24518168 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR is_implicated_in DOID:12361 Graves' disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9528975 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21642385 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21124799 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11887032 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19244275 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_implicated_in DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0000314 direct assay evidence used in manual assertion PMID:19874310 20160630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8951 SERPINE2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:2813392 20100430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:3780056 20120323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0000314 direct assay evidence used in manual assertion PMID:18310480 20100927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20448057 20100927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19797132 20100927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:15235874 20220110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:22318090 20220110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:14614012 20220110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:23699600 20160429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH is_implicated_in DOID:7442 monoclonal gammopathy of uncertain significance ECO:0000314 direct assay evidence used in manual assertion PMID:12536221 20150212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_implicated_in DOID:8283 peritonitis ECO:0000314 direct assay evidence used in manual assertion PMID:23422200 20130726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:0080855 Parkinsonism ECO:0000314 direct assay evidence used in manual assertion PMID:21831964 20130711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:10591 pre-eclampsia ECO:0000314 direct assay evidence used in manual assertion PMID:15562025 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_implicated_in DOID:14069 cerebral malaria ECO:0000314 direct assay evidence used in manual assertion PMID:24433482 20201002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:22404891 20181101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23595812 20181101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11992262 20181101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19840113 20181101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19394408 20181101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:1107 esophageal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25724470 20210624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_implicated_in DOID:784 chronic kidney disease ECO:0000314 direct assay evidence used in manual assertion PMID:23467111 20130404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:3347 osteosarcoma ECO:0000314 direct assay evidence used in manual assertion PMID:17458711 20140515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:3347 osteosarcoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17479108 20140515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19851870 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:874 bacterial pneumonia ECO:0000314 direct assay evidence used in manual assertion PMID:7546648 20160126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_implicated_in DOID:12466 secondary hyperparathyroidism ECO:0000314 direct assay evidence used in manual assertion PMID:23529273 20130418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_implicated_in DOID:12466 secondary hyperparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12046039 20130418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:19116915 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17228327 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30908 RSAD2 is_implicated_in DOID:1273 respiratory syncytial virus infectious disease ECO:0000314 direct assay evidence used in manual assertion PMID:23018837 20161020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:5744 ovary serous adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:1310251 20080318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9143 PHOX2B is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:22552777 20220502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9956 RELB is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:9724088 20140106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:9929165 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:10374842 20100621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_implicated_in DOID:0050625 biliary tract benign neoplasm ECO:0000314 direct assay evidence used in manual assertion PMID:19129927 20100505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:13922 eosinophilic esophagitis ECO:0000314 direct assay evidence used in manual assertion PMID:24486052 20160428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17522834 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16242928 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:1407 anterior uveitis ECO:0000314 direct assay evidence used in manual assertion PMID:17389503 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19964 VASH1 is_implicated_in DOID:10762 portal hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:24390792 20191107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_implicated_in DOID:3347 osteosarcoma ECO:0000314 direct assay evidence used in manual assertion PMID:22688001 20130424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:31546024 20200303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 is_implicated_in DOID:8725 vascular dementia ECO:0000314 direct assay evidence used in manual assertion PMID:16082694 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9395 PRKCB is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28422739 20180110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:13241 Behcet's disease ECO:0000314 direct assay evidence used in manual assertion PMID:15849757 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9676 PTPRN is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:19741189 20091002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11158 SNRPD1 is_implicated_in DOID:576 proteinuria ECO:0000314 direct assay evidence used in manual assertion PMID:16418806 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:22114497 20120531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10768 SF3B1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:29954402 20210423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10768 SF3B1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33038489 20210423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7734 NEFM is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0000314 direct assay evidence used in manual assertion PMID:26033855 20201207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8977 PIK3CD is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:25366420 20170913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:32010578 20211129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_implicated_in DOID:11716 prediabetes syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:17587402 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:3393 coronary artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:31499127 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27066539 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27893421 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30777881 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29784573 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27517945 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11209 SP4 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:15972724 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0000314 direct assay evidence used in manual assertion PMID:18212516 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20650298 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:841 extrinsic allergic alveolitis ECO:0000314 direct assay evidence used in manual assertion PMID:15653992 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:14592844 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7323 SEPTIN9 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:33504902 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_implicated_in DOID:13949 interstitial cystitis ECO:0000314 direct assay evidence used in manual assertion PMID:20227820 20130422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9882 RASSF1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18702824 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:9748134 20080403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF is_implicated_in DOID:2355 anemia ECO:0000314 direct assay evidence used in manual assertion PMID:23680589 20130524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11867 TMEFF2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16234815 20080314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:289 endometriosis ECO:0000314 direct assay evidence used in manual assertion PMID:21741153 20130711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:289 endometriosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21481092 20130711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:1520 colon carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18657413 20191107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:23699600 20230928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:3021 acute kidney failure ECO:0000314 direct assay evidence used in manual assertion PMID:19092124 20160615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8033 NTRK3 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:33593392 20211020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8033 NTRK3 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:28105243 20211020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10305 RPL14 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:12051391 20160217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:15869407 20200512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19731237 20200512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_implicated_in DOID:3525 middle cerebral artery infarction ECO:0000314 direct assay evidence used in manual assertion PMID:20691195 20151211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:2741 bilirubin metabolic disorder ECO:0000314 direct assay evidence used in manual assertion PMID:15753292 20190802 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:2741 bilirubin metabolic disorder ECO:0000314 direct assay evidence used in manual assertion PMID:16609363 20190802 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:2741 bilirubin metabolic disorder ECO:0000314 direct assay evidence used in manual assertion PMID:21993917 20190802 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:2741 bilirubin metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190802 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:2741 bilirubin metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10091405 20190802 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_implicated_in DOID:3525 middle cerebral artery infarction ECO:0000314 direct assay evidence used in manual assertion PMID:22324418 20170420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10964 SLC22A18 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23243219 20220105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_implicated_in DOID:224 transient cerebral ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:18067952 20160425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:1909 melanoma ECO:0000314 direct assay evidence used in manual assertion PMID:15757900 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9865 RARB is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18349282 20180110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9865 RARB is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23599765 20180110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_implicated_in DOID:10825 essential hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:1152295 20210401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0000314 direct assay evidence used in manual assertion PMID:25150498 20151214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_implicated_in DOID:9651 systolic heart failure ECO:0000314 direct assay evidence used in manual assertion PMID:23122795 20130723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:22861364 20130604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:11832 visual epilepsy ECO:0000314 direct assay evidence used in manual assertion PMID:23333565 20130611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9677 PTPRN2 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:18193190 20090729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12585 UQCRC1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:26943237 20181226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:1407 anterior uveitis ECO:0000314 direct assay evidence used in manual assertion PMID:17389503 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9919 RBP1 is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:23699600 20230928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:19027876 20110708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19591959 20110708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15971 TSG101 is_implicated_in DOID:2893 cervix carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:10505033 20080401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15971 TSG101 is_implicated_in DOID:2893 cervix carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:10600297 20080401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11598 TBX20 is_implicated_in DOID:1657 ventricular septal defect ECO:0000314 direct assay evidence used in manual assertion PMID:30084275 20230131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8981 PIK3R3 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:24632606 20170914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:15901895 20090729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:16724515 20090729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:10534 stomach cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12469139 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:2450 central retinal vein occlusion ECO:0000314 direct assay evidence used in manual assertion PMID:20688738 20160614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:22011479 20120608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:8466 retinal degeneration ECO:0000314 direct assay evidence used in manual assertion PMID:10600408 20140512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:20033209 20130206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:16369462 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR is_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0000314 direct assay evidence used in manual assertion PMID:20237164 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR is_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22673349 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12724 VTN is_implicated_in DOID:0060903 thrombosis ECO:0000314 direct assay evidence used in manual assertion PMID:15069014 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9882 RASSF1 is_implicated_in DOID:2871 endometrial carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18469797 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11178 SOAT2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16274362 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:10766168 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16757110 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11251 SPOCK1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:30710422 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25499257 20180131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16533775 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11254 SPOP is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:28032859 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:783 end stage renal disease ECO:0000314 direct assay evidence used in manual assertion PMID:17869326 20130305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9221 POU5F1 is_implicated_in DOID:4440 seminoma ECO:0000314 direct assay evidence used in manual assertion PMID:17549357 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:3770 pulmonary fibrosis ECO:0000314 direct assay evidence used in manual assertion PMID:20061390 20100928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:1324 lung cancer ECO:0000314 direct assay evidence used in manual assertion PMID:11139314 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32063627 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 is_implicated_in DOID:0110429 dilated cardiomyopathy 1H ECO:0000314 direct assay evidence used in manual assertion PMID:12056860 20141202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:1324 lung cancer ECO:0000314 direct assay evidence used in manual assertion PMID:15213518 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11209 SP4 is_implicated_in DOID:1682 congenital heart disease ECO:0000314 direct assay evidence used in manual assertion PMID:15907824 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:21654517 20160426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9121 PMS1 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:15856462 20100513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:2559 opiate dependence ECO:0000314 direct assay evidence used in manual assertion PMID:28121474 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:2559 opiate dependence ECO:0000314 direct assay evidence used in manual assertion PMID:29564682 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18181266 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23226066 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31853823 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12815747 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24086514 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32492095 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29781244 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27958381 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:24200746 20151214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:24842895 20170424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 is_implicated_in DOID:3459 breast carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:12374673 20080403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11155 SNRPB2 is_implicated_in DOID:65 connective tissue disease ECO:0000314 direct assay evidence used in manual assertion PMID:2968364 20160202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:26175272 20200120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11150 SNRNP70 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:22454191 20151208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19129927 20100507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18383873 20100507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18575732 20100507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18039393 20100507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9951 REG1A is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:9564847 20150327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11291 SRF is_implicated_in DOID:0050700 cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:12874181 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9882 RASSF1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17645803 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30796 STRAP is_implicated_in DOID:299 adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16778189 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:22268141 20120529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:0080162 lupus nephritis ECO:0000314 direct assay evidence used in manual assertion PMID:22846145 20130610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18082200 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:26381519 20160610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 is_implicated_in DOID:11247 disseminated intravascular coagulation ECO:0000314 direct assay evidence used in manual assertion PMID:2679067 20160212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 is_implicated_in DOID:0060466 gingival fibromatosis ECO:0000314 direct assay evidence used in manual assertion PMID:11868160 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 is_implicated_in DOID:0060466 gingival fibromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 is_implicated_in DOID:8805 intermediate coronary syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:8122184 20160212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:0111902 thrombophilia due to activated protein C resistance ECO:0000314 direct assay evidence used in manual assertion PMID:25196808 20160610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 is_implicated_in DOID:9351 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:12830380 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11158 SNRPD1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:12571858 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_implicated_in DOID:11247 disseminated intravascular coagulation ECO:0000314 direct assay evidence used in manual assertion PMID:8292719 20160630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_implicated_in DOID:11247 disseminated intravascular coagulation ECO:0000314 direct assay evidence used in manual assertion PMID:8929465 20160630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11159 SNRPD2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:11823543 20160208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16458425 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:15990193 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_implicated_in DOID:0070355 overactive bladder syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:17050722 20130423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:0070094 oculocutaneous albinism type IA ECO:0000314 direct assay evidence used in manual assertion PMID:19436266 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:0070094 oculocutaneous albinism type IA ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:0070094 oculocutaneous albinism type IA ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8996965 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:0070094 oculocutaneous albinism type IA ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22088535 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:0070094 oculocutaneous albinism type IA ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20447099 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1574 alcohol use disorder ECO:0000314 direct assay evidence used in manual assertion PMID:20838391 20120329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:12939547 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:14566 disease of cellular proliferation ECO:0000314 direct assay evidence used in manual assertion PMID:15776015 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30796 STRAP is_implicated_in DOID:4552 large cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16778189 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0000314 direct assay evidence used in manual assertion PMID:9926163 20110223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:2237 hepatitis ECO:0000314 direct assay evidence used in manual assertion PMID:15712659 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8940 PHYH is_implicated_in DOID:906 peroxisomal disease ECO:0000314 direct assay evidence used in manual assertion PMID:9266377 20181221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30635 SOX30 is_implicated_in DOID:1324 lung cancer ECO:0000314 direct assay evidence used in manual assertion PMID:25435374 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30635 SOX30 is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25435374 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9206 PON3 is_implicated_in DOID:1936 atherosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:20182519 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9376 PRKAA1 is_implicated_in DOID:12858 Huntington's disease ECO:0000314 direct assay evidence used in manual assertion PMID:21768291 20120621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_implicated_in DOID:0060189 ileitis ECO:0000314 direct assay evidence used in manual assertion PMID:23835442 20190701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:9743 diabetic neuropathy ECO:0000314 direct assay evidence used in manual assertion PMID:26201024 20160513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:27133036 20220106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16179351 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:10286 prostate carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11987152 20080709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:10286 prostate carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18210874 20080709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10854 SHOX2 is_implicated_in DOID:1324 lung cancer ECO:0000314 direct assay evidence used in manual assertion PMID:25331797 20170412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11132 SNAP25 is_implicated_in DOID:14250 Down syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:12499044 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_implicated_in DOID:4467 clear cell renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23879920 20180206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16421 SOX6 is_implicated_in DOID:3070 high grade glioma ECO:0000314 direct assay evidence used in manual assertion PMID:15696967 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:2224 essential thrombocythemia ECO:0000314 direct assay evidence used in manual assertion PMID:25876231 20160517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9460 PROZ is_implicated_in DOID:13241 Behcet's disease ECO:0000314 direct assay evidence used in manual assertion PMID:14507116 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:10003 sensorineural hearing loss ECO:0000314 direct assay evidence used in manual assertion PMID:23165380 20131030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:10003 sensorineural hearing loss ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16988499 20131030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:16839409 20100927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 is_implicated_in DOID:552 pneumonia ECO:0000314 direct assay evidence used in manual assertion PMID:16842247 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:0001816 angiosarcoma ECO:0000314 direct assay evidence used in manual assertion PMID:18700251 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_implicated_in DOID:783 end stage renal disease ECO:0000314 direct assay evidence used in manual assertion PMID:19169037 20130422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9201 POMC is_implicated_in DOID:2987 familial mediterranean fever ECO:0000314 direct assay evidence used in manual assertion PMID:21428190 20111024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0000314 direct assay evidence used in manual assertion PMID:28891831 20191025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:15761492 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8861 PF4 is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:21693026 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:1749 squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16043897 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:10591 pre-eclampsia ECO:0000314 direct assay evidence used in manual assertion PMID:9065198 20161116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8582 PAH is_implicated_in DOID:1059 intellectual disability ECO:0000314 direct assay evidence used in manual assertion PMID:14654659 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11160 SNRPD3 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:17640359 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7734 NEFM is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:17687114 20150223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14524 SPAG9 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:29344208 20200612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9112 PMF1 is_implicated_in DOID:4007 bladder carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:22682992 20200611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:12531 von Willebrand's disease ECO:0000314 direct assay evidence used in manual assertion PMID:26239086 20160516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7652 NBN is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16424057 20080808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_implicated_in DOID:0050459 hyperphosphatemia ECO:0000314 direct assay evidence used in manual assertion PMID:23211335 20130416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_implicated_in DOID:1485 cystic fibrosis ECO:0000314 direct assay evidence used in manual assertion PMID:11890749 20110602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14760158 20110602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11158 SNRPD1 is_implicated_in DOID:65 connective tissue disease ECO:0000314 direct assay evidence used in manual assertion PMID:2477448 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_implicated_in DOID:0040085 bacterial sepsis ECO:0000314 direct assay evidence used in manual assertion PMID:21507332 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11195 SOX2 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:22832207 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11195 SOX2 is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22561374 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12417 TUBG1 is_implicated_in DOID:3429 inclusion body myositis ECO:0000314 direct assay evidence used in manual assertion PMID:15912881 20070731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:3042 allergic contact dermatitis ECO:0000314 direct assay evidence used in manual assertion PMID:20711192 20140103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2723 dermatitis ECO:0000314 direct assay evidence used in manual assertion PMID:3171214 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:2921 glomerulonephritis ECO:0000314 direct assay evidence used in manual assertion PMID:15195119 20131122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:10286 prostate carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16331611 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11764 TG is_implicated_in DOID:12361 Graves' disease ECO:0000314 direct assay evidence used in manual assertion PMID:14636875 20140314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11764 TG is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22662162 20140314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11764 TG is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17550957 20140314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:4247 coronary restenosis ECO:0000314 direct assay evidence used in manual assertion PMID:16373617 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_implicated_in DOID:2451 protein S deficiency ECO:0000314 direct assay evidence used in manual assertion PMID:23079294 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9670 PTPRF is_implicated_in DOID:2018 hyperinsulinism ECO:0000314 direct assay evidence used in manual assertion PMID:11309481 20071011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12681 VEGFB is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:12547729 20070622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:12986 leukostasis ECO:0000314 direct assay evidence used in manual assertion PMID:16797605 20140512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0000314 direct assay evidence used in manual assertion PMID:15293270 20140210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:0050156 idiopathic pulmonary fibrosis ECO:0000314 direct assay evidence used in manual assertion PMID:20203246 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:0050156 idiopathic pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21319594 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR is_implicated_in DOID:0050700 cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:8796147 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14001 PRDM14 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:27777637 20220708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10302 RPL12 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:11161982 20160211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:11446 sciatic neuropathy ECO:0000314 direct assay evidence used in manual assertion PMID:10441236 20140512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11100 SMARCA4 is_not_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12684665 20081226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:16552785 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_implicated_in DOID:14735 hereditary angioedema ECO:0000314 direct assay evidence used in manual assertion PMID:22800873 20140610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_implicated_in DOID:1073 renal hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:15241786 20130813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11904 TNFRSF10A is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:16531263 20160222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:22374428 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15374974 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21740845 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17639043 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:399 tuberculosis ECO:0000314 direct assay evidence used in manual assertion PMID:15863395 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:15295049 20110225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21113676 20110225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:8568 infectious mononucleosis ECO:0000314 direct assay evidence used in manual assertion PMID:7964476 20160215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:8283 peritonitis ECO:0000314 direct assay evidence used in manual assertion PMID:18571586 20120612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:31258545 20231009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:11737043 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:15970685 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 is_implicated_in DOID:3407 carotid artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:12801623 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11291 SRF is_implicated_in DOID:3319 lymphangioleiomyomatosis ECO:0000314 direct assay evidence used in manual assertion PMID:12654640 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9865 RARB is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:26695082 20180110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1596 depressive disorder ECO:0000314 direct assay evidence used in manual assertion PMID:20808944 20200921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20664233 20200921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23096047 20200921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22134442 20200921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20981038 20200921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30582858 20200921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23571152 20200921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:13207 proliferative diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:11723044 20140512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15582 MUC16 is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18641636 20130926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4606 PDIA3 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0000314 direct assay evidence used in manual assertion PMID:20208391 20150409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11633 TCF3 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19828471 20170915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11633 TCF3 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23940558 20170915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:21959345 20120113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_implicated_in DOID:2988 antiphospholipid syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:16320350 20150213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10830 SH3GL1 is_implicated_in DOID:3070 high grade glioma ECO:0000314 direct assay evidence used in manual assertion PMID:23050879 20171218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:3770 pulmonary fibrosis ECO:0000314 direct assay evidence used in manual assertion PMID:7516275 20130305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19964 VASH1 is_implicated_in DOID:5082 liver cirrhosis ECO:0000314 direct assay evidence used in manual assertion PMID:24390792 20191107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000314 direct assay evidence used in manual assertion PMID:15094225 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:13378 Kawasaki disease ECO:0000314 direct assay evidence used in manual assertion PMID:14703611 20140917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18710885 20140917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14744383 20140917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:8741 seborrheic dermatitis ECO:0000314 direct assay evidence used in manual assertion PMID:21566548 20140506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:15630488 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10479 RXRG is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:20113835 20180110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_implicated_in DOID:8719 in situ carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:19763613 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12724 VTN is_implicated_in DOID:12132 granulomatosis with polyangiitis ECO:0000314 direct assay evidence used in manual assertion PMID:12126637 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8831 PENK is_implicated_in DOID:0070355 overactive bladder syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:23316929 20150430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:14453 farmer's lung ECO:0000314 direct assay evidence used in manual assertion PMID:11179110 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:14453 farmer's lung ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11179110 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11768 TGFB2 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19661324 20170918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9399 PRKCD is_implicated_in DOID:9452 steatotic liver disease ECO:0000314 direct assay evidence used in manual assertion PMID:17596878 20070925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9380 PRKACA is_implicated_in DOID:6000 congestive heart failure ECO:0000314 direct assay evidence used in manual assertion PMID:10830164 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT is_implicated_in DOID:224 transient cerebral ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:25603815 20180813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9221 POU5F1 is_implicated_in DOID:3308 embryonal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17549357 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_implicated_in DOID:3526 cerebral infarction ECO:0000314 direct assay evidence used in manual assertion PMID:10446335 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12417 TUBG1 is_implicated_in DOID:0080000 muscular disease ECO:0000314 direct assay evidence used in manual assertion PMID:15912881 20070731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF is_implicated_in DOID:0050425 restless legs syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:23369046 20130524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9121 PMS1 is_implicated_in DOID:10223 dermatomyositis ECO:0000314 direct assay evidence used in manual assertion PMID:15856462 20100513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 is_implicated_in DOID:2921 glomerulonephritis ECO:0000314 direct assay evidence used in manual assertion PMID:18558621 20120927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:657 adenoma ECO:0000314 direct assay evidence used in manual assertion PMID:29945573 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9071 PLG is_implicated_in DOID:0080600 COVID-19 ECO:0000314 direct assay evidence used in manual assertion PMID:32275753 20200619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11898 TNFAIP6 is_implicated_in DOID:11382 corneal neovascularization ECO:0000314 direct assay evidence used in manual assertion PMID:20837529 20140107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9279 PDP1 is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:15897476 20071004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18414 UCN2 is_implicated_in DOID:10763 hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:19204182 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM is_implicated_in DOID:13241 Behcet's disease ECO:0000314 direct assay evidence used in manual assertion PMID:3780056 20120323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 is_implicated_in DOID:6000 congestive heart failure ECO:0000314 direct assay evidence used in manual assertion PMID:29593014 20230523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12693 VIP is_implicated_in DOID:13406 pulmonary sarcoidosis ECO:0000314 direct assay evidence used in manual assertion PMID:20442436 20120112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9882 RASSF1 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18480993 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:1936 atherosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:20182519 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 is_implicated_in DOID:3459 breast carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18205041 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:15908783 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_implicated_in DOID:14330 Parkinson's disease ECO:0000314 direct assay evidence used in manual assertion PMID:17448146 20180206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_implicated_in DOID:14330 Parkinson's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18178617 20180206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_implicated_in DOID:14330 Parkinson's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10678833 20180206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9197268 20180206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9462735 20180206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_implicated_in DOID:850 lung disease ECO:0000314 direct assay evidence used in manual assertion PMID:17974096 20100927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:768 retinoblastoma ECO:0000314 direct assay evidence used in manual assertion PMID:19832843 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11185 SORL1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:15313836 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17644139 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:783 end stage renal disease ECO:0000314 direct assay evidence used in manual assertion PMID:21378155 20130109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:783 end stage renal disease ECO:0000314 direct assay evidence used in manual assertion PMID:22189209 20130109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16061 PAK6 is_implicated_in DOID:4467 clear cell renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:24715215 20180207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11151 SNRPA is_implicated_in DOID:65 connective tissue disease ECO:0000314 direct assay evidence used in manual assertion PMID:2968364 20160202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9882 RASSF1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:27777637 20220708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30796 STRAP is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16778189 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:15743779 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:13406 pulmonary sarcoidosis ECO:0000314 direct assay evidence used in manual assertion PMID:15653992 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:13406 pulmonary sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20070603 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:13608 biliary atresia ECO:0000314 direct assay evidence used in manual assertion PMID:15845635 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_implicated_in DOID:10534 stomach cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19673023 20211123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:20401612 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:15542065 20070417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_implicated_in DOID:1307 dementia ECO:0000314 direct assay evidence used in manual assertion PMID:21473886 20151211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12724 VTN is_implicated_in DOID:3049 Churg-Strauss syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:12126637 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:26273687 20180503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:13025 retinopathy of prematurity ECO:0000314 direct assay evidence used in manual assertion PMID:14638747 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 is_implicated_in DOID:10286 prostate carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11912448 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9315 PPP3CB is_implicated_in DOID:1712 aortic valve stenosis ECO:0000314 direct assay evidence used in manual assertion PMID:15533858 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_implicated_in DOID:9675 pulmonary emphysema ECO:0000314 direct assay evidence used in manual assertion PMID:19941265 20110208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_implicated_in DOID:9675 pulmonary emphysema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21030517 20110208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10805 SGCA is_implicated_in DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ECO:0000314 direct assay evidence used in manual assertion PMID:17653106 20180611 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10805 SGCA is_implicated_in DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180611 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:17491674 20090807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:22399516 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF is_implicated_in DOID:77 gastrointestinal system disease ECO:0000314 direct assay evidence used in manual assertion PMID:23055815 20130528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19382 SOCS2 is_implicated_in DOID:1380 endometrial cancer ECO:0000314 direct assay evidence used in manual assertion PMID:15159323 20080801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11433 STX1A is_implicated_in DOID:10487 Hirschsprung's disease ECO:0000314 direct assay evidence used in manual assertion PMID:11345516 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_implicated_in DOID:3030 mucinous adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:20357691 20100505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_implicated_in DOID:11713 diabetic angiopathy ECO:0000314 direct assay evidence used in manual assertion PMID:18945481 20090729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:6196 reactive arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:14687717 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:1909 melanoma ECO:0000314 direct assay evidence used in manual assertion PMID:22834951 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_implicated_in DOID:0060573 von Willebrand's disease 1 ECO:0000314 direct assay evidence used in manual assertion PMID:1419807 20161012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC is_implicated_in DOID:2871 endometrial carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17487382 20080829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:3798 pleural empyema ECO:0000314 direct assay evidence used in manual assertion PMID:20304453 20110125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_implicated_in DOID:2513 basal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23284750 20170331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 is_implicated_in DOID:114 heart disease ECO:0000314 direct assay evidence used in manual assertion PMID:16014615 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 is_implicated_in DOID:114 heart disease ECO:0000314 direct assay evidence used in manual assertion PMID:16840738 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A is_implicated_in DOID:0050439 Usher syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:23991031 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A is_implicated_in DOID:0050439 Usher syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12112664 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A is_implicated_in DOID:0050439 Usher syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A is_implicated_in DOID:0050439 Usher syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8900236 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9882 RASSF1 is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16545186 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:14115 toxic shock syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:21850534 20160614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM is_implicated_in DOID:1936 atherosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:21362765 20120328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC is_implicated_in DOID:10140 dry eye syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:17982500 20130925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10718 SELE is_implicated_in DOID:2316 brain ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:19107136 20091002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 is_implicated_in DOID:8778 Crohn's disease ECO:0000314 direct assay evidence used in manual assertion PMID:22021194 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:23093296 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26068031 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:12689 acoustic neuroma ECO:0000314 direct assay evidence used in manual assertion PMID:14660915 20140303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9882 RASSF1 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18483325 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9882 RASSF1 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18425370 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9317 PPP3R1 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:15012912 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10806 SGCB is_implicated_in DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E ECO:0000314 direct assay evidence used in manual assertion PMID:28284983 20180611 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10806 SGCB is_implicated_in DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180611 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:15026365 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:14717981 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC is_implicated_in DOID:2893 cervix carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16434596 20080829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:7147 ankylosing spondylitis ECO:0000314 direct assay evidence used in manual assertion PMID:21317434 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10773 SFN is_implicated_in DOID:2671 transitional cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16964403 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11867 TMEFF2 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16458425 20080314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11867 TMEFF2 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15299075 20080314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:15700117 20120106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10333 RPL30 is_implicated_in DOID:8566 herpes simplex ECO:0000314 direct assay evidence used in manual assertion PMID:7588575 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:24395279 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21153698 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16614128 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24076439 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24606430 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:11758 iron deficiency anemia ECO:0000314 direct assay evidence used in manual assertion PMID:26926576 20161013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8591 PAK2 is_implicated_in DOID:0060074 ductal carcinoma in situ ECO:0000314 direct assay evidence used in manual assertion PMID:22886747 20131230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9882 RASSF1 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17960617 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:0060224 atrial fibrillation ECO:0000314 direct assay evidence used in manual assertion PMID:21497043 20130109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9112 PMF1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19088041 20200611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30635 SOX30 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:30312695 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_implicated_in DOID:1825 childhood absence epilepsy ECO:0000314 direct assay evidence used in manual assertion PMID:17331209 20151209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12014 TPMT is_implicated_in DOID:615 leukopenia ECO:0000314 direct assay evidence used in manual assertion PMID:24322830 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12014 TPMT is_implicated_in DOID:615 leukopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20308917 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12014 TPMT is_implicated_in DOID:615 leukopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16044099 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_implicated_in DOID:11247 disseminated intravascular coagulation ECO:0000314 direct assay evidence used in manual assertion PMID:23952647 20160219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_implicated_in DOID:11247 disseminated intravascular coagulation ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21569368 20160219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:18813209 20151105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11157 SNRPC is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:8647956 20160205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:22348216 20161013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15136237 20161013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_implicated_in DOID:0080909 castration-resistant prostate carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28498618 20200608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:2355 anemia ECO:0000314 direct assay evidence used in manual assertion PMID:17324148 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:289 endometriosis ECO:0000314 direct assay evidence used in manual assertion PMID:23466670 20140513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:21792832 20120323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:5425 ovarian hyperstimulation syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:23295464 20140513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8104 OCLN is_implicated_in DOID:8778 Crohn's disease ECO:0000314 direct assay evidence used in manual assertion PMID:21748286 20160706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30796 STRAP is_implicated_in DOID:3905 lung carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16778189 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12700280 20100402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18205184 20100402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8023 NTF3 is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:11737043 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_implicated_in DOID:0060074 ductal carcinoma in situ ECO:0000314 direct assay evidence used in manual assertion PMID:17060931 20091216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15971 TSG101 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:9444960 20080401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7910 NPM1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:25992555 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7910 NPM1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24184354 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7910 NPM1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7910 NPM1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17957027 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7910 NPM1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15659725 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11433 STX1A is_implicated_in DOID:11949 Creutzfeldt-Jakob disease ECO:0000314 direct assay evidence used in manual assertion PMID:10842016 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:4195 hyperglycemia ECO:0000314 direct assay evidence used in manual assertion PMID:23267397 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7661 NCF2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:10873554 20091116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:3429 inclusion body myositis ECO:0000314 direct assay evidence used in manual assertion PMID:11837748 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:7994806 20161007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11848437 20161007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 is_implicated_in DOID:14557 primary pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:23972212 20230519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:4449 macular retinal edema ECO:0000314 direct assay evidence used in manual assertion PMID:21139695 20140514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_implicated_in DOID:4001 ovarian carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:15361843 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:2938 Epstein-Barr virus infectious disease ECO:0000314 direct assay evidence used in manual assertion PMID:19339266 20210622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11200 SOX4 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16585165 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_implicated_in DOID:5082 liver cirrhosis ECO:0000314 direct assay evidence used in manual assertion PMID:23841464 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:29945573 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21672615 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31090204 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30420492 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14732927 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_implicated_in DOID:769 neuroblastoma ECO:0000314 direct assay evidence used in manual assertion PMID:22174364 20120706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:1907 malignant fibrous histiocytoma ECO:0000314 direct assay evidence used in manual assertion PMID:23166610 20130320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_implicated_in DOID:4989 pancreatitis ECO:0000314 direct assay evidence used in manual assertion PMID:9176084 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11157 SNRPC is_implicated_in DOID:65 connective tissue disease ECO:0000314 direct assay evidence used in manual assertion PMID:2968364 20160202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14524 SPAG9 is_implicated_in DOID:5082 liver cirrhosis ECO:0000314 direct assay evidence used in manual assertion PMID:29344208 20200612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:14507115 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:12716 newborn respiratory distress syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:12490037 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:12716 newborn respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7832777 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:12716 newborn respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12424586 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:12716 newborn respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11063734 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:4481 allergic rhinitis ECO:0000314 direct assay evidence used in manual assertion PMID:17069098 20140120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22402138 20140120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23639307 20140120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:19109152 20100506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18713982 20100506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_implicated_in DOID:10762 portal hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:12854169 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:13141 uveitis ECO:0000314 direct assay evidence used in manual assertion PMID:1318867 20131106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:13141 uveitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20673052 20131106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:11139314 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:11103943 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14732927 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16950799 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:224 transient cerebral ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:21531066 20140527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:224 transient cerebral ischemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17110031 20140527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:12213730 20100519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:20709825 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM is_implicated_in DOID:12894 Sjogren's syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:6352937 20120323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16 SERPINA3 is_implicated_in DOID:1485 cystic fibrosis ECO:0000314 direct assay evidence used in manual assertion PMID:11120905 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_implicated_in DOID:3068 glioblastoma ECO:0000314 direct assay evidence used in manual assertion PMID:11204276 20180817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11913 TNFRSF17 is_implicated_in DOID:1520 colon carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11104810 20100326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11157 SNRPC is_implicated_in DOID:3492 mixed connective tissue disease ECO:0000314 direct assay evidence used in manual assertion PMID:10555891 20160205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_implicated_in DOID:0060186 chemical colitis ECO:0000314 direct assay evidence used in manual assertion PMID:23835442 20190701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:2988 antiphospholipid syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:25196808 20160610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11925 TNFSF10 is_implicated_in DOID:0050685 small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16313792 20090901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9391 PRKAR2A is_implicated_in DOID:6000 congestive heart failure ECO:0000314 direct assay evidence used in manual assertion PMID:10830164 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15971 TSG101 is_implicated_in DOID:2870 endometrial adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:10027311 20080401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_implicated_in DOID:14115 toxic shock syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:8172580 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:0060903 thrombosis ECO:0000314 direct assay evidence used in manual assertion PMID:8073406 20160615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_implicated_in DOID:13141 uveitis ECO:0000314 direct assay evidence used in manual assertion PMID:19440225 20181205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:14503 neuronal ceroid lipofuscinosis ECO:0000314 direct assay evidence used in manual assertion PMID:12946273 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_implicated_in DOID:9008 psoriatic arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:22751595 20120720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12015 TPO is_implicated_in DOID:2921 glomerulonephritis ECO:0000314 direct assay evidence used in manual assertion PMID:8393543 20130205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3040 RCAN1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:11483593 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 is_implicated_in DOID:8947 diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:12663605 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:17639095 20130729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_implicated_in DOID:12134 factor VIII deficiency ECO:0000314 direct assay evidence used in manual assertion PMID:1419807 20161012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11153 SNRPB is_implicated_in DOID:3492 mixed connective tissue disease ECO:0000314 direct assay evidence used in manual assertion PMID:2968364 20151208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8590 PAK1 is_implicated_in DOID:5419 schizophrenia ECO:0000314 direct assay evidence used in manual assertion PMID:22458949 20160913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8066 NUP62 is_implicated_in DOID:12236 primary biliary cholangitis ECO:0000314 direct assay evidence used in manual assertion PMID:12753810 20150303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18181043 20121120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_implicated_in DOID:8283 peritonitis ECO:0000314 direct assay evidence used in manual assertion PMID:18571586 20120612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:8869094 20130923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0000314 direct assay evidence used in manual assertion PMID:23869988 20201113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:24530621 20140514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:2340 craniosynostosis ECO:0000314 direct assay evidence used in manual assertion PMID:19627528 20151203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11913 TNFRSF17 is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:15692072 20100326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8940 PHYH is_implicated_in DOID:10582 Refsum disease ECO:0000314 direct assay evidence used in manual assertion PMID:10709665 20181227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8940 PHYH is_implicated_in DOID:10582 Refsum disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 is_implicated_in DOID:0060058 lymphoma ECO:0000314 direct assay evidence used in manual assertion PMID:17609424 20120521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_implicated_in DOID:14115 toxic shock syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:11776329 20160425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:2452 thrombophilia ECO:0000314 direct assay evidence used in manual assertion PMID:24189967 20160610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:2452 thrombophilia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7881411 20160610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:2452 thrombophilia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2437584 20160610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9865 RARB is_implicated_in DOID:7596 asbestos-related lung carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28722770 20180110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11150 SNRNP70 is_implicated_in DOID:150 disease of mental health ECO:0000314 direct assay evidence used in manual assertion PMID:22454191 20151208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:15644403 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:12361 Graves' disease ECO:0000314 direct assay evidence used in manual assertion PMID:11980614 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:3458 breast adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:12536235 20191024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:552 pneumonia ECO:0000314 direct assay evidence used in manual assertion PMID:18664626 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:552 pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20811626 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8877 PFKM is_implicated_in DOID:11721 glycogen storage disease VII ECO:0000314 direct assay evidence used in manual assertion PMID:1533013 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8877 PFKM is_implicated_in DOID:11721 glycogen storage disease VII ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_implicated_in DOID:12217 Lewy body dementia ECO:0000314 direct assay evidence used in manual assertion PMID:10674474 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_implicated_in DOID:1307 dementia ECO:0000314 direct assay evidence used in manual assertion PMID:10674474 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7467 MTTP is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0000314 direct assay evidence used in manual assertion PMID:17215532 20070611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9882 RASSF1 is_implicated_in DOID:4362 cervical cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18608185 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:16208410 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10773 SFN is_implicated_in DOID:2101 vulva squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11896620 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_implicated_in DOID:10881 hand, foot and mouth disease ECO:0000314 direct assay evidence used in manual assertion PMID:31638922 20210617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0000314 direct assay evidence used in manual assertion PMID:9844059 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19447874 20091216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 is_implicated_in DOID:3393 coronary artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:10811593 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:29432829 20190522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25541958 20190522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20572305 20190522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:26205779 20160504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9031 PLA2G2A is_implicated_in DOID:11151 cholecystolithiasis ECO:0000314 direct assay evidence used in manual assertion PMID:9695991 20120427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:3310 atopic dermatitis ECO:0000314 direct assay evidence used in manual assertion PMID:17531301 20140506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22032785 20140506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19627277 20140506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:13141 uveitis ECO:0000314 direct assay evidence used in manual assertion PMID:9008650 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12428 TWIST1 is_implicated_in DOID:3459 breast carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:27524420 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_implicated_in DOID:3068 glioblastoma ECO:0000314 direct assay evidence used in manual assertion PMID:20458050 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25683523 20220601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25339005 20220601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28416747 20220601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25123086 20220601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26575952 20220601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23907815 20220601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:24043769 20160505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25573287 20160505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24836762 20160505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:23043161 20140731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11152 SNRPA1 is_implicated_in DOID:65 connective tissue disease ECO:0000314 direct assay evidence used in manual assertion PMID:2968364 20160202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:12759928 20220112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:2377 multiple sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:11721059 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15885319 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:1227 neutropenia ECO:0000314 direct assay evidence used in manual assertion PMID:15986200 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_implicated_in DOID:2043 hepatitis B ECO:0000314 direct assay evidence used in manual assertion PMID:31770816 20201123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28667037 20201123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29786123 20201123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10062 RNF20 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18832071 20150305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:9452 steatotic liver disease ECO:0000314 direct assay evidence used in manual assertion PMID:30905785 20190523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7632 NAGLU is_implicated_in DOID:12801 mucopolysaccharidosis III ECO:0000314 direct assay evidence used in manual assertion PMID:11136549 20130222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7632 NAGLU is_implicated_in DOID:12801 mucopolysaccharidosis III ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11668611 20130222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11598 TBX20 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0000314 direct assay evidence used in manual assertion PMID:31138201 20230131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 is_implicated_in DOID:3525 middle cerebral artery infarction ECO:0000314 direct assay evidence used in manual assertion PMID:17882163 20171213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11158 SNRPD1 is_implicated_in DOID:10952 nephritis ECO:0000314 direct assay evidence used in manual assertion PMID:11771960 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30035 PIK3R5 is_implicated_in DOID:219 colon cancer ECO:0000314 direct assay evidence used in manual assertion PMID:15123805 20170914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:26826269 20180419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18947433 20180419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:23094058 20150508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19382 SOCS2 is_implicated_in DOID:4001 ovarian carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:15361843 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:19065635 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9121 PMS1 is_implicated_in DOID:0080745 polymyositis ECO:0000314 direct assay evidence used in manual assertion PMID:15856462 20100513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:10763 hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:16716903 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12513 UCHL1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:14722078 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11761 TFPI2 is_implicated_in DOID:8466 retinal degeneration ECO:0000314 direct assay evidence used in manual assertion PMID:15184935 20160420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:83 cataract ECO:0000314 direct assay evidence used in manual assertion PMID:16254550 20140515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21921984 20140515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18349282 20210408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_implicated_in DOID:9351 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:17587402 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16047475 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:1210 optic neuritis ECO:0000314 direct assay evidence used in manual assertion PMID:17251466 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:13141 uveitis ECO:0000314 direct assay evidence used in manual assertion PMID:19553628 20140513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9677 PTPRN2 is_implicated_in DOID:11716 prediabetes syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:15004204 20090729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:1909 melanoma ECO:0000314 direct assay evidence used in manual assertion PMID:16094622 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23568549 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12014 TPMT is_implicated_in DOID:987 alopecia ECO:0000314 direct assay evidence used in manual assertion PMID:24322830 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:12145158 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18249216 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9769326 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 is_implicated_in DOID:14115 toxic shock syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:16732381 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0000314 direct assay evidence used in manual assertion PMID:9844059 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:10591 pre-eclampsia ECO:0000314 direct assay evidence used in manual assertion PMID:21505354 20110425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0000314 direct assay evidence used in manual assertion PMID:15156361 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:10933975 20190911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:9449371 20190911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:22265839 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21674174 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:24366688 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6601 LIG4 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:24282031 20140723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5423 IFNA2 is_implicated_in DOID:2043 hepatitis B ECO:0000314 direct assay evidence used in manual assertion PMID:8509638 20201207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:0050847 sleep apnea ECO:0000314 direct assay evidence used in manual assertion PMID:19187612 20101210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:13141 uveitis ECO:0000314 direct assay evidence used in manual assertion PMID:17392164 20140328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:13141 uveitis ECO:0000314 direct assay evidence used in manual assertion PMID:11481267 20140328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:1580 diffuse scleroderma ECO:0000314 direct assay evidence used in manual assertion PMID:8254199 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:6000 congestive heart failure ECO:0000314 direct assay evidence used in manual assertion PMID:12892382 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4432 GOT1 is_implicated_in DOID:224 transient cerebral ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:24407245 20180129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR is_implicated_in DOID:4448 macular degeneration ECO:0000314 direct assay evidence used in manual assertion PMID:7803358 20151007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3059 HBEGF is_implicated_in DOID:0050851 glomerulosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:16107576 20200908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6150 ITGAV is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0000314 direct assay evidence used in manual assertion PMID:16809548 20061108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:1417133 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0000314 direct assay evidence used in manual assertion PMID:16293969 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5044 HNRNPK is_implicated_in DOID:10300 Raynaud disease ECO:0000314 direct assay evidence used in manual assertion PMID:25172934 20221007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF is_implicated_in DOID:0080855 Parkinsonism ECO:0000314 direct assay evidence used in manual assertion PMID:16018990 20140529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:3263896 20140701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:2787951 20140701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:21737484 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:31909823 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:29796114 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:29780264 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:29992492 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:31010820 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:33478584 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:25928810 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:32958500 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:27726312 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31320627 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33723131 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_implicated_in DOID:9246 cerebral amyloid angiopathy ECO:0000314 direct assay evidence used in manual assertion PMID:21382117 20181026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:10399774 20151027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0000314 direct assay evidence used in manual assertion PMID:21576701 20120524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_implicated_in DOID:5176 renal Wilms' tumor ECO:0000314 direct assay evidence used in manual assertion PMID:11431321 20220211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:11398072 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:16917945 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11709756 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17586032 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20868478 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12940513 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17823973 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17170387 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15479272 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18425216 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12133990 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:1107 esophageal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25724470 20210624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:24691442 20170907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4241 GFPT1 is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:11118009 20070608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6904 MAT2A is_implicated_in DOID:1324 lung cancer ECO:0000314 direct assay evidence used in manual assertion PMID:34258296 20220912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4191 GCG is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:23035082 20151021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1092 FOXL2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23599765 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:15025679 20090602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:13141 uveitis ECO:0000314 direct assay evidence used in manual assertion PMID:1318867 20131106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6169 ITIH4 is_implicated_in DOID:8805 intermediate coronary syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:10486281 20061106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5045 HNRNPL is_implicated_in DOID:418 systemic scleroderma ECO:0000314 direct assay evidence used in manual assertion PMID:21569507 20150420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0000314 direct assay evidence used in manual assertion PMID:8704686 20140701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21734238 20140701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:15701841 20080401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25405740 20170908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:8254199 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12508778 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH is_implicated_in DOID:0050167 autoimmune polyendocrine syndrome type 1 ECO:0000314 direct assay evidence used in manual assertion PMID:22506635 20151005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5112 HOXB13 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16278676 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6006 IL21R is_implicated_in DOID:13375 temporal arteritis ECO:0000314 direct assay evidence used in manual assertion PMID:22147555 20120821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:8398 osteoarthritis ECO:0000314 direct assay evidence used in manual assertion PMID:8254199 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0000314 direct assay evidence used in manual assertion PMID:3048654 20140710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:1240 leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:17205986 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0000314 direct assay evidence used in manual assertion PMID:21440078 20120524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:0050848 obstructive sleep apnea ECO:0000314 direct assay evidence used in manual assertion PMID:19652426 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:874 bacterial pneumonia ECO:0000314 direct assay evidence used in manual assertion PMID:7546648 20160126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:25907942 20181019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6518 LBR is_implicated_in DOID:12236 primary biliary cholangitis ECO:0000314 direct assay evidence used in manual assertion PMID:8550049 20141103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:680 tauopathy ECO:0000314 direct assay evidence used in manual assertion PMID:28721361 20181019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR is_implicated_in DOID:2349 arteriosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:12969990 20061026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:0050854 Muckle-Wells syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:22146561 20121019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:0080855 Parkinsonism ECO:0000314 direct assay evidence used in manual assertion PMID:27228974 20181026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6144 ITGA8 is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17303177 20081205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_implicated_in DOID:2871 endometrial carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21327300 20200207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:3328 temporal lobe epilepsy ECO:0000314 direct assay evidence used in manual assertion PMID:28595035 20181022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0000314 direct assay evidence used in manual assertion PMID:2786308 20140630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:2228 thrombocytosis ECO:0000314 direct assay evidence used in manual assertion PMID:2265245 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:2349 arteriosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:15621056 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0000314 direct assay evidence used in manual assertion PMID:19737230 20101213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0000314 direct assay evidence used in manual assertion PMID:10936026 20160128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:3183302 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:30018730 20220330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25050929 20220330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18129 GHRL is_implicated_in DOID:11981 morbid obesity ECO:0000314 direct assay evidence used in manual assertion PMID:19188925 20091013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:34974791 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:418 systemic scleroderma ECO:0000314 direct assay evidence used in manual assertion PMID:17049072 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17541304 20081016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13590 FBXO11 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:31778188 20220502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:8549 chronic ulcer of skin ECO:0000314 direct assay evidence used in manual assertion PMID:19638336 20100113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7413 MTAP is_implicated_in DOID:0050625 biliary tract benign neoplasm ECO:0000314 direct assay evidence used in manual assertion PMID:16373701 20100503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:3262172 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:21921332 20160726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:12952838 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:1993 rectum cancer ECO:0000314 direct assay evidence used in manual assertion PMID:28272402 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:10399774 20151027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23089282 20151027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4624 GSS is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:15693022 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4236 GFER is_implicated_in DOID:1074 kidney failure ECO:0000314 direct assay evidence used in manual assertion PMID:18929838 20150127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28989534 20211130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:0060500 drug allergy ECO:0000314 direct assay evidence used in manual assertion PMID:1549655 20140701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6846 MAP2K6 is_implicated_in DOID:4001 ovarian carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16489030 20080528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5112 HOXB13 is_implicated_in DOID:0060074 ductal carcinoma in situ ECO:0000314 direct assay evidence used in manual assertion PMID:19250546 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6357 KLK1 is_implicated_in DOID:0050700 cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:15117887 20070822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:27494902 20220314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:9206 Barrett's esophagus ECO:0000314 direct assay evidence used in manual assertion PMID:18664505 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9351 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:18451997 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9351 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:20034470 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9351 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19537357 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17855560 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:8947 diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:16643893 20061115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:12500159 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:15154012 20081002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:11751381 20081002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4432 GOT1 is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:26113413 20180201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5213 HSD17B4 is_implicated_in DOID:13366 Stiff-Person syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:12225901 20151110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN is_implicated_in DOID:12705 Friedreich ataxia ECO:0000314 direct assay evidence used in manual assertion PMID:32646255 20230814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN is_implicated_in DOID:12705 Friedreich ataxia ECO:0000314 direct assay evidence used in manual assertion PMID:37166361 20230814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN is_implicated_in DOID:12705 Friedreich ataxia ECO:0000314 direct assay evidence used in manual assertion PMID:22113996 20230814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN is_implicated_in DOID:12705 Friedreich ataxia ECO:0000314 direct assay evidence used in manual assertion PMID:24667739 20230814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN is_implicated_in DOID:12705 Friedreich ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10543403 20230814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN is_implicated_in DOID:12705 Friedreich ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8596916 20230814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN is_implicated_in DOID:12705 Friedreich ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22409940 20230814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:8506 bullous pemphigoid ECO:0000314 direct assay evidence used in manual assertion PMID:1973607 20140702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:799 varicose veins ECO:0000314 direct assay evidence used in manual assertion PMID:12175972 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_implicated_in DOID:3312 bipolar disorder ECO:0000314 direct assay evidence used in manual assertion PMID:18534564 20120321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7371 MSLN is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17581599 20100618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7371 MSLN is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17785569 20100618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_implicated_in DOID:8778 Crohn's disease ECO:0000314 direct assay evidence used in manual assertion PMID:21364546 20120524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:19382103 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19127455 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 is_implicated_in DOID:2349 arteriosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:15073384 20061106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7316 MS4A2 is_implicated_in DOID:4483 rhinitis ECO:0000314 direct assay evidence used in manual assertion PMID:15480314 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:2921 glomerulonephritis ECO:0000314 direct assay evidence used in manual assertion PMID:22241891 20121018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:783 end stage renal disease ECO:0000314 direct assay evidence used in manual assertion PMID:20638167 20121114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0000314 direct assay evidence used in manual assertion PMID:24100243 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0000314 direct assay evidence used in manual assertion PMID:16860035 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0000314 direct assay evidence used in manual assertion PMID:11172140 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0000314 direct assay evidence used in manual assertion PMID:17606547 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0000314 direct assay evidence used in manual assertion PMID:15126990 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12948739 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15194053 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17407189 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25597593 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18523448 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16435195 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27146977 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21734815 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7951228 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1301941 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1301196 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:12802 mucopolysaccharidosis I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8664897 20230724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:16570015 20140314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25445749 20220329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:5041 esophageal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:33292587 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3694 FGG is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:22348216 20160714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5031 HNRNPA1 is_implicated_in DOID:321 tropical spastic paraparesis ECO:0000314 direct assay evidence used in manual assertion PMID:11984596 20150626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:9470 bacterial meningitis ECO:0000314 direct assay evidence used in manual assertion PMID:10430840 20140304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 is_not_implicated_in DOID:12930 dilated cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:8567977 20061106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:13141 uveitis ECO:0000314 direct assay evidence used in manual assertion PMID:1544781 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:8398 osteoarthritis ECO:0000314 direct assay evidence used in manual assertion PMID:16128596 20130121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7060 MGP is_implicated_in DOID:2349 arteriosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:8200973 20061111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3959 FRZB is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:27623992 20200629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:2460157 20160412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0000314 direct assay evidence used in manual assertion PMID:9844059 20121112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0000314 direct assay evidence used in manual assertion PMID:9370186 20121112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0000314 direct assay evidence used in manual assertion PMID:10079261 20121112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10916103 20121112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19280228 20121112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:409 liver disease ECO:0000314 direct assay evidence used in manual assertion PMID:21968078 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4566 GRB2 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17372910 20180122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:8805 intermediate coronary syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:14675588 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7036 MFGE8 is_implicated_in DOID:13375 temporal arteritis ECO:0000314 direct assay evidence used in manual assertion PMID:11748647 20061110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:18972094 20090528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14063 HDAC4 is_implicated_in DOID:12704 ataxia telangiectasia ECO:0000314 direct assay evidence used in manual assertion PMID:22466704 20141202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:19085183 20090916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:19741189 20090916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16452204 20200416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:20155451 20200416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21573021 20200416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_implicated_in DOID:11394 adult respiratory distress syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:21317313 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:2355 anemia ECO:0000314 direct assay evidence used in manual assertion PMID:11895216 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6724 LUM is_implicated_in DOID:3407 carotid artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:15970583 20061101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:3393 coronary artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:15619398 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17893005 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:0080222 pseudohypoparathyroidism type IB ECO:0000314 direct assay evidence used in manual assertion PMID:15537666 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:0080222 pseudohypoparathyroidism type IB ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:0080222 pseudohypoparathyroidism type IB ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12621129 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:0080222 pseudohypoparathyroidism type IB ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22378814 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6720 LTF is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23201854 20130502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5195 HS3ST2 is_implicated_in DOID:1324 lung cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12527896 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0000314 direct assay evidence used in manual assertion PMID:16311603 20061104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_implicated_in DOID:8557 oropharynx cancer ECO:0000314 direct assay evidence used in manual assertion PMID:28347920 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6348 KLF4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:22677193 20190522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:29328487 20190115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:13139 crescentic glomerulonephritis ECO:0000314 direct assay evidence used in manual assertion PMID:7637259 20140410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5244 HSPA9 is_implicated_in DOID:14330 Parkinson's disease ECO:0000314 direct assay evidence used in manual assertion PMID:18219256 20120802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5244 HSPA9 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19657588 20120802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5244 HSPA9 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20817635 20120802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_implicated_in DOID:3491 Turner syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:22278433 20170209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_implicated_in DOID:3491 Turner syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:17067837 20170209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:799 varicose veins ECO:0000314 direct assay evidence used in manual assertion PMID:16465063 20061115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31606 MIR23B is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28036298 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:12167381 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 is_implicated_in DOID:11714 gestational diabetes ECO:0000314 direct assay evidence used in manual assertion PMID:18588707 20090916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:2377 multiple sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:24155968 20170308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26285213 20170308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23202972 20170308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:0060691 platelet-type bleeding disorder 16 ECO:0000314 direct assay evidence used in manual assertion PMID:22250950 20160128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:0060691 platelet-type bleeding disorder 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19691478 20160128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6876 MAPK14 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23624232 20220328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6876 MAPK14 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27286263 20220328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6876 MAPK14 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25548290 20220328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:15685173 20150625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:11192540 20100913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31584 MIR206 is_implicated_in DOID:10534 stomach cancer ECO:0000314 direct assay evidence used in manual assertion PMID:23348698 20220321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6972 MDK is_implicated_in DOID:2316 brain ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:12127679 20061110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:8242903 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11141334 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19120272 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12622777 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17989340 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:8927 learning disability ECO:0000314 direct assay evidence used in manual assertion PMID:10751560 20121121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:16698275 20081031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28979 GSE1 is_implicated_in DOID:10534 stomach cancer ECO:0000314 direct assay evidence used in manual assertion PMID:29367342 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28979 GSE1 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29367342 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:8947 diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:22046295 20120921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7371 MSLN is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19843662 20100618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7371 MSLN is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17785569 20100618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7371 MSLN is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18281514 20100618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:11382 corneal neovascularization ECO:0000314 direct assay evidence used in manual assertion PMID:11437330 20140520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6664 LOX is_implicated_in DOID:10763 hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:8562290 20061030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7175 MMP8 is_implicated_in DOID:3407 carotid artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:16339461 20061115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:9938 dacryocystitis ECO:0000314 direct assay evidence used in manual assertion PMID:24068863 20140410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:10923 sickle cell anemia ECO:0000314 direct assay evidence used in manual assertion PMID:900140 20170517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5434 IFNB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:15389896 20231102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:10923 sickle cell anemia ECO:0000314 direct assay evidence used in manual assertion PMID:19951064 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:10923 sickle cell anemia ECO:0000314 direct assay evidence used in manual assertion PMID:20846340 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:6421522 20140630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4498 FFAR1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:19758793 20100121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4498 FFAR1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19401434 20100121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7197 MOG is_implicated_in DOID:2377 multiple sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:17142321 20150105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:6543 acne ECO:0000314 direct assay evidence used in manual assertion PMID:21054577 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31527 MIR140 is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0000314 direct assay evidence used in manual assertion PMID:32678444 20230503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7108 MKKS is_not_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:15483080 20070419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:3082 interstitial lung disease ECO:0000314 direct assay evidence used in manual assertion PMID:21257923 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4616 GSK3A is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:12675919 20151007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT is_implicated_in DOID:2999 granulosa cell tumor ECO:0000314 direct assay evidence used in manual assertion PMID:15574200 20081002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:29352853 20210114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:29379122 20210114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4566 GRB2 is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:26103942 20180122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7371 MSLN is_implicated_in DOID:26 pancreas disease ECO:0000314 direct assay evidence used in manual assertion PMID:19843662 20100618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:9923658 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4236 GFER is_implicated_in DOID:0050855 renal fibrosis ECO:0000314 direct assay evidence used in manual assertion PMID:24844766 20180209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_implicated_in DOID:2349 arteriosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:17070529 20070503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5258 HSP90AB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:14688203 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:9743 diabetic neuropathy ECO:0000314 direct assay evidence used in manual assertion PMID:16644707 20100114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 is_implicated_in DOID:0050860 colorectal adenoma ECO:0000314 direct assay evidence used in manual assertion PMID:23082052 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:8599825 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:12554 hemolytic-uremic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:12373296 20121113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:24691442 20170907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:7941 Barrett's adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16229808 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:7941 Barrett's adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18664505 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:2723 dermatitis ECO:0000314 direct assay evidence used in manual assertion PMID:16507899 20140508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4270 GIP is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:19126188 20090824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4270 GIP is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:19473824 20090824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:0081267 graft-versus-host disease ECO:0000314 direct assay evidence used in manual assertion PMID:11390418 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5358 IRF8 is_implicated_in DOID:13241 Behcet's disease ECO:0000314 direct assay evidence used in manual assertion PMID:28881647 20230630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5358 IRF8 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26794091 20230630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:0050852 limb ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:15238569 20140314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:3082 interstitial lung disease ECO:0000314 direct assay evidence used in manual assertion PMID:15161635 20101214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_implicated_in DOID:0002116 pterygium ECO:0000314 direct assay evidence used in manual assertion PMID:19420332 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:16005252 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:1588 thrombocytopenia ECO:0000314 direct assay evidence used in manual assertion PMID:11091188 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:8398 osteoarthritis ECO:0000314 direct assay evidence used in manual assertion PMID:22393163 20151015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:10763 hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:15363819 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:8472 localized scleroderma ECO:0000314 direct assay evidence used in manual assertion PMID:9804345 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:3514237 20150708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:20179210 20190205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19930156 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6886 MAPK9 is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:22517435 20190205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18172299 20080428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7371 MSLN is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:12874021 20100618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:19170121 20100325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:18852529 20090720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5246 HSPB1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:21833720 20151028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_implicated_in DOID:2349 arteriosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:12526080 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14063 HDAC4 is_implicated_in DOID:8466 retinal degeneration ECO:0000314 direct assay evidence used in manual assertion PMID:19131628 20141202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:23699600 20230928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL is_implicated_in DOID:12858 Huntington's disease ECO:0000314 direct assay evidence used in manual assertion PMID:3159462 20180411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL is_implicated_in DOID:12858 Huntington's disease ECO:0000314 direct assay evidence used in manual assertion PMID:6237280 20180411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5987 IL18BP is_implicated_in DOID:3042 allergic contact dermatitis ECO:0000314 direct assay evidence used in manual assertion PMID:12874202 20140523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_implicated_in DOID:10591 pre-eclampsia ECO:0000314 direct assay evidence used in manual assertion PMID:15472115 20061110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:5199 ureteral obstruction ECO:0000314 direct assay evidence used in manual assertion PMID:21975862 20121022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:11382 corneal neovascularization ECO:0000314 direct assay evidence used in manual assertion PMID:10359324 20140407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_implicated_in DOID:13375 temporal arteritis ECO:0000314 direct assay evidence used in manual assertion PMID:17502363 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:14115 toxic shock syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:12117955 20061130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5423 IFNA2 is_implicated_in DOID:5082 liver cirrhosis ECO:0000314 direct assay evidence used in manual assertion PMID:7646558 20200310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5358 IRF8 is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:23114132 20230629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21812652 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR is_implicated_in DOID:11714 gestational diabetes ECO:0000314 direct assay evidence used in manual assertion PMID:19179458 20090528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6724 LUM is_implicated_in DOID:3393 coronary artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:11890723 20061101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6944 MCM2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:19946466 20151112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32871 MIR615 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:29471894 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:1556 arthus reaction ECO:0000314 direct assay evidence used in manual assertion PMID:10762218 20141103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:12704 ataxia telangiectasia ECO:0000314 direct assay evidence used in manual assertion PMID:6432389 20140710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_implicated_in DOID:11476 osteoporosis ECO:0000314 direct assay evidence used in manual assertion PMID:11459801 20150716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31522 MIR136 is_implicated_in DOID:1324 lung cancer ECO:0000314 direct assay evidence used in manual assertion PMID:34258296 20220912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19536890 20101108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5246 HSPB1 is_implicated_in DOID:1115 sarcoma ECO:0000314 direct assay evidence used in manual assertion PMID:21833720 20151028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:9182 pemphigus ECO:0000314 direct assay evidence used in manual assertion PMID:6432916 20140710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:12217 Lewy body dementia ECO:0000314 direct assay evidence used in manual assertion PMID:19276553 20150622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6006 IL21R is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0000314 direct assay evidence used in manual assertion PMID:22530560 20120816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_implicated_in DOID:12849 autistic disorder ECO:0000314 direct assay evidence used in manual assertion PMID:15138176 20170615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:29615147 20200317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:11830493 20100408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:341 peripheral vascular disease ECO:0000314 direct assay evidence used in manual assertion PMID:19397692 20090520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:10763 hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:16840178 20070829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16780738 20070829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:11476 osteoporosis ECO:0000314 direct assay evidence used in manual assertion PMID:8182127 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:986 alopecia areata ECO:0000314 direct assay evidence used in manual assertion PMID:3261574 20140702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B is_implicated_in DOID:5419 schizophrenia ECO:0000314 direct assay evidence used in manual assertion PMID:14745448 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16397405 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12670449 20100421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_implicated_in DOID:1513 chronic cervicitis ECO:0000314 direct assay evidence used in manual assertion PMID:29362599 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:3097114 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:25656991 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_implicated_in DOID:1596 depressive disorder ECO:0000314 direct assay evidence used in manual assertion PMID:25340772 20210713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_implicated_in DOID:10603 glucose intolerance ECO:0000314 direct assay evidence used in manual assertion PMID:11591125 20170615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25862373 20180123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26452103 20180123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:11714 gestational diabetes ECO:0000314 direct assay evidence used in manual assertion PMID:19408175 20090520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5987 IL18BP is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:19805173 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21674174 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:12361 Graves' disease ECO:0000314 direct assay evidence used in manual assertion PMID:2279527 20140630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:3070 high grade glioma ECO:0000314 direct assay evidence used in manual assertion PMID:12864971 20140702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:11758 iron deficiency anemia ECO:0000314 direct assay evidence used in manual assertion PMID:24691014 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25372416 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26325365 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6720 LTF is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21532506 20130517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5343 ICA1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:8647206 20090720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_implicated_in DOID:12241 beta thalassemia ECO:0000314 direct assay evidence used in manual assertion PMID:16696909 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:19606063 20181029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25884928 20181029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28294061 20181029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17928142 20181029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22493749 20181029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15860464 20181029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:13141 uveitis ECO:0000314 direct assay evidence used in manual assertion PMID:9232451 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:13141 uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23831258 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:3892 insulinoma ECO:0000314 direct assay evidence used in manual assertion PMID:2565624 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:3892 insulinoma ECO:0000314 direct assay evidence used in manual assertion PMID:8175958 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:1712 aortic valve stenosis ECO:0000314 direct assay evidence used in manual assertion PMID:15780799 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:15356074 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:1797022 20131111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:9080118 20140702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31522 MIR136 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:34974791 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:18936159 20090826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:11204 allergic conjunctivitis ECO:0000314 direct assay evidence used in manual assertion PMID:10549671 20140407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:21880954 20120524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_implicated_in DOID:2355 anemia ECO:0000314 direct assay evidence used in manual assertion PMID:25261071 20151217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_implicated_in DOID:2355 anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24934404 20151217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_implicated_in DOID:2355 anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25940869 20151217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6846 MAP2K6 is_implicated_in DOID:11870 Pick's disease ECO:0000314 direct assay evidence used in manual assertion PMID:12392790 20131216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:7604000 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4171 GATA2 is_implicated_in DOID:1596 depressive disorder ECO:0000314 direct assay evidence used in manual assertion PMID:25340772 20160408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:418 systemic scleroderma ECO:0000314 direct assay evidence used in manual assertion PMID:10395706 20170614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12384286 20170614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0000314 direct assay evidence used in manual assertion PMID:16115023 20061106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:1339 Diamond-Blackfan anemia ECO:0000314 direct assay evidence used in manual assertion PMID:25492299 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:1749 squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11023201 20140702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA is_implicated_in DOID:1205 allergic disease ECO:0000314 direct assay evidence used in manual assertion PMID:9104792 20110907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6886 MAPK9 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:25205654 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:17387692 20180918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20864222 20180918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18340469 20180918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15507493 20180918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:4371 Schnitzler syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:1831824 20140108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:11476 osteoporosis ECO:0000314 direct assay evidence used in manual assertion PMID:10555884 20121029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4923 HK2 is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:11319725 20090914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5412 IFITM1 is_implicated_in DOID:5627 adenosquamous gallbladder carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:29043607 20210921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4923 HK2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:11319725 20090914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:14250 Down syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:24519975 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:3021 acute kidney failure ECO:0000314 direct assay evidence used in manual assertion PMID:16259926 20121031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:3021 acute kidney failure ECO:0000314 direct assay evidence used in manual assertion PMID:16763508 20121031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:23639787 20151014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4566 GRB2 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17372910 20180122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4566 GRB2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28930697 20180122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:17317918 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:24698347 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21674174 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_implicated_in DOID:8947 diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:12714657 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5237 HSPA4 is_implicated_in DOID:12140 Chagas disease ECO:0000314 direct assay evidence used in manual assertion PMID:21801456 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4432 GOT1 is_implicated_in DOID:9120 amyloidosis ECO:0000314 direct assay evidence used in manual assertion PMID:28390893 20180129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:16005252 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:13100 intracranial vasospasm ECO:0000314 direct assay evidence used in manual assertion PMID:14657544 20160202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:13100 intracranial vasospasm ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21654696 20160202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21812995 20150904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:1561 cognitive disorder ECO:0000314 direct assay evidence used in manual assertion PMID:17955369 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:2494952 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28492138 20180125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:0050167 autoimmune polyendocrine syndrome type 1 ECO:0000314 direct assay evidence used in manual assertion PMID:22506635 20151005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25405740 20170908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:3310 atopic dermatitis ECO:0000314 direct assay evidence used in manual assertion PMID:7547077 20140710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:3310 atopic dermatitis ECO:0000314 direct assay evidence used in manual assertion PMID:1673687 20140710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16333313 20140710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31579 MIR200B is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:26919246 20190916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31579 MIR200B is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28383782 20190916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31579 MIR200B is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26919246 20190916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31579 MIR200B is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28383782 20190916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 is_implicated_in DOID:2870 endometrial adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23402905 20180803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4318 GLI2 is_implicated_in DOID:0080016 spina bifida ECO:0000314 direct assay evidence used in manual assertion PMID:26446020 20170330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:8915041 20150708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:22930375 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26823947 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26950655 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_implicated_in DOID:687 hepatoblastoma ECO:0000314 direct assay evidence used in manual assertion PMID:31541079 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:31400607 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0000314 direct assay evidence used in manual assertion PMID:7833486 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9808588 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23645090 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19409109 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_implicated_in DOID:4483 rhinitis ECO:0000314 direct assay evidence used in manual assertion PMID:19860581 20110321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_implicated_in DOID:5419 schizophrenia ECO:0000314 direct assay evidence used in manual assertion PMID:21250934 20120321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_implicated_in DOID:5419 schizophrenia ECO:0000314 direct assay evidence used in manual assertion PMID:18534564 20120321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_implicated_in DOID:2154 nephroblastoma ECO:0000314 direct assay evidence used in manual assertion PMID:11436121 20090324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6694 LRP2 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0000314 direct assay evidence used in manual assertion PMID:10404822 20070823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:9351 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:17466965 20090602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6834 MAOB is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:1627256 20150706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0000314 direct assay evidence used in manual assertion PMID:9693304 20140627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:285 hairy cell leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:8843970 20160721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:6421522 20140630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:3070 high grade glioma ECO:0000314 direct assay evidence used in manual assertion PMID:1883913 20070517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:16461815 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:9158104 20121102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0000314 direct assay evidence used in manual assertion PMID:24491821 20201015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4559 GPX7 is_implicated_in DOID:7941 Barrett's adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18664505 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:784 chronic kidney disease ECO:0000314 direct assay evidence used in manual assertion PMID:22613545 20121128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22795294 20121128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:24291052 20200908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF is_implicated_in DOID:1826 epilepsy ECO:0000314 direct assay evidence used in manual assertion PMID:19162016 20120307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:4371 Schnitzler syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:16096327 20160808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3059 HBEGF is_implicated_in DOID:8677 perinatal necrotizing enterocolitis ECO:0000314 direct assay evidence used in manual assertion PMID:18607263 20150826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_implicated_in DOID:3407 carotid artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:16339461 20061115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:11115351 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772397 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_implicated_in DOID:13129 severe pre-eclampsia ECO:0000314 direct assay evidence used in manual assertion PMID:24969494 20230224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7408 MT3 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:19619132 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_implicated_in DOID:5419 schizophrenia ECO:0000314 direct assay evidence used in manual assertion PMID:18534564 20120321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17011703 20120321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_implicated_in DOID:10247 pleurisy ECO:0000314 direct assay evidence used in manual assertion PMID:10823416 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:15009768 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:5844 myocardial infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19797822 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16210545 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21226887 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:22282464 20220830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:2355 anemia ECO:0000314 direct assay evidence used in manual assertion PMID:8939405 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_implicated_in DOID:1324 lung cancer ECO:0000314 direct assay evidence used in manual assertion PMID:27669434 20220830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27821145 20220830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29183007 20220830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5412 IFITM1 is_implicated_in DOID:3500 gallbladder adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:29043607 20210921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL is_implicated_in DOID:1588 thrombocytopenia ECO:0000314 direct assay evidence used in manual assertion PMID:12209520 20210518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL is_implicated_in DOID:1588 thrombocytopenia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32841939 20210518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10077649 20210518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:15467712 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12805482 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:26435478 20180123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:12704 ataxia telangiectasia ECO:0000314 direct assay evidence used in manual assertion PMID:6432389 20140710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0000314 direct assay evidence used in manual assertion PMID:21131591 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15566359 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19549396 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5423 IFNA2 is_implicated_in DOID:10459 common cold ECO:0000314 direct assay evidence used in manual assertion PMID:6381610 20201207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4567 GRB7 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:31809243 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4567 GRB7 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32737994 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0000314 direct assay evidence used in manual assertion PMID:25016003 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_implicated_in DOID:3307 teratoma ECO:0000314 direct assay evidence used in manual assertion PMID:10521301 20090324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:418 systemic scleroderma ECO:0000314 direct assay evidence used in manual assertion PMID:15642145 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:10964 cholesteatoma of middle ear ECO:0000314 direct assay evidence used in manual assertion PMID:8737779 20140627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19572116 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19375425 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19152242 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:9351 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:19442860 20090526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18689695 20090526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4226 GDI1 is_implicated_in DOID:2468 psychotic disorder ECO:0000314 direct assay evidence used in manual assertion PMID:20421581 20170817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:4184 pseudohypoparathyroidism ECO:0000314 direct assay evidence used in manual assertion PMID:18812479 20161207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:4184 pseudohypoparathyroidism ECO:0000314 direct assay evidence used in manual assertion PMID:11600516 20161207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:4184 pseudohypoparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10487696 20161207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5195 HS3ST2 is_implicated_in DOID:219 colon cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12527896 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:784 chronic kidney disease ECO:0000314 direct assay evidence used in manual assertion PMID:15954914 20230928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31924810 20230928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17031403 20121102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 is_implicated_in DOID:5419 schizophrenia ECO:0000314 direct assay evidence used in manual assertion PMID:21250934 20120321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_implicated_in DOID:4552 large cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:20019837 20100406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:3407 carotid artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:15073384 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:11839671 20080218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15705877 20080218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17548701 20080218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6886 MAPK9 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:21911753 20180214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6623 LIPG is_implicated_in DOID:3393 coronary artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:16354105 20061028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:418 systemic scleroderma ECO:0000314 direct assay evidence used in manual assertion PMID:15498049 20140717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0000314 direct assay evidence used in manual assertion PMID:15561045 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_implicated_in DOID:3498 pancreatic ductal adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:24859161 20230224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:3265 chronic granulomatous disease ECO:0000314 direct assay evidence used in manual assertion PMID:22883043 20120823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:21911753 20180214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:0080158 herpes simplex virus keratitis ECO:0000314 direct assay evidence used in manual assertion PMID:15258192 20140407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:10808 gastric ulcer ECO:0000314 direct assay evidence used in manual assertion PMID:9127818 20140520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6365 KLK4 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12370833 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:15502111 20101222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18629290 20101222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_implicated_in DOID:6713 cerebrovascular disease ECO:0000314 direct assay evidence used in manual assertion PMID:26072930 20151217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:26820128 20200204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:11446 sciatic neuropathy ECO:0000314 direct assay evidence used in manual assertion PMID:18941443 20140314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:11934 head and neck cancer ECO:0000314 direct assay evidence used in manual assertion PMID:20846153 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:11934 head and neck cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21133595 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:11934 head and neck cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16721740 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 is_implicated_in DOID:2377 multiple sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:25392335 20210115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20861862 20210115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_implicated_in DOID:9351 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:24865682 20151217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:20137856 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:4926 bronchiolo-alveolar adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:19484794 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3665 FGF1 is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:24200746 20151214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:29235098 20191213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5434 IFNB1 is_implicated_in DOID:0080600 COVID-19 ECO:0000314 direct assay evidence used in manual assertion PMID:32401715 20200616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:3911 progeria ECO:0000314 direct assay evidence used in manual assertion PMID:20805469 20150504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:0081267 graft-versus-host disease ECO:0000314 direct assay evidence used in manual assertion PMID:8049450 20121109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:20957739 20101101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:13375 temporal arteritis ECO:0000314 direct assay evidence used in manual assertion PMID:17502363 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18512818 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:15356074 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:10459 common cold ECO:0000314 direct assay evidence used in manual assertion PMID:20696083 20100830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:15781623 20080401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7197 MOG is_implicated_in DOID:1210 optic neuritis ECO:0000314 direct assay evidence used in manual assertion PMID:22157536 20150119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:3082 interstitial lung disease ECO:0000314 direct assay evidence used in manual assertion PMID:20185904 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5475 IGFBP6 is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:15889232 20081029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6720 LTF is_implicated_in DOID:1508 candidiasis ECO:0000314 direct assay evidence used in manual assertion PMID:17922408 20130521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:10003 sensorineural hearing loss ECO:0000314 direct assay evidence used in manual assertion PMID:15937357 20140129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4270 GIP is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:3546047 20090821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4559 GPX7 is_implicated_in DOID:9206 Barrett's esophagus ECO:0000314 direct assay evidence used in manual assertion PMID:18664505 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6551 LEF1 is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:14520463 20080718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:2741 bilirubin metabolic disorder ECO:0000314 direct assay evidence used in manual assertion PMID:9073133 20140312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6357 KLK1 is_implicated_in DOID:10763 hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:17272402 20070822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6357 KLK1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15905889 20070822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5209 HSD11B2 is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:15793240 20070518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_implicated_in DOID:8398 osteoarthritis ECO:0000314 direct assay evidence used in manual assertion PMID:16128596 20150514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_implicated_in DOID:8398 osteoarthritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11134178 20150514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:10017 multiple endocrine neoplasia type 1 ECO:0000314 direct assay evidence used in manual assertion PMID:18045958 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:10017 multiple endocrine neoplasia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16840830 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:10017 multiple endocrine neoplasia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17623761 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:10017 multiple endocrine neoplasia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17766710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:10017 multiple endocrine neoplasia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16563611 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:10017 multiple endocrine neoplasia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18300794 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:10017 multiple endocrine neoplasia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:10017 multiple endocrine neoplasia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17854391 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:10017 multiple endocrine neoplasia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17953629 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:10017 multiple endocrine neoplasia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11295574 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:10017 multiple endocrine neoplasia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18549467 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:10017 multiple endocrine neoplasia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9215690 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:11476 osteoporosis ECO:0000314 direct assay evidence used in manual assertion PMID:18079194 20150622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:12160938 20081014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:10389944 20140630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:1875 impotence ECO:0000314 direct assay evidence used in manual assertion PMID:15758817 20100114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_implicated_in DOID:8029 sporadic breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12173039 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:7946395 20100917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:25907942 20181019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31589 MIR212 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25965836 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:1596 depressive disorder ECO:0000314 direct assay evidence used in manual assertion PMID:22427156 20121115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:224 transient cerebral ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:20412072 20140415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:2018 hyperinsulinism ECO:0000314 direct assay evidence used in manual assertion PMID:19375766 20090526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31646 MIR9-3 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:22282464 20220830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 is_implicated_in DOID:11446 sciatic neuropathy ECO:0000314 direct assay evidence used in manual assertion PMID:18060043 20181016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19536452 20100427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19786118 20100427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:0060903 thrombosis ECO:0000314 direct assay evidence used in manual assertion PMID:14563646 20140708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12412731 20140708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:1596 depressive disorder ECO:0000314 direct assay evidence used in manual assertion PMID:23707456 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_implicated_in DOID:2870 endometrial adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23402905 20180803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:3492 mixed connective tissue disease ECO:0000314 direct assay evidence used in manual assertion PMID:10395706 20170614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:8566 herpes simplex ECO:0000314 direct assay evidence used in manual assertion PMID:15498041 20140721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:8566 herpes simplex ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19480845 20140721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:2508 Takayasu's arteritis ECO:0000314 direct assay evidence used in manual assertion PMID:2574087 20140710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:2508 Takayasu's arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17002904 20140710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:11934830 20061127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:3407 carotid artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:16339461 20061115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7060 MGP is_implicated_in DOID:182 calcinosis ECO:0000314 direct assay evidence used in manual assertion PMID:15045141 20061111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:0080998 acute necrotizing pancreatitis ECO:0000314 direct assay evidence used in manual assertion PMID:7736749 20121109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:11446 sciatic neuropathy ECO:0000314 direct assay evidence used in manual assertion PMID:12574433 20121126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_implicated_in DOID:10534 stomach cancer ECO:0000314 direct assay evidence used in manual assertion PMID:29129808 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_implicated_in DOID:10534 stomach cancer ECO:0000316 genetic interaction evidence used in manual assertion PMID:31046116 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6833 MAOA is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:1627256 20150706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:1909 melanoma ECO:0000314 direct assay evidence used in manual assertion PMID:8168095 20121109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5329 IAPP is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:19190104 20090918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:10534 stomach cancer ECO:0000314 direct assay evidence used in manual assertion PMID:30924352 20220330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30114685 20220330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20576521 20220330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0000314 direct assay evidence used in manual assertion PMID:14619382 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3657 FES is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:31038805 20220811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:1485 cystic fibrosis ECO:0000314 direct assay evidence used in manual assertion PMID:20954832 20110419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16883063 20110419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_implicated_in DOID:4195 hyperglycemia ECO:0000314 direct assay evidence used in manual assertion PMID:3690840 20070802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32341 MIR484 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28982084 20180801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_implicated_in DOID:1508 candidiasis ECO:0000314 direct assay evidence used in manual assertion PMID:22661085 20201105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:14330 Parkinson's disease ECO:0000314 direct assay evidence used in manual assertion PMID:22436046 20170131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:10247 pleurisy ECO:0000314 direct assay evidence used in manual assertion PMID:8491511 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5045 HNRNPL is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:24125732 20150420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6866 MAP4K4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:31922225 20220202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6866 MAP4K4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21196414 20220202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6866 MAP4K4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27010469 20220202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:0080162 lupus nephritis ECO:0000314 direct assay evidence used in manual assertion PMID:29925830 20190923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 is_implicated_in DOID:3526 cerebral infarction ECO:0000314 direct assay evidence used in manual assertion PMID:23723305 20180920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31619 MIR29B1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23591808 20180103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_implicated_in DOID:10763 hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:16840178 20061115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:8254199 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:17557887 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21719445 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18204446 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17092257 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:0080001 bone disease ECO:0000314 direct assay evidence used in manual assertion PMID:17066631 20100114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21226887 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:1099 alpha thalassemia ECO:0000314 direct assay evidence used in manual assertion PMID:24577940 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:8472 localized scleroderma ECO:0000314 direct assay evidence used in manual assertion PMID:14712301 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:24264604 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28036298 20220825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:10763 hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:19043252 20090526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12846758 20090526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:11716 prediabetes syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:19442860 20090520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4938 HLA-DPA1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:20165882 20190619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR is_implicated_in DOID:0080000 muscular disease ECO:0000314 direct assay evidence used in manual assertion PMID:21360500 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:16429317 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15656877 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5993 IL1R1 is_implicated_in DOID:418 systemic scleroderma ECO:0000314 direct assay evidence used in manual assertion PMID:1375465 20140626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:19447938 20121115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5195 HS3ST2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:27777637 20220708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:131232 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B is_implicated_in DOID:10534 stomach cancer ECO:0000314 direct assay evidence used in manual assertion PMID:20095042 20210928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0000314 direct assay evidence used in manual assertion PMID:22003089 20151016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13861 LZTS1 is_implicated_in DOID:3459 breast carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18686028 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6132 ISL1 is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:29482621 20230404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6664 LOX is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:8638917 20061030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6664 LOX is_implicated_in DOID:1838 Menkes disease ECO:0000314 direct assay evidence used in manual assertion PMID:8638917 20061030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:12241 beta thalassemia ECO:0000314 direct assay evidence used in manual assertion PMID:2045623 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 is_implicated_in DOID:0080784 urinary tract infection ECO:0000314 direct assay evidence used in manual assertion PMID:24937428 20210409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:8466 retinal degeneration ECO:0000314 direct assay evidence used in manual assertion PMID:15505072 20140312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5195 HS3ST2 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12527896 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:12675919 20151007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:8778 Crohn's disease ECO:0000314 direct assay evidence used in manual assertion PMID:11113068 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31541 MIR154 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:30780105 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:850 lung disease ECO:0000314 direct assay evidence used in manual assertion PMID:19483113 20110418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21327300 20200207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:12987 agranulocytosis ECO:0000314 direct assay evidence used in manual assertion PMID:1331350 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6838 MAP1LC3A is_implicated_in DOID:3068 glioblastoma ECO:0000314 direct assay evidence used in manual assertion PMID:24905460 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16882 HCN4 is_implicated_in DOID:11119 Gilles de la Tourette syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:22683190 20150211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:552 pneumonia ECO:0000314 direct assay evidence used in manual assertion PMID:16369129 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:552 pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18838927 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6266 KCNJ5 is_implicated_in DOID:0060224 atrial fibrillation ECO:0000314 direct assay evidence used in manual assertion PMID:11693772 20061019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:10459 common cold ECO:0000314 direct assay evidence used in manual assertion PMID:18279051 20100917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_implicated_in DOID:4483 rhinitis ECO:0000314 direct assay evidence used in manual assertion PMID:19927541 20101129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16537562 20100427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17265526 20100427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:418 systemic scleroderma ECO:0000314 direct assay evidence used in manual assertion PMID:1418004 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6846 MAP2K6 is_implicated_in DOID:678 progressive supranuclear palsy ECO:0000314 direct assay evidence used in manual assertion PMID:12392790 20131216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_implicated_in DOID:2755 Mycobacterium avium complex disease ECO:0000314 direct assay evidence used in manual assertion PMID:20797909 20101122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5041 HNRNPH1 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:19264855 20150804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:1588 thrombocytopenia ECO:0000314 direct assay evidence used in manual assertion PMID:1331350 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:1657 ventricular septal defect ECO:0000314 direct assay evidence used in manual assertion PMID:21238444 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17922030 20211228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33106877 20211228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4191 GCG is_implicated_in DOID:11716 prediabetes syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:19654434 20090914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_implicated_in DOID:5419 schizophrenia ECO:0000314 direct assay evidence used in manual assertion PMID:17224684 20070907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16549338 20070907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_implicated_in DOID:3594 choriocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17556377 20080313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR is_implicated_in DOID:3594 choriocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17556377 20080313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3657 FES is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:24936140 20220811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_implicated_in DOID:3393 coronary artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:11222468 20070504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:178 vascular disease ECO:0000314 direct assay evidence used in manual assertion PMID:22081301 20121022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_implicated_in DOID:14018 alcoholic liver cirrhosis ECO:0000314 direct assay evidence used in manual assertion PMID:29912265 20200228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:11573 listeriosis ECO:0000314 direct assay evidence used in manual assertion PMID:8855299 20160808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:11396 pulmonary edema ECO:0000314 direct assay evidence used in manual assertion PMID:15635619 20101112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:12858 Huntington's disease ECO:0000314 direct assay evidence used in manual assertion PMID:15371744 20170530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_implicated_in DOID:234 colon adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:33174323 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17278096 20100326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_implicated_in DOID:0050741 alcohol dependence ECO:0000314 direct assay evidence used in manual assertion PMID:29912265 20200228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6169 ITIH4 is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:10486281 20061106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:10608 celiac disease ECO:0000314 direct assay evidence used in manual assertion PMID:23556408 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:10763 hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:19056836 20140924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:3021 acute kidney failure ECO:0000314 direct assay evidence used in manual assertion PMID:22235348 20160325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:3021 acute kidney failure ECO:0000314 direct assay evidence used in manual assertion PMID:22209169 20160325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1854 CENPC is_implicated_in DOID:0060218 CREST syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:25220385 20200529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:23151030 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:22249931 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 is_implicated_in DOID:2316 brain ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:1830327 20131126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_implicated_in DOID:8869 neuromyelitis optica ECO:0000314 direct assay evidence used in manual assertion PMID:18420727 20140811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_implicated_in DOID:8869 neuromyelitis optica ECO:0000314 direct assay evidence used in manual assertion PMID:16087714 20140811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_implicated_in DOID:8869 neuromyelitis optica ECO:0000314 direct assay evidence used in manual assertion PMID:23890015 20140811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_implicated_in DOID:8869 neuromyelitis optica ECO:0000314 direct assay evidence used in manual assertion PMID:20047900 20140811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_implicated_in DOID:8869 neuromyelitis optica ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23116879 20140811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23 ABAT is_implicated_in DOID:12858 Huntington's disease ECO:0000314 direct assay evidence used in manual assertion PMID:6237280 20150710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:0080162 lupus nephritis ECO:0000314 direct assay evidence used in manual assertion PMID:15146424 20121231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:195 ADAM17 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:19633828 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:195 ADAM17 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:19581416 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2015 CLCA1 is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:17898169 20101111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2015 CLCA1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15318163 20101111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:922 B3GAT2 is_implicated_in DOID:9206 Barrett's esophagus ECO:0000314 direct assay evidence used in manual assertion PMID:26545406 20190219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:3525 middle cerebral artery infarction ECO:0000314 direct assay evidence used in manual assertion PMID:15545914 20140924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:122 ACP1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:12495297 20090911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_implicated_in DOID:12554 hemolytic-uremic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:16197457 20120905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3570 ACSL3 is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:19221603 20181220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:20807656 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21239755 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_implicated_in DOID:0080743 transverse myelitis ECO:0000314 direct assay evidence used in manual assertion PMID:23999580 20140811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_implicated_in DOID:0080743 transverse myelitis ECO:0000314 direct assay evidence used in manual assertion PMID:21771203 20140811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:22348216 20160310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23 ABAT is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:1627256 20150706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:1380 endometrial cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12810635 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17442187 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17296437 20080219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 is_implicated_in DOID:12120 pulmonary alveolar proteinosis ECO:0000314 direct assay evidence used in manual assertion PMID:9763547 20160111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 is_implicated_in DOID:12120 pulmonary alveolar proteinosis ECO:0000314 direct assay evidence used in manual assertion PMID:11179134 20160111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 is_implicated_in DOID:12120 pulmonary alveolar proteinosis ECO:0000314 direct assay evidence used in manual assertion PMID:21478218 20160111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:1289 neurodegenerative disease ECO:0000314 direct assay evidence used in manual assertion PMID:16339796 20150922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:10923 sickle cell anemia ECO:0000314 direct assay evidence used in manual assertion PMID:24035168 20160729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1050 BID is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:15943879 20100409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15819 ANKRD1 is_implicated_in DOID:12377 spinal muscular atrophy ECO:0000314 direct assay evidence used in manual assertion PMID:14516314 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:13378 Kawasaki disease ECO:0000314 direct assay evidence used in manual assertion PMID:12563087 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24190 CAMK2N1 is_implicated_in DOID:4001 ovarian carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:26910918 20200121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:1891 optic nerve disease ECO:0000314 direct assay evidence used in manual assertion PMID:18442442 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17210712 20100831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:16622028 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18048809 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19373626 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5951 CADM1 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12079507 20080121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:12205 dengue disease ECO:0000314 direct assay evidence used in manual assertion PMID:22138554 20201123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17998819 20080129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:3525 middle cerebral artery infarction ECO:0000314 direct assay evidence used in manual assertion PMID:20833153 20150923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:3525 middle cerebral artery infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20547143 20150923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3587 FANCF is_implicated_in DOID:2999 granulosa cell tumor ECO:0000314 direct assay evidence used in manual assertion PMID:15574200 20080703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1727 CDC25C is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17460776 20100706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1727 CDC25C is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16000564 20100706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1727 CDC25C is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12896904 20100706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1727 CDC25C is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16140946 20100706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4268 CBLIF is_implicated_in DOID:13381 pernicious anemia ECO:0000314 direct assay evidence used in manual assertion PMID:167441 20160411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4268 CBLIF is_implicated_in DOID:13381 pernicious anemia ECO:0000314 direct assay evidence used in manual assertion PMID:4434116 20160411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3585 FANCD2 is_implicated_in DOID:13636 Fanconi anemia ECO:0000314 direct assay evidence used in manual assertion PMID:19287902 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3585 FANCD2 is_implicated_in DOID:13636 Fanconi anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11239453 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:1210 optic neuritis ECO:0000314 direct assay evidence used in manual assertion PMID:18055782 20140821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_implicated_in DOID:4492 avian influenza ECO:0000314 direct assay evidence used in manual assertion PMID:24800825 20200626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2622 CYP2C8 is_implicated_in DOID:1073 renal hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:20495177 20130508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_implicated_in DOID:8398 osteoarthritis ECO:0000314 direct assay evidence used in manual assertion PMID:24938620 20211008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_implicated_in DOID:1432 blindness ECO:0000314 direct assay evidence used in manual assertion PMID:17702782 20140811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3584 FANCC is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16243825 20100322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3584 FANCC is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15695377 20100322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:12643515 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:17611569 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:20658957 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:23683424 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1232 EGLN1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:20978146 20180117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:12469194 20160725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:125 ACP3 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17991541 20080924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16483154 20080206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:1184 nephrotic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:23128049 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:3459 breast carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:15355923 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2422 CS is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:8252591 20230404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2422 CS is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:10354207 20230404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:23523869 20171115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:277 ADRA1A is_implicated_in DOID:10763 hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:19011682 20120228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:26927662 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:3312 bipolar disorder ECO:0000314 direct assay evidence used in manual assertion PMID:16984965 20231229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:1227 neutropenia ECO:0000314 direct assay evidence used in manual assertion PMID:10654961 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1777 CDK6 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:24389175 20180827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:2988 antiphospholipid syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:17014014 20121102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:2988 antiphospholipid syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:16188945 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15819 ANKRD1 is_implicated_in DOID:3191 nemaline myopathy ECO:0000314 direct assay evidence used in manual assertion PMID:14516314 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17017434 20080124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:20176799 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16771730 20080219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7106 ATXN3 is_implicated_in DOID:1440 Machado-Joseph disease ECO:0000314 direct assay evidence used in manual assertion PMID:18385100 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7106 ATXN3 is_implicated_in DOID:1440 Machado-Joseph disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20308049 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7106 ATXN3 is_implicated_in DOID:1440 Machado-Joseph disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18841197 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7106 ATXN3 is_implicated_in DOID:1440 Machado-Joseph disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18385100 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7106 ATXN3 is_implicated_in DOID:1440 Machado-Joseph disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7874163 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7106 ATXN3 is_implicated_in DOID:1440 Machado-Joseph disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:786 ATF4 is_implicated_in DOID:10286 prostate carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25680860 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:4780 anti-basement membrane glomerulonephritis ECO:0000314 direct assay evidence used in manual assertion PMID:8206086 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:4780 anti-basement membrane glomerulonephritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10712436 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3364 ENTPD2 is_implicated_in DOID:3070 high grade glioma ECO:0000314 direct assay evidence used in manual assertion PMID:19558578 20150114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16425351 20080130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:769 neuroblastoma ECO:0000314 direct assay evidence used in manual assertion PMID:24714808 20150528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 is_implicated_in DOID:10286 prostate carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11309332 20220913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14661 EGLN3 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:20676679 20180208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:0080158 herpes simplex virus keratitis ECO:0000314 direct assay evidence used in manual assertion PMID:18515564 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:1380 endometrial cancer ECO:0000314 direct assay evidence used in manual assertion PMID:22907428 20180706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29876005 20180706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:5015 fibrolamellar carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:19101982 20190528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18269736 20210610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17384678 20210610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9167459 20210610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7907678 20210610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27211102 20210610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:22415896 20230404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17016690 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:10283 prostate cancer ECO:0000316 genetic interaction evidence used in manual assertion PMID:16322291 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:19622782 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24655058 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:0050848 obstructive sleep apnea ECO:0000314 direct assay evidence used in manual assertion PMID:16061712 20110105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_implicated_in DOID:2377 multiple sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:21177319 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:0060074 ductal carcinoma in situ ECO:0000314 direct assay evidence used in manual assertion PMID:14601057 20080124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:15639484 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:0050852 limb ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:16224058 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:0050852 limb ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:23294128 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2674 DAPK1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12124340 20150114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:224 transient cerebral ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:12624302 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17049844 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12394768 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0000314 direct assay evidence used in manual assertion PMID:20581660 20160803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:3891 placental insufficiency ECO:0000314 direct assay evidence used in manual assertion PMID:20809703 20150922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1542 CBLB is_implicated_in DOID:5517 stomach carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28334634 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:10584 retinitis pigmentosa ECO:0000314 direct assay evidence used in manual assertion PMID:19293779 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:995 BCL2L2 is_implicated_in DOID:224 transient cerebral ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:12571640 20190322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_implicated_in DOID:3429 inclusion body myositis ECO:0000314 direct assay evidence used in manual assertion PMID:15912881 20070731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:2913 acute pancreatitis ECO:0000314 direct assay evidence used in manual assertion PMID:17506000 20160408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:7510492 20160315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1590 CCNE2 is_implicated_in DOID:0080909 castration-resistant prostate carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:27431942 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:20728382 20160725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:3008 invasive ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:19879256 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:704 ARPC1B is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:22608605 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0000314 direct assay evidence used in manual assertion PMID:10435724 20160721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:3186722 20160721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:11934 head and neck cancer ECO:0000314 direct assay evidence used in manual assertion PMID:20846153 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:11934 head and neck cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16721740 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_implicated_in DOID:3500 gallbladder adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:29043607 20210921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:33320844 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:31059558 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22004425 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:2920 membranoproliferative glomerulonephritis ECO:0000314 direct assay evidence used in manual assertion PMID:2329415 20130419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9437 EIF2AK2 is_implicated_in DOID:12858 Huntington's disease ECO:0000314 direct assay evidence used in manual assertion PMID:15567511 20150902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9437 EIF2AK2 is_implicated_in DOID:12858 Huntington's disease ECO:0000314 direct assay evidence used in manual assertion PMID:11468270 20150902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:22402625 20191031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:12679798 20191031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 is_implicated_in DOID:1324 lung cancer ECO:0000314 direct assay evidence used in manual assertion PMID:24037716 20221116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_implicated_in DOID:0050625 biliary tract benign neoplasm ECO:0000314 direct assay evidence used in manual assertion PMID:20358256 20100604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:9023386 20160729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:783 end stage renal disease ECO:0000314 direct assay evidence used in manual assertion PMID:12941150 20130815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1667 CD38 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:12488956 20090522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1667 CD38 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:16459468 20090522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3588 FANCG is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16243825 20100322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2158 CNP is_implicated_in DOID:2377 multiple sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:18676363 20120518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_implicated_in DOID:13208 background diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:10848441 20150701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0000314 direct assay evidence used in manual assertion PMID:19461158 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0000314 direct assay evidence used in manual assertion PMID:19147915 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0000314 direct assay evidence used in manual assertion PMID:19585583 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0000314 direct assay evidence used in manual assertion PMID:19701945 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0000314 direct assay evidence used in manual assertion PMID:19458121 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0000314 direct assay evidence used in manual assertion PMID:19293543 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0000314 direct assay evidence used in manual assertion PMID:12191971 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18653713 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16845277 20091111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:993 BCL2L10 is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:27455953 20190304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0000314 direct assay evidence used in manual assertion PMID:22448211 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0000314 direct assay evidence used in manual assertion PMID:1936214 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:842 ATP5MC2 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21132003 20190729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1508 CASP7 is_implicated_in DOID:219 colon cancer ECO:0000314 direct assay evidence used in manual assertion PMID:23979166 20170830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:1655856 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:20004781 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19800676 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18569231 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18785519 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19638684 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20443840 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19029431 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:12365 malaria ECO:0000314 direct assay evidence used in manual assertion PMID:19331170 20201006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28422980 20201006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28934955 20201006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17015054 20201006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16432 AZIN1 is_implicated_in DOID:5082 liver cirrhosis ECO:0000314 direct assay evidence used in manual assertion PMID:23291631 20190812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16432 AZIN1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21586232 20190812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:2316 brain ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:18832793 20110628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17922863 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18006911 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21436454 20160805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23983255 20160805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:0060318 acute promyelocytic leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:12750706 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:27168825 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15863205 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11064355 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25616284 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17101318 20220819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:26918234 20220819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:12259 hemophilia B ECO:0000314 direct assay evidence used in manual assertion PMID:26635073 20161117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23892757 20160215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11701 CRIPTO is_implicated_in DOID:219 colon cancer ECO:0000314 direct assay evidence used in manual assertion PMID:15173016 20161110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_implicated_in DOID:2152 ovary epithelial cancer ECO:0000314 direct assay evidence used in manual assertion PMID:23539629 20141021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:15232742 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17201148 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:14718403 20070601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:10547193 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:10534 stomach cancer ECO:0000314 direct assay evidence used in manual assertion PMID:21831520 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:370 AKAP12 is_implicated_in DOID:0050458 juvenile myelomonocytic leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:26891149 20190205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:405 ALDH3A1 is_implicated_in DOID:2349 arteriosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:3949078 20080911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3551 F9 is_implicated_in DOID:12259 hemophilia B ECO:0000314 direct assay evidence used in manual assertion PMID:20351275 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3551 F9 is_implicated_in DOID:12259 hemophilia B ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21122306 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3551 F9 is_implicated_in DOID:12259 hemophilia B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2041805 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3551 F9 is_implicated_in DOID:12259 hemophilia B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2752145 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3551 F9 is_implicated_in DOID:12259 hemophilia B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3551 F9 is_implicated_in DOID:12259 hemophilia B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2714791 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1052 BIN1 is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:12532338 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:10673519 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:0080855 Parkinsonism ECO:0000314 direct assay evidence used in manual assertion PMID:16018990 20140529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21429053 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1383 CA9 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:12883698 20080521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1383 CA9 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11506497 20080521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28797284 20190111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28927142 20180103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:954 BARHL2 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:27542258 20190225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1725 CDC25A is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17145867 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 is_implicated_in DOID:824 periodontitis ECO:0000314 direct assay evidence used in manual assertion PMID:21958237 20120913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:14499 Fabry disease ECO:0000314 direct assay evidence used in manual assertion PMID:20941593 20170418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:327 AGPS is_implicated_in DOID:2580 rhizomelic chondrodysplasia punctata ECO:0000314 direct assay evidence used in manual assertion PMID:9553082 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1515 CAST is_implicated_in DOID:12894 Sjogren's syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:15540513 20111129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28498400 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12358350 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:32724427 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11412385 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18094410 20080516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_implicated_in DOID:10534 stomach cancer ECO:0000314 direct assay evidence used in manual assertion PMID:26432329 20211026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_implicated_in DOID:2741 bilirubin metabolic disorder ECO:0000314 direct assay evidence used in manual assertion PMID:15846474 20160524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_implicated_in DOID:2741 bilirubin metabolic disorder ECO:0000314 direct assay evidence used in manual assertion PMID:16899240 20160524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 is_implicated_in DOID:13949 interstitial cystitis ECO:0000314 direct assay evidence used in manual assertion PMID:22441309 20130826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:8893 psoriasis ECO:0000314 direct assay evidence used in manual assertion PMID:24001377 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:22447331 20120529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1964 CHRNB4 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:22945651 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14129 EHMT2 is_implicated_in DOID:0050156 idiopathic pulmonary fibrosis ECO:0000314 direct assay evidence used in manual assertion PMID:24652950 20141110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:4248 coronary stenosis ECO:0000314 direct assay evidence used in manual assertion PMID:10854676 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:3525 middle cerebral artery infarction ECO:0000314 direct assay evidence used in manual assertion PMID:19298757 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0000314 direct assay evidence used in manual assertion PMID:20211002 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11527135 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20525719 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18667995 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18789663 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19747908 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15819 ANKRD1 is_implicated_in DOID:422 congenital structural myopathy ECO:0000314 direct assay evidence used in manual assertion PMID:14516314 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:21404106 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16458430 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18544627 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_implicated_in DOID:2355 anemia ECO:0000314 direct assay evidence used in manual assertion PMID:23080113 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:0080162 lupus nephritis ECO:0000314 direct assay evidence used in manual assertion PMID:18852001 20121109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:0080162 lupus nephritis ECO:0000314 direct assay evidence used in manual assertion PMID:15692982 20121109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2191 COL14A1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25050929 20220330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_implicated_in DOID:1040 chronic lymphocytic leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:23154584 20160801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:4947 cholangiocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:15467712 20100319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10212000 20100319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1515 CAST is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:7706496 20111129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_implicated_in DOID:3007 breast ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16425351 20080130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:15161783 20160729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:10923 sickle cell anemia ECO:0000314 direct assay evidence used in manual assertion PMID:12793071 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:3021 acute kidney failure ECO:0000314 direct assay evidence used in manual assertion PMID:22694718 20121018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2422 CS is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:10354207 20230404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 is_implicated_in DOID:3068 glioblastoma ECO:0000314 direct assay evidence used in manual assertion PMID:34007068 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:21396376 20110628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24650 EHMT1 is_implicated_in DOID:0080597 Kleefstra syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:21538692 20141110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24650 EHMT1 is_implicated_in DOID:0080597 Kleefstra syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21910222 20141110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:1686 glaucoma ECO:0000314 direct assay evidence used in manual assertion PMID:17554621 20160325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:17186992 20160307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:12524378 20160307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:22403003 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_implicated_in DOID:11123 Henoch-Schoenlein purpura ECO:0000314 direct assay evidence used in manual assertion PMID:27030970 20160802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:30210622 20220715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30368883 20220715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33310033 20220715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2623 CYP2C9 is_implicated_in DOID:10763 hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:19669737 20121008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2623 CYP2C9 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17305793 20121008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:18699801 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19895365 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15316504 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12114354 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17469155 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_implicated_in DOID:0060901 lymphoplasmacytic lymphoma ECO:0000314 direct assay evidence used in manual assertion PMID:24711662 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:30308939 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_implicated_in DOID:3454 brain infarction ECO:0000314 direct assay evidence used in manual assertion PMID:21695352 20131014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:24736069 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:23813967 20150921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:22004348 20150921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13575 BRD4 is_implicated_in DOID:219 colon cancer ECO:0000314 direct assay evidence used in manual assertion PMID:22120039 20140929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:943 ADGRB1 is_implicated_in DOID:3068 glioblastoma ECO:0000314 direct assay evidence used in manual assertion PMID:16244591 20190107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:395 ALAD is_implicated_in DOID:10923 sickle cell anemia ECO:0000314 direct assay evidence used in manual assertion PMID:900140 20170517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13221 BCL11A is_implicated_in DOID:10923 sickle cell anemia ECO:0000314 direct assay evidence used in manual assertion PMID:22360576 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13221 BCL11A is_implicated_in DOID:10923 sickle cell anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18667698 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33983 CFC1B is_implicated_in DOID:6419 tetralogy of Fallot ECO:0000314 direct assay evidence used in manual assertion PMID:24479926 20220920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:418 systemic scleroderma ECO:0000314 direct assay evidence used in manual assertion PMID:22563211 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:20134099 20120831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16911630 20120831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15221799 20120831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_implicated_in DOID:219 colon cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17805550 20170830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_implicated_in DOID:5627 adenosquamous gallbladder carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:29043607 20210921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:11137328 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1852 CENPB is_implicated_in DOID:12236 primary biliary cholangitis ECO:0000314 direct assay evidence used in manual assertion PMID:8911074 20200522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:820 ATP4B is_implicated_in DOID:0040090 autoimmune gastritis ECO:0000314 direct assay evidence used in manual assertion PMID:7517707 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:8991 cervix uteri carcinoma in situ ECO:0000314 direct assay evidence used in manual assertion PMID:10442317 20080804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3538 F2RL1 is_implicated_in DOID:0060496 respiratory allergy ECO:0000314 direct assay evidence used in manual assertion PMID:20186875 20110224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD is_implicated_in DOID:11723 Duchenne muscular dystrophy ECO:0000314 direct assay evidence used in manual assertion PMID:24010700 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD is_implicated_in DOID:11723 Duchenne muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD is_implicated_in DOID:11723 Duchenne muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3055295 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 is_implicated_in DOID:9146 visceral leishmaniasis ECO:0000314 direct assay evidence used in manual assertion PMID:8035028 20160111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:0060022 CD40 ligand deficiency ECO:0000314 direct assay evidence used in manual assertion PMID:21841160 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:0060022 CD40 ligand deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16508335 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:0060022 CD40 ligand deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15358621 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:0060022 CD40 ligand deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:0060022 CD40 ligand deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17553565 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:13268 porphyria ECO:0000314 direct assay evidence used in manual assertion PMID:17435269 20091021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_implicated_in DOID:0060180 colitis ECO:0000314 direct assay evidence used in manual assertion PMID:15254593 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:453 AMBP is_implicated_in DOID:11394 adult respiratory distress syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:15710155 20121010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1753 CDH13 is_implicated_in DOID:3459 breast carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11389090 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:31132711 20220816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:16442234 20090506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11793025 20090506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 is_implicated_in DOID:8778 Crohn's disease ECO:0000314 direct assay evidence used in manual assertion PMID:21748286 20160706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1852 CENPB is_implicated_in DOID:2952 inner ear disease ECO:0000314 direct assay evidence used in manual assertion PMID:18520322 20200522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1725 CDC25A is_implicated_in DOID:4362 cervical cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18299147 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17541034 20171208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22722256 20171208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 is_implicated_in DOID:0050852 limb ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:35301145 20221114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:3144 cutis laxa ECO:0000314 direct assay evidence used in manual assertion PMID:2745999 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:3144 cutis laxa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23442826 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:3144 cutis laxa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9873040 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:3144 cutis laxa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15955094 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:3144 cutis laxa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15381555 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:757 ASPH is_implicated_in DOID:4947 cholangiocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21898484 20120925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 is_implicated_in DOID:1227 neutropenia ECO:0000314 direct assay evidence used in manual assertion PMID:10516626 20110407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:971 BCAR1 is_implicated_in DOID:3007 breast ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11605729 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:28203651 20190528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_implicated_in DOID:1184 nephrotic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:22203175 20160217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12565780 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1515 CAST is_implicated_in DOID:8893 psoriasis ECO:0000314 direct assay evidence used in manual assertion PMID:15654835 20111104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_implicated_in DOID:8466 retinal degeneration ECO:0000314 direct assay evidence used in manual assertion PMID:10704489 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B is_implicated_in DOID:893 Wilson disease ECO:0000314 direct assay evidence used in manual assertion PMID:15511628 20200429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B is_implicated_in DOID:893 Wilson disease ECO:0000314 direct assay evidence used in manual assertion PMID:16803697 20200429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B is_implicated_in DOID:893 Wilson disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B is_implicated_in DOID:893 Wilson disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32043565 20200429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:20131231 20130319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3265 EIF2S1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:16691116 20150901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:8991 cervix uteri carcinoma in situ ECO:0000314 direct assay evidence used in manual assertion PMID:16778587 20080626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:4676 uremia ECO:0000314 direct assay evidence used in manual assertion PMID:7437264 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:13375 temporal arteritis ECO:0000314 direct assay evidence used in manual assertion PMID:9101501 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24948 DOT1L is_implicated_in DOID:9953 acute biphenotypic leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:23801631 20141024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:3571 liver cancer ECO:0000314 direct assay evidence used in manual assertion PMID:30308939 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:28476831 20210917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1515 CAST is_implicated_in DOID:9182 pemphigus ECO:0000314 direct assay evidence used in manual assertion PMID:16314468 20111104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:3457 invasive lobular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:14601057 20080124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:21928377 20160721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:15375584 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21965771 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16771730 20080219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 is_implicated_in DOID:8515 Cor pulmonale ECO:0000314 direct assay evidence used in manual assertion PMID:20669672 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:11170154 20080122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15948133 20080122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:0081267 graft-versus-host disease ECO:0000314 direct assay evidence used in manual assertion PMID:3289150 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:9258277 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:14513073 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:11450 allergic cutaneous vasculitis ECO:0000314 direct assay evidence used in manual assertion PMID:20100783 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21812995 20150904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:783 end stage renal disease ECO:0000314 direct assay evidence used in manual assertion PMID:9730702 20121129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:30308939 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0000314 direct assay evidence used in manual assertion PMID:16188945 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18341638 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:3627 aortic aneurysm ECO:0000314 direct assay evidence used in manual assertion PMID:16085695 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:8505 dermatitis herpetiformis ECO:0000314 direct assay evidence used in manual assertion PMID:8256113 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:11595724 20171117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_implicated_in DOID:13922 eosinophilic esophagitis ECO:0000314 direct assay evidence used in manual assertion PMID:18844613 20160526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:3008 invasive ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17383681 20080206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:386 AKR1C3 is_implicated_in DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0000314 direct assay evidence used in manual assertion PMID:26116659 20161010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:464 AMH is_implicated_in DOID:4001 ovarian carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16533786 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20893 BCOR is_implicated_in DOID:13207 proliferative diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:26248552 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 is_implicated_in DOID:10763 hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:20398560 20130308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21014 ANTXR1 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:19528090 20141210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_implicated_in DOID:0080600 COVID-19 ECO:0000314 direct assay evidence used in manual assertion PMID:34668780 20220121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_implicated_in DOID:0080600 COVID-19 ECO:0000314 direct assay evidence used in manual assertion PMID:34668775 20220121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_implicated_in DOID:0080600 COVID-19 ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32380511 20220121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32220422 20220121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:451 AMACR is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18648853 20100106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2770 DES is_implicated_in DOID:397 restrictive cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:11298680 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:12010 anterior ischemic optic neuropathy ECO:0000314 direct assay evidence used in manual assertion PMID:24316388 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_implicated_in DOID:1273 respiratory syncytial virus infectious disease ECO:0000314 direct assay evidence used in manual assertion PMID:26813885 20200626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1951 CHRM2 is_implicated_in DOID:12140 Chagas disease ECO:0000314 direct assay evidence used in manual assertion PMID:9148906 20111028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:8029 sporadic breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17932744 20080225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 is_implicated_in DOID:418 systemic scleroderma ECO:0000314 direct assay evidence used in manual assertion PMID:21124692 20130321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_implicated_in DOID:1210 optic neuritis ECO:0000314 direct assay evidence used in manual assertion PMID:22157536 20150119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_implicated_in DOID:1210 optic neuritis ECO:0000314 direct assay evidence used in manual assertion PMID:23024849 20150119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:820 ATP4B is_implicated_in DOID:10534 stomach cancer ECO:0000314 direct assay evidence used in manual assertion PMID:23317218 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29849 CADM2 is_implicated_in DOID:3069 malignant astrocytoma ECO:0000314 direct assay evidence used in manual assertion PMID:30816549 20200131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0000314 direct assay evidence used in manual assertion PMID:15907823 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0000314 direct assay evidence used in manual assertion PMID:15375013 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16752392 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9245986 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7894484 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16542389 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15024723 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_implicated_in DOID:8947 diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:18978347 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_implicated_in DOID:10941 intracranial aneurysm ECO:0000314 direct assay evidence used in manual assertion PMID:25316629 20160804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 is_implicated_in DOID:10459 common cold ECO:0000314 direct assay evidence used in manual assertion PMID:20696083 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:616 APOH is_implicated_in DOID:2988 antiphospholipid syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:24642748 20150728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:20854280 20140818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:29945346 20210917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1753 CDH13 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11389090 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1613 CCS is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:26826269 20180419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:3021 acute kidney failure ECO:0000314 direct assay evidence used in manual assertion PMID:21811803 20130520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17299390 20210921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_implicated_in DOID:3457 invasive lobular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11245336 20080130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1066 BMI1 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:14732230 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:820 ATP4B is_implicated_in DOID:8929 atrophic gastritis ECO:0000314 direct assay evidence used in manual assertion PMID:30539573 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 is_implicated_in DOID:438 autoimmune disease of the nervous system ECO:0000314 direct assay evidence used in manual assertion PMID:15486486 20150720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1579 CCNB1 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18006855 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3538 F2RL1 is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:19864598 20110224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 is_implicated_in DOID:3068 glioblastoma ECO:0000314 direct assay evidence used in manual assertion PMID:27422127 20180710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:2841 asthma ECO:0000314 direct assay evidence used in manual assertion PMID:11737043 20140527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17584309 20140527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21723144 20140527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19895626 20140527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:1588 thrombocytopenia ECO:0000314 direct assay evidence used in manual assertion PMID:19175492 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:317 AFP is_implicated_in DOID:1883 hepatitis C ECO:0000314 direct assay evidence used in manual assertion PMID:25914481 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:10230 aortic atherosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:32533834 20230717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:22559233 20150922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:21425139 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17611497 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9437 EIF2AK2 is_implicated_in DOID:14330 Parkinson's disease ECO:0000314 direct assay evidence used in manual assertion PMID:15567511 20150902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0000314 direct assay evidence used in manual assertion PMID:27121430 20171115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19946713 20171115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:24092988 20171004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3387 EPHA3 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:14670182 20100419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_implicated_in DOID:9351 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:32724427 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:850 lung disease ECO:0000314 direct assay evidence used in manual assertion PMID:21155037 20110628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18318 ASXL1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:23099237 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18318 ASXL1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24216483 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18318 ASXL1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18318 ASXL1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21576631 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18318 ASXL1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24045501 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:108 ACHE is_implicated_in DOID:1826 epilepsy ECO:0000314 direct assay evidence used in manual assertion PMID:7634486 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11445839 20180709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 is_implicated_in DOID:552 pneumonia ECO:0000314 direct assay evidence used in manual assertion PMID:3631740 20110406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1964 CHRNB4 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25172267 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2634 CYP2J2 is_implicated_in DOID:1073 renal hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:20495177 20130508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1753 CDH13 is_implicated_in DOID:4362 cervical cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17548682 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18094410 20080507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_implicated_in DOID:8893 psoriasis ECO:0000314 direct assay evidence used in manual assertion PMID:22607558 20120523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3587 FANCF is_implicated_in DOID:4943 adenocarcinoma in situ ECO:0000314 direct assay evidence used in manual assertion PMID:14647419 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 is_implicated_in DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ECO:0000314 direct assay evidence used in manual assertion PMID:15833425 20161005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:12096119 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24997628 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:17900686 20180710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_implicated_in DOID:4947 cholangiocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:11029528 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_implicated_in DOID:224 transient cerebral ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:16533887 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1753 CDH13 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18094410 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17119258 20080626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15897688 20080626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16432 AZIN1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23291631 20190812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:8743 erythema infectiosum ECO:0000314 direct assay evidence used in manual assertion PMID:18384396 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3380 EPB41L3 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25050929 20220330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:8947 diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:18235022 20150922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:8947 diabetic retinopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24508793 20150922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18458324 20150922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_implicated_in DOID:3717 gastric adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16425351 20080130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:9675 pulmonary emphysema ECO:0000314 direct assay evidence used in manual assertion PMID:19537526 20160303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:8991 cervix uteri carcinoma in situ ECO:0000314 direct assay evidence used in manual assertion PMID:17894941 20080201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:616 APOH is_implicated_in DOID:341 peripheral vascular disease ECO:0000314 direct assay evidence used in manual assertion PMID:17626983 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 is_implicated_in DOID:1059 intellectual disability ECO:0000314 direct assay evidence used in manual assertion PMID:12089445 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12089445 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1777 CDK6 is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25050737 20180822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3491 ETV2 is_implicated_in DOID:0050852 limb ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:28424975 20230322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3491 ETV2 is_implicated_in DOID:0050852 limb ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:28466428 20230322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:19506903 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19209030 20171206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20357690 20171206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:172 ACVR1B is_implicated_in DOID:10534 stomach cancer ECO:0000314 direct assay evidence used in manual assertion PMID:32066878 20220324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:26242829 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22291079 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21415852 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25609058 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24512939 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1753 CDH13 is_implicated_in DOID:2871 endometrial carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18519763 20080807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:3526 cerebral infarction ECO:0000314 direct assay evidence used in manual assertion PMID:21998055 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:855 ATP6V0C is_implicated_in DOID:3963 thyroid gland carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:30884810 20190806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_implicated_in DOID:0081292 traumatic brain injury ECO:0000314 direct assay evidence used in manual assertion PMID:29320530 20180815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:8261665 20121109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:17014014 20121109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_implicated_in DOID:3008 invasive ductal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:19549921 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:0050852 limb ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:23294128 20150922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 is_implicated_in DOID:4483 rhinitis ECO:0000314 direct assay evidence used in manual assertion PMID:1890650 20110104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 is_implicated_in DOID:4483 rhinitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11149999 20110104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1579 CCNB1 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:19223507 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:20658957 20160621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:9351 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:17192461 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:0060218 CREST syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:10395706 20170614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1725 CDC25A is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18974148 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2466 CSPG4 is_implicated_in DOID:2378 relapsing-remitting multiple sclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:10976643 20120127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_implicated_in DOID:9182 pemphigus ECO:0000314 direct assay evidence used in manual assertion PMID:21255096 20120905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_implicated_in DOID:8947 diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:19875648 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:23804254 20180821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_implicated_in DOID:8692 myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:26343356 20160715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:33603170 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:6000 congestive heart failure ECO:0000314 direct assay evidence used in manual assertion PMID:20139114 20150923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1753 CDH13 is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:10493953 20080807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1753 CDH13 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10493953 20080807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:1240 leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:8631003 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_not_implicated_in DOID:0080162 lupus nephritis ECO:0000314 direct assay evidence used in manual assertion PMID:20039408 20121109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_implicated_in DOID:14330 Parkinson's disease ECO:0000314 direct assay evidence used in manual assertion PMID:16505307 20180112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_implicated_in DOID:1324 lung cancer ECO:0000314 direct assay evidence used in manual assertion PMID:23915259 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_implicated_in DOID:1324 lung cancer ECO:0000314 direct assay evidence used in manual assertion PMID:23192643 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:1826536 20160111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_implicated_in DOID:3525 middle cerebral artery infarction ECO:0000314 direct assay evidence used in manual assertion PMID:16533887 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 is_implicated_in DOID:1227 neutropenia ECO:0000314 direct assay evidence used in manual assertion PMID:10832225 20160108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_implicated_in DOID:1936 atherosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:18287885 20130311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1515 CAST is_implicated_in DOID:865 vasculitis ECO:0000314 direct assay evidence used in manual assertion PMID:12367559 20111129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_implicated_in DOID:9282 ocular hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:14985792 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_not_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:20039408 20121109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:10332679 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:11689270 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_implicated_in DOID:1826 epilepsy ECO:0000314 direct assay evidence used in manual assertion PMID:7634486 20120217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0000314 direct assay evidence used in manual assertion PMID:18636032 20131025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17334320 20131025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_implicated_in DOID:0060075 estrogen-receptor positive breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:25620615 20220802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23335114 20210604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23128816 20210604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:583 hemolytic anemia ECO:0000314 direct assay evidence used in manual assertion PMID:3136561 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1736 CDC42 is_implicated_in DOID:3355 fibrosarcoma ECO:0000314 direct assay evidence used in manual assertion PMID:17971488 20120223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:30308939 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:2671 transitional cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:16316628 20080206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:10022688 20080130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:4001 ovarian carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18025280 20080624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:5419 schizophrenia ECO:0000314 direct assay evidence used in manual assertion PMID:16984965 20231229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:5419 schizophrenia ECO:0000314 direct assay evidence used in manual assertion PMID:26255563 20231229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19881467 20231229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12402217 20231229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:418 ALDOC is_implicated_in DOID:438 autoimmune disease of the nervous system ECO:0000314 direct assay evidence used in manual assertion PMID:16356555 20080929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_implicated_in DOID:9477 pulmonary embolism ECO:0000314 direct assay evidence used in manual assertion PMID:12958612 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_implicated_in DOID:3070 high grade glioma ECO:0000314 direct assay evidence used in manual assertion PMID:20844987 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_implicated_in DOID:3070 high grade glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9144534 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:784 chronic kidney disease ECO:0000314 direct assay evidence used in manual assertion PMID:21432860 20130522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20353610 20130522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20185929 20130522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23593165 20130522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:31258545 20231009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17405839 20231009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:616 APOH is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:15322656 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:370 AKAP12 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21918680 20190201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000314 direct assay evidence used in manual assertion PMID:12643515 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2363 CRKL is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:17900686 20180710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:10247 pleurisy ECO:0000314 direct assay evidence used in manual assertion PMID:8841835 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0000314 direct assay evidence used in manual assertion PMID:10200468 20160406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1753 CDH13 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18387661 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:18363889 20090819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18075289 20090819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18548168 20090819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1389 CACNA1B is_implicated_in DOID:0050214 Lambert-Eaton myasthenic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:16289869 20070731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:0080162 lupus nephritis ECO:0000314 direct assay evidence used in manual assertion PMID:15693003 20130815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:0080162 lupus nephritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12632425 20130815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:8337 appendicitis ECO:0000314 direct assay evidence used in manual assertion PMID:21663567 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1554 CBX4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:24838576 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1851 CENPA is_implicated_in DOID:417 autoimmune disease ECO:0000314 direct assay evidence used in manual assertion PMID:10759786 20200730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:9250830 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:1909 melanoma ECO:0000314 direct assay evidence used in manual assertion PMID:9758419 20140827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH is_implicated_in DOID:9970 obesity ECO:0000314 direct assay evidence used in manual assertion PMID:11564446 20111025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:874 bacterial pneumonia ECO:0000314 direct assay evidence used in manual assertion PMID:12352049 20160303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_implicated_in DOID:11476 osteoporosis ECO:0000314 direct assay evidence used in manual assertion PMID:29882473 20190814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0000314 direct assay evidence used in manual assertion PMID:7515723 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1507 CASP6 is_implicated_in DOID:4001 ovarian carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17283169 20081006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1777 CDK6 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:23591808 20180103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0000314 direct assay evidence used in manual assertion PMID:20821236 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:395 ALAD is_implicated_in DOID:3132 porphyria cutanea tarda ECO:0000314 direct assay evidence used in manual assertion PMID:8100994 20170517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:395 ALAD is_implicated_in DOID:3132 porphyria cutanea tarda ECO:0000314 direct assay evidence used in manual assertion PMID:526041 20170517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14660 EGLN2 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:20978146 20180117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:4448 macular degeneration ECO:0000314 direct assay evidence used in manual assertion PMID:20346514 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:114 heart disease ECO:0000314 direct assay evidence used in manual assertion PMID:11857055 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:0050848 obstructive sleep apnea ECO:0000314 direct assay evidence used in manual assertion PMID:21493247 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:0060284 paroxysmal nocturnal hemoglobinuria ECO:0000314 direct assay evidence used in manual assertion PMID:6915939 20160315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:10923 sickle cell anemia ECO:0000314 direct assay evidence used in manual assertion PMID:7554454 20160315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_implicated_in DOID:8398 osteoarthritis ECO:0000314 direct assay evidence used in manual assertion PMID:20157712 20120529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:12134 factor VIII deficiency ECO:0000314 direct assay evidence used in manual assertion PMID:26635073 20161117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2634 CYP2J2 is_implicated_in DOID:0050855 renal fibrosis ECO:0000314 direct assay evidence used in manual assertion PMID:22260463 20130507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 is_implicated_in DOID:3393 coronary artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:10973835 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:11335 sarcoidosis ECO:0000314 direct assay evidence used in manual assertion PMID:6287584 20201105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18496980 20201105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29229112 20201105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11168787 20201105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4888 CFHR1 is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:22348216 20160630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_implicated_in DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0000314 direct assay evidence used in manual assertion PMID:19874310 20160630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2169 CNTF is_implicated_in DOID:1686 glaucoma ECO:0000314 direct assay evidence used in manual assertion PMID:19060281 20140521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1078 BMPR2 is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:21737550 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1078 BMPR2 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20002458 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1078 BMPR2 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19785764 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1078 BMPR2 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20534176 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1078 BMPR2 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15775752 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_implicated_in DOID:1936 atherosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:15961700 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:1909 melanoma ECO:0000314 direct assay evidence used in manual assertion PMID:16424035 20220304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:1909 melanoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22319199 20220304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25623140 20220304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25393105 20220304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:4531 mucoepidermoid carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:15999364 20141031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:4362 cervical cancer ECO:0000314 direct assay evidence used in manual assertion PMID:12773202 20080804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2665 CD55 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18288643 20100628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2665 CD55 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16533428 20100628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 is_implicated_in DOID:1852 intrahepatic cholestasis ECO:0000314 direct assay evidence used in manual assertion PMID:30935993 20190701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 is_implicated_in DOID:1852 intrahepatic cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18781607 20190701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:170 ACTR3 is_implicated_in DOID:13768 opisthorchiasis ECO:0000314 direct assay evidence used in manual assertion PMID:25809205 20161220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1964 CHRNB4 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:22945651 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1964 CHRNB4 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23397474 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1919 CHD4 is_implicated_in DOID:9256 colorectal cancer ECO:0000314 direct assay evidence used in manual assertion PMID:28486105 20220811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9437 EIF2AK2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:15567511 20150902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:22345095 20160229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21448932 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1589 CCNE1 is_implicated_in DOID:3458 breast adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18089785 20080125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:2942 bronchiolitis ECO:0000314 direct assay evidence used in manual assertion PMID:17687719 20101025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:8947 diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:19448981 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2899 DLEC1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:27168825 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:3454 brain infarction ECO:0000314 direct assay evidence used in manual assertion PMID:21695352 20131014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1066 BMI1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:16105758 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1974 CHUK is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:26435478 20180123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_implicated_in DOID:3525 middle cerebral artery infarction ECO:0000314 direct assay evidence used in manual assertion PMID:10825390 20150304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1667 CD38 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:12242463 20090522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1667 CD38 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9754820 20090522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_implicated_in DOID:11247 disseminated intravascular coagulation ECO:0000314 direct assay evidence used in manual assertion PMID:3802033 20160630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2634 CYP2J2 is_implicated_in DOID:6432 pulmonary hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:20118222 20130508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_implicated_in DOID:4195 hyperglycemia ECO:0000314 direct assay evidence used in manual assertion PMID:23893332 20130731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:6000 congestive heart failure ECO:0000314 direct assay evidence used in manual assertion PMID:10973842 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_implicated_in DOID:784 chronic kidney disease ECO:0000314 direct assay evidence used in manual assertion PMID:21297177 20130123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:0080832 mild cognitive impairment ECO:0000314 direct assay evidence used in manual assertion PMID:22415896 20230404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:993 BCL2L10 is_implicated_in DOID:5517 stomach carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:21171085 20190304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:993 BCL2L10 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:21760590 20190304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:993 BCL2L10 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24047476 20190304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:106 pleural tuberculosis ECO:0000314 direct assay evidence used in manual assertion PMID:19159432 20101025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13575 BRD4 is_implicated_in DOID:0050156 idiopathic pulmonary fibrosis ECO:0000314 direct assay evidence used in manual assertion PMID:23759512 20140929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 is_implicated_in DOID:219 colon cancer ECO:0000314 direct assay evidence used in manual assertion PMID:20811704 20170830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:26291056 20220715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1910 CHAF1A is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:24836587 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_implicated_in DOID:14330 Parkinson's disease ECO:0000314 direct assay evidence used in manual assertion PMID:16505307 20180112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_implicated_in DOID:10283 prostate cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16984224 20201023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18084610 20201023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000314 direct assay evidence used in manual assertion PMID:27860427 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26042596 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22269154 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 is_implicated_in DOID:1561 cognitive disorder ECO:0000314 direct assay evidence used in manual assertion PMID:20410588 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_implicated_in DOID:10534 stomach cancer ECO:0000314 direct assay evidence used in manual assertion PMID:26934957 20210917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_implicated_in DOID:10534 stomach cancer ECO:0000314 direct assay evidence used in manual assertion PMID:27010547 20210917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26934957 20210917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:14115 toxic shock syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:16076286 20140310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:14115 toxic shock syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19850944 20140310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:9538 multiple myeloma ECO:0000314 direct assay evidence used in manual assertion PMID:12681979 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18111 CCDC50 is_implicated_in DOID:0050746 mantle cell lymphoma ECO:0000314 direct assay evidence used in manual assertion PMID:19641524 20141217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:14330 Parkinson's disease ECO:0000314 direct assay evidence used in manual assertion PMID:20502937 20150715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24190 CAMK2N1 is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:26175272 20200120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 is_implicated_in DOID:11723 Duchenne muscular dystrophy ECO:0000314 direct assay evidence used in manual assertion PMID:15833425 20161005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:11146704 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9686915 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 is_implicated_in DOID:3770 pulmonary fibrosis ECO:0000314 direct assay evidence used in manual assertion PMID:20451601 20110329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:18972094 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15166380 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3049 DSG2 is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000314 direct assay evidence used in manual assertion PMID:30239670 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3049 DSG2 is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30304392 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3049 DSG2 is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30454721 20231030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0000314 direct assay evidence used in manual assertion PMID:22483567 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:30697077 20190528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1848 CEL is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000314 direct assay evidence used in manual assertion PMID:10580419 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050741 alcohol dependence ECO:0000314 direct assay evidence used in manual assertion PMID:16984965 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31150143 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25491588 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20860878 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10698363 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16648777 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11244495 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20517217 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25035107 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24390676 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:386 AKR1C3 is_implicated_in DOID:5603 T-cell acute lymphoblastic leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:26116659 20161010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:11981 morbid obesity ECO:0000314 direct assay evidence used in manual assertion PMID:22828946 20130514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19986 CYCS is_implicated_in DOID:4947 cholangiocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:19788692 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:22267178 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_implicated_in DOID:0080000 muscular disease ECO:0000314 direct assay evidence used in manual assertion PMID:15912881 20070731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:23243267 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17517971 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17517971 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20513133 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10577907 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18037 ARID2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25701229 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18037 ARID2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27351279 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1508 CASP7 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:23979166 20170830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_implicated_in DOID:1561 cognitive disorder ECO:0000314 direct assay evidence used in manual assertion PMID:17536186 20150731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_implicated_in DOID:1561 cognitive disorder ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19101630 20150731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:0080188 chronic myelomonocytic leukemia ECO:0000314 direct assay evidence used in manual assertion PMID:12750705 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:5844 myocardial infarction ECO:0000314 direct assay evidence used in manual assertion PMID:21415704 20150922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:0080745 polymyositis ECO:0000314 direct assay evidence used in manual assertion PMID:12643515 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_implicated_in DOID:2394 ovarian cancer ECO:0000314 direct assay evidence used in manual assertion PMID:22056875 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_implicated_in DOID:2394 ovarian cancer ECO:0000316 genetic interaction evidence used in manual assertion PMID:33760168 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1722 CDK1 is_implicated_in DOID:4362 cervical cancer ECO:0000314 direct assay evidence used in manual assertion PMID:18299147 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_implicated_in DOID:0050782 Zollinger-Ellison syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:10811321 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1854 CENPC is_implicated_in DOID:5082 liver cirrhosis ECO:0000314 direct assay evidence used in manual assertion PMID:25220385 20200529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:8947 diabetic retinopathy ECO:0000314 direct assay evidence used in manual assertion PMID:11707314 20140922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:9810 polyarteritis nodosa ECO:0000314 direct assay evidence used in manual assertion PMID:12643515 20140923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:1727 retinal vein occlusion ECO:0000314 direct assay evidence used in manual assertion PMID:22800650 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:1686 glaucoma ECO:0000314 direct assay evidence used in manual assertion PMID:19422885 20140519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_implicated_in DOID:11247 disseminated intravascular coagulation ECO:0000314 direct assay evidence used in manual assertion PMID:16642548 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:16850344 20080110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_implicated_in DOID:4947 cholangiocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17545000 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_implicated_in DOID:12531 von Willebrand's disease ECO:0000314 direct assay evidence used in manual assertion PMID:4546024 20160630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:842 ATP5MC2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000314 direct assay evidence used in manual assertion PMID:26929985 20190729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3214 EEF2 is_implicated_in DOID:1686 glaucoma ECO:0000314 direct assay evidence used in manual assertion PMID:20107165 20151002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19986 CYCS is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:25578497 20180926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:3310 atopic dermatitis ECO:0000314 direct assay evidence used in manual assertion PMID:19116453 20160310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_implicated_in DOID:3525 middle cerebral artery infarction ECO:0000314 direct assay evidence used in manual assertion PMID:22227456 20160217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:6688 autoimmune lymphoproliferative syndrome ECO:0000314 direct assay evidence used in manual assertion PMID:10200300 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:6688 autoimmune lymphoproliferative syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9028321 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:6688 autoimmune lymphoproliferative syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:2921 glomerulonephritis ECO:0000314 direct assay evidence used in manual assertion PMID:17519558 20120911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13221 BCL11A is_implicated_in DOID:12241 beta thalassemia ECO:0000314 direct assay evidence used in manual assertion PMID:25574177 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13221 BCL11A is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23541515 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13221 BCL11A is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25751242 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13221 BCL11A is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22258351 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1753 CDH13 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:17764565 20080603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3583 FANCB is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:20332657 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_implicated_in DOID:106 pleural tuberculosis ECO:0000314 direct assay evidence used in manual assertion PMID:18357489 20220614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:22509328 20180912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:161 ACTL7A is_implicated_in DOID:12336 male infertility ECO:0000314 direct assay evidence used in manual assertion PMID:26957350 20181227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:9182 pemphigus ECO:0000314 direct assay evidence used in manual assertion PMID:21255096 20110913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:18978557 20221116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3350 ENO1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000314 direct assay evidence used in manual assertion PMID:17387692 20180918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:9146 visceral leishmaniasis ECO:0000314 direct assay evidence used in manual assertion PMID:32984951 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:9146 visceral leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25821028 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:10763 hypertension ECO:0000314 direct assay evidence used in manual assertion PMID:10450539 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 is_implicated_in DOID:1612 breast cancer ECO:0000314 direct assay evidence used in manual assertion PMID:22333693 20131217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0000314 direct assay evidence used in manual assertion PMID:21177803 20110920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19986 CYCS is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:11920648 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 is_implicated_in DOID:2349 arteriosclerosis ECO:0000314 direct assay evidence used in manual assertion PMID:16127462 20070709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:1168 familial hyperlipidemia ECO:0000314 direct assay evidence used in manual assertion PMID:19525846 20160815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:3393 coronary artery disease ECO:0000314 direct assay evidence used in manual assertion PMID:14961168 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_implicated_in DOID:1793 pancreatic cancer ECO:0000314 direct assay evidence used in manual assertion PMID:11115536 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18483392 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:224 transient cerebral ischemia ECO:0000314 direct assay evidence used in manual assertion PMID:24702327 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:1222 cartilage disease ECO:0000314 direct assay evidence used in manual assertion PMID:16447218 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3449 ERN1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:20165882 20200701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_implicated_in DOID:11249 vitamin K deficiency bleeding ECO:0000314 direct assay evidence used in manual assertion PMID:16869104 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:5517 stomach carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:14612939 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000314 direct assay evidence used in manual assertion PMID:17906660 20130326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15203750 20130326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1515 CAST is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0000314 direct assay evidence used in manual assertion PMID:12367559 20111129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24946002 20220408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31113936 20220408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH is_implicated_in DOID:1920 hyperuricemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22436129 20130723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25070141 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30175821 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26603256 20220408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33745946 20220408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14983 ZFP91 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31046116 20220330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_implicated_in DOID:3717 gastric adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30115935 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH is_implicated_in DOID:1287 cardiovascular system disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23192770 20130723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25030088 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26259 ZC3H12A is_implicated_in DOID:2043 hepatitis B ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31926181 20201016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:592 XIAP is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19415464 20100113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_implicated_in DOID:5176 renal Wilms' tumor ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18467665 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32277050 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH is_implicated_in DOID:1919 Lesch-Nyhan syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17697859 20130723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH is_implicated_in DOID:10763 hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18728266 20130723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18712049 20130723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19074809 20140515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:13241 Behcet's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20601837 20170515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12632436 20170515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29884911 20220705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18955789 20091221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22102466 20120619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32774157 20210908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9346 PRDM1 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28378641 20211209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:0111252 vestibular schwannomatosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19587327 20140303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9019169 20170919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11724 TEK is_implicated_in DOID:5176 renal Wilms' tumor ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18467665 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:987 alopecia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11713240 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10499 S100A9 is_implicated_in DOID:820 myocarditis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19151078 20100302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR is_implicated_in DOID:898 autosomal dominant polycystic kidney disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23195001 20130607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9113 PML is_implicated_in DOID:0060318 acute promyelocytic leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9122233 20210203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR is_implicated_in DOID:0111077 pyruvate kinase deficiency of red cells ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19755962 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR is_implicated_in DOID:0111077 pyruvate kinase deficiency of red cells ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16704447 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR is_implicated_in DOID:0111077 pyruvate kinase deficiency of red cells ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23508 STOX1 is_implicated_in DOID:10591 pre-eclampsia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23357179 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23508 STOX1 is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23508 STOX1 is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15806103 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19576799 20091222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21686 RNASET2 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27014725 20220720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11367 STAT5B is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23733954 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:0080884 vitamin D-dependent rickets type 2A ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24693968 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:0080884 vitamin D-dependent rickets type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24859502 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:0080884 vitamin D-dependent rickets type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24246681 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:0080884 vitamin D-dependent rickets type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:0080884 vitamin D-dependent rickets type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25201466 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22938463 20211109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27863410 20220615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8980 PIK3R2 is_implicated_in DOID:3498 pancreatic ductal adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15591514 20190219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_implicated_in DOID:219 colon cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20226010 20220627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_implicated_in DOID:4450 renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17290398 20080722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:6432 pulmonary hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19736308 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19886858 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16339917 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19556740 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 is_implicated_in DOID:8466 retinal degeneration ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16943309 20180423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20216081 20110726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19062735 20110726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19422084 20110726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8630 PEBP1 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18722266 20090120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7669 NCOA2 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25823027 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16806 UBR5 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32867711 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA is_implicated_in DOID:10286 prostate carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9474241 20080418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:0050852 limb ischemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12171788 20140110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10783 SRSF2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28082404 20210914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:5844 myocardial infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17653104 20120612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20518747 20120612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8590 PAK1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17621631 20080813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17175 PLCE1 is_implicated_in DOID:3717 gastric adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24796667 20220415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:2394 ovarian cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25319391 20200131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13447 SLC38A1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26389641 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10498 S100A8 is_implicated_in DOID:820 myocarditis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19151078 20100302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:8893 psoriasis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16821276 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9326391 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:224 transient cerebral ischemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18624913 20140513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11071 SLC9A1 is_implicated_in DOID:6000 congestive heart failure ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18776042 20120726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17413318 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10514107 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH is_implicated_in DOID:14330 Parkinson's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9853519 20110324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33223508 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33707235 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27687306 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14025 SLC5A7 is_implicated_in DOID:1596 depressive disorder ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28420875 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9630 PTN is_implicated_in DOID:3950 adrenal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:1464602 20150309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_implicated_in DOID:8692 myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24486648 20160505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16826192 20100518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8033 NTRK3 is_implicated_in DOID:0080202 adenoid cystic carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23027130 20211019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7585 MYL4 is_implicated_in DOID:0050700 cardiomyopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29080865 20210204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_implicated_in DOID:9743 diabetic neuropathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21056561 20120525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_implicated_in DOID:3007 breast ductal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20978191 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11572944 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12766 NSD2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:34551195 20221114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12766 NSD2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:34551195 20221114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11240 SPHK1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17265031 20090710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR is_implicated_in DOID:8411 kidney angiomyolipoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23054313 20130607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11653 TCN2 is_implicated_in DOID:14330 Parkinson's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20027219 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20195545 20130206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14522256 20130206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16287968 20080722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_implicated_in DOID:0060108 brain glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16923162 20220307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11588 TBP is_implicated_in DOID:0050967 spinocerebellar ataxia type 17 ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23699518 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11588 TBP is_implicated_in DOID:0050967 spinocerebellar ataxia type 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10761 SETDB1 is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23770855 20141117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:3803 Crigler-Najjar syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22094718 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:3803 Crigler-Najjar syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16019265 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:3803 Crigler-Najjar syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24285217 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:3803 Crigler-Najjar syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16337205 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:3803 Crigler-Najjar syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:3803 Crigler-Najjar syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9497253 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24131658 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28347255 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18755892 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11928 TNFSF13 is_implicated_in DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15488762 20150205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7838 NKX3-1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28972178 20190514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB is_implicated_in DOID:3068 glioblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24566984 20180724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29473265 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22977472 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22202234 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23267878 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:9256 colorectal cancer ECO:0000316 genetic interaction evidence used in manual assertion PMID:27661107 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31140864 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33194656 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29756208 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25344691 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33230914 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19862936 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15316498 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18489027 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17573729 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 is_implicated_in DOID:3526 cerebral infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18003894 20171211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9811 RAD21 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33251678 20211022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9077 PLK1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15761500 20080821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:0050700 cardiomyopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17310215 20140728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_implicated_in DOID:0050851 glomerulosclerosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16213192 20130820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9143 PHOX2B is_implicated_in DOID:769 neuroblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26840262 20220408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19561401 20170914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC is_implicated_in DOID:3459 breast carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11497259 20080409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:552 pneumonia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16024721 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:5082 liver cirrhosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29109031 20190627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:14250 Down syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15464862 20140520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10771 SF3B4 is_implicated_in DOID:4362 cervical cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:35853859 20230117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43563 OIP5-AS1 is_implicated_in DOID:2394 ovarian cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33760168 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:13250 diarrhea ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20008138 20210520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16806 UBR5 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28856538 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16806 UBR5 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29296225 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24395569 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11254 SPOP is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30607139 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_implicated_in DOID:14330 Parkinson's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21402140 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_implicated_in DOID:3328 temporal lobe epilepsy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18477594 20151203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:8465 retinoschisis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20876567 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27314562 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 is_implicated_in DOID:0080324 tuberous sclerosis 1 ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26019056 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 is_implicated_in DOID:0080324 tuberous sclerosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17595659 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17406026 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10452 RRM2 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19568409 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:5176 renal Wilms' tumor ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18467665 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18837062 20140513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_implicated_in DOID:2316 brain ischemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16901914 20120531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN is_implicated_in DOID:14330 Parkinson's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16914382 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25639775 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9560156 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26223426 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12629236 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH is_implicated_in DOID:0080855 Parkinsonism ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23831692 20230731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH is_implicated_in DOID:0080855 Parkinsonism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7814018 20230731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:5844 myocardial infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22006090 20140523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11772 TGFBR1 is_implicated_in DOID:3498 pancreatic ductal adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17297450 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28365916 20200522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_implicated_in DOID:3070 high grade glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21677873 20180723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_implicated_in DOID:3070 high grade glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26945107 20180723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_implicated_in DOID:11132 prostatic hypertrophy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22689130 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23170 WDHD1 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30314946 20230215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19805328 20151120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20064547 20151120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10023 RIT1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31247273 20220718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15374974 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9305 PPP2R2B is_implicated_in DOID:936 brain disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21471219 20120118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14695158 20100513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:9965 toxoplasmosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12626571 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA is_implicated_in DOID:3459 breast carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17007568 20080729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_implicated_in DOID:219 colon cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19900191 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 is_implicated_in DOID:0080322 polycystic kidney disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16943309 20180423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11765 TGFA is_implicated_in DOID:2326 gastroenteritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18956197 20100406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13902 SERPINB7 is_implicated_in DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16782060 20130130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_implicated_in DOID:12217 Lewy body dementia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11733371 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_implicated_in DOID:12217 Lewy body dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20697047 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_implicated_in DOID:12217 Lewy body dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11190 SOX10 is_implicated_in DOID:0090111 PCWH syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25959061 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11190 SOX10 is_implicated_in DOID:0090111 PCWH syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:12858 Huntington's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17885687 20151202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9840 RALB is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17174914 20190313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11284 SRD5A1 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16818707 20081222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:0050642 hypochromic microcytic anemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18205195 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33359005 20211129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11526 TACR1 is_implicated_in DOID:0080821 exercise-induced bronchoconstriction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:8630576 20110823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29608 MTDH is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26351209 20210528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9291 PPP1R3A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11793847 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9291 PPP1R3A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9291 PPP1R3A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10389856 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9291 PPP1R3A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12831406 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9291 PPP1R3A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9726244 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9291 PPP1R3A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19553562 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26389641 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14011 SMC2 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23095742 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 is_implicated_in DOID:0080855 Parkinsonism ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16860563 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9253 PPIA is_implicated_in DOID:4947 cholangiocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21871105 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10457 RS1 is_implicated_in DOID:8465 retinoschisis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16027044 20141020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10457 RS1 is_implicated_in DOID:8465 retinoschisis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9618178 20141020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10457 RS1 is_implicated_in DOID:8465 retinoschisis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22245991 20141020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10457 RS1 is_implicated_in DOID:8465 retinoschisis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10220153 20141020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10457 RS1 is_implicated_in DOID:8465 retinoschisis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9326935 20141020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9336 PRAME is_implicated_in DOID:8692 myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16103086 20160919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8616 PAX2 is_implicated_in DOID:5176 renal Wilms' tumor ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18467665 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16806 UBR5 is_implicated_in DOID:4948 gallbladder carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30775814 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12681 VEGFB is_implicated_in DOID:5844 myocardial infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17975666 20091110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9113 PML is_implicated_in DOID:4159 skin cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19058256 20210203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19671868 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_implicated_in DOID:3068 glioblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16489031 20220307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10294 RPE65 is_implicated_in DOID:0110016 Leber congenital amaurosis 2 ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16505056 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10294 RPE65 is_implicated_in DOID:0110016 Leber congenital amaurosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:10763 hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16716903 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19671868 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24954587 20190917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_implicated_in DOID:0060074 ductal carcinoma in situ ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17440163 20080813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8799 PDGFA is_implicated_in DOID:3070 high grade glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21490965 20180723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24452201 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11161 SNRPE is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21688285 20160209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9948 RECQL is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18422747 20100331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10888 SIX2 is_implicated_in DOID:5176 renal Wilms' tumor ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18467665 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_implicated_in DOID:552 pneumonia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17925426 20100927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_implicated_in DOID:3068 glioblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21210235 20160107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:11382 corneal neovascularization ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19596319 20140512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21686 RNASET2 is_implicated_in DOID:1909 melanoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27014725 20220720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:83 cataract ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10954416 20140417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21752789 20120206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18372902 20120206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18309045 20120206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21651514 20120206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10477 RXRA is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19152448 20100406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:6039 uveal melanoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9326241 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11741 TFAM is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22354563 20120713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30815 NEAT1 is_implicated_in DOID:219 colon cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30575330 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_implicated_in DOID:1240 leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21224473 20160506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15925 SAMHD1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30474474 20210721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18124 P2RY12 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15483100 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:3770 pulmonary fibrosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18403781 20101027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB is_implicated_in DOID:4450 renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15994946 20080414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7669 NCOA2 is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25664849 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 is_implicated_in DOID:4195 hyperglycemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17131142 20090630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 is_implicated_in DOID:9538 multiple myeloma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:34268498 20230329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21037555 20190301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:13207 proliferative diabetic retinopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18541841 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:13207 proliferative diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19125195 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:13207 proliferative diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23559865 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_implicated_in DOID:5603 T-cell acute lymphoblastic leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24486648 20160505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:5844 myocardial infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17637430 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12362496 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10531147 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11903359 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:10763 hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20630084 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30620 PDGFD is_implicated_in DOID:11132 prostatic hypertrophy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22689130 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:0060574 von Willebrand's disease 2 ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20589313 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:0060574 von Willebrand's disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10959688 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:0060574 von Willebrand's disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26019279 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:0060574 von Willebrand's disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:0060574 von Willebrand's disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8839848 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_implicated_in DOID:3021 acute kidney failure ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17804460 20120106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:0050741 alcohol dependence ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30748046 20231010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16679777 20231010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18250251 20231010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20077761 20231010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29331390 20210908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33097695 20210908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:3717 gastric adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30380024 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19705461 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:649 prion disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18559949 20180824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11244 SPINK1 is_implicated_in DOID:4989 pancreatitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:8674801 20080916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30119206 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA is_implicated_in DOID:4552 large cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9474241 20080418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9201 POMC is_implicated_in DOID:8398 osteoarthritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21378032 20111024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_implicated_in DOID:0060318 acute promyelocytic leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21059853 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_implicated_in DOID:13372 alpha 1-antitrypsin deficiency ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29641323 20190701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_implicated_in DOID:13372 alpha 1-antitrypsin deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18515255 20190701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_implicated_in DOID:13372 alpha 1-antitrypsin deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11904 TNFRSF10A is_implicated_in DOID:4362 cervical cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16271751 20080314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17101 SUZ12 is_implicated_in DOID:5176 renal Wilms' tumor ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18467665 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9948 RECQL is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18422747 20100331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16806 UBR5 is_implicated_in DOID:3717 gastric adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27590582 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:2349 arteriosclerosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16627808 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_implicated_in DOID:2671 transitional cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15841086 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:10763 hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18316027 20081105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12923396 20081105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:8893 psoriasis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20811392 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9065 PLCG1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33928024 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP is_implicated_in DOID:4467 clear cell renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24335961 20230906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9065 PLCG1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30623526 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11904 TNFRSF10A is_implicated_in DOID:4450 renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17184908 20080314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:4195 hyperglycemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17272778 20140527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7532 MX1 is_implicated_in DOID:4492 avian influenza ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28396461 20210407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_implicated_in DOID:11832 visual epilepsy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19038255 20151208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO is_implicated_in DOID:10584 retinitis pigmentosa ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21268285 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22419850 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23470535 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23402891 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19960070 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2215617 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9810568 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23288993 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_implicated_in DOID:9993 hypoglycemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10935638 20150213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_implicated_in DOID:409 liver disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19487933 20120110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC is_implicated_in DOID:3459 breast carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19382240 20091223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9709 PVT1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30205391 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9709 PVT1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:30205391 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_implicated_in DOID:5082 liver cirrhosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20522742 20190705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2468 SMC3 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29996118 20230221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20456 TRAF7 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31730901 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9896 RBM10 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30955253 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9896 RBM10 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22980975 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:13452 scleritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23177360 20131104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11768 TGFB2 is_implicated_in DOID:5637 pancreatic adenosquamous carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21366804 20221025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC is_implicated_in DOID:2394 ovarian cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:3493065 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8033 NTRK3 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30452981 20211019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR is_implicated_in DOID:2797 idiopathic interstitial pneumonia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21444868 20130613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11527 TACR2 is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19880429 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11527 TACR2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20175803 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8816 PDPK1 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26294745 20180214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21282564 20211108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12597 USH1C is_implicated_in DOID:0050439 Usher syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23380860 20140806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12597 USH1C is_implicated_in DOID:0050439 Usher syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11139240 20140806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11254 SPOP is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33209975 20220729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9031 PLA2G2A is_implicated_in DOID:8534 gastroesophageal reflux disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19672667 20120427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:3070 high grade glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17599090 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11823 TIMP4 is_implicated_in DOID:2154 nephroblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11466614 20080312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:11394 adult respiratory distress syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19916860 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23559092 20220908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_implicated_in DOID:3410 carotid artery thrombosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21885846 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29957833 20220616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10717 SEL1L is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14508516 20100318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA is_implicated_in DOID:2394 ovarian cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10589745 20080714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21905970 20111012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:4450 renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19384924 20091221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18538140 20211109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15014358 20190311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12563673 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25311255 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_implicated_in DOID:127 leiomyoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12517589 20080424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9841 RALBP1 is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22509328 20190313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28981 TUT4 is_implicated_in DOID:916 liver benign neoplasm ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24056962 20160818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11772 TGFBR1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9363992 20081117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:14330 Parkinson's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16353238 20140523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15754006 20180221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19152448 20100406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19436234 20100406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_implicated_in DOID:219 colon cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29899829 20220527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24603331 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:3070 high grade glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11810046 20160120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 is_implicated_in DOID:3721 plasmacytoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:34268498 20230329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9948 RECQL is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18422747 20100331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9948 RECQL is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16540687 20100331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9948 RECQL is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19768149 20100331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20103642 20180219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18682608 20090609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31040266 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23876925 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16431959 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12189160 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22933836 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22736945 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11595024 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17197538 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19145250 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9535666 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10196380 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19688280 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15483649 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12447164 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21655360 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22879734 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18334962 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23453510 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9005853 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31746347 20211101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_implicated_in DOID:5151 plexiform neurofibroma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17335073 20210519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22859707 20210812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:6000 congestive heart failure ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21135513 20110426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14621 NUF2 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25370920 20200605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9846 RAN is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22114719 20150323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:4492 avian influenza ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18613795 20110725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7605 MYO6 is_implicated_in DOID:2394 ovarian cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15146066 20091210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29641600 20180815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7596406 20180815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12441 TYMS is_implicated_in DOID:1520 colon carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17848948 20110617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28892081 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_implicated_in DOID:8683 myeloid sarcoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22348015 20160506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:10629 microphthalmia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18507827 20140417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:5041 esophageal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20378992 20210622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33536603 20220527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19672627 20220527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:3068 glioblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15692608 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF is_implicated_in DOID:1798 pancreatic endocrine carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26861455 20190206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21686 RNASET2 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30842415 20220720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18006 NISCH is_implicated_in DOID:6000 congestive heart failure ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12021582 20150324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:1287 cardiovascular system disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21843325 20111006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18394743 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18598350 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6773 SMAD7 is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10498890 20190325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9386 PRKAG2 is_implicated_in DOID:384 Wolff-Parkinson-White syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15611370 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9386 PRKAG2 is_implicated_in DOID:384 Wolff-Parkinson-White syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9386 PRKAG2 is_implicated_in DOID:384 Wolff-Parkinson-White syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11748095 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:2921 glomerulonephritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12897205 20170816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:2394 ovarian cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18347155 20210622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_implicated_in DOID:7305 astroblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26956052 20180816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10771 SF3B4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30391496 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16984224 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17700571 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11925 TNFSF10 is_implicated_in DOID:2349 arteriosclerosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17000905 20090901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11140 SNCB is_implicated_in DOID:12217 Lewy body dementia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15483670 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11140 SNCB is_implicated_in DOID:12217 Lewy body dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15365127 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11140 SNCB is_implicated_in DOID:12217 Lewy body dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31286874 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23136185 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7637 NAP1L1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25071868 20141112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_implicated_in DOID:3355 fibrosarcoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10753499 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10901 SKP2 is_implicated_in DOID:10286 prostate carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12670908 20091215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10524 SALL1 is_implicated_in DOID:5176 renal Wilms' tumor ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18467665 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 is_implicated_in DOID:3525 middle cerebral artery infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32962079 20210114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB is_implicated_in DOID:3068 glioblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21188471 20180816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11363 STAT2 is_implicated_in DOID:0060478 Zika fever ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29746837 20210224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 is_implicated_in DOID:13619 extrahepatic cholestasis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22057115 20190917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:2999 granulosa cell tumor ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19524286 20091223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33099 SNHG20 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30780105 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31242038 20210912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:231 motor neuron disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11717358 20200924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19293779 20140520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29402970 20211008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31566 MIR195 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25607636 20191217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_implicated_in DOID:12858 Huntington's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11860469 20151029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:0050855 renal fibrosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14674437 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16382177 20210818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21765853 20210818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16113600 20210818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18824271 20210818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26783749 20210818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17284779 20210818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16552513 20210818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20535137 20210818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17284223 20210818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_implicated_in DOID:231 motor neuron disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22976834 20151103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 is_implicated_in DOID:5603 T-cell acute lymphoblastic leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25193870 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26754630 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_implicated_in DOID:8893 psoriasis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20926833 20140818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24874542 20181001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24022074 20181001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26937653 20181001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18830724 20181001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27005999 20160714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23777766 20160714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22683780 20160714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4271 GIPR is_implicated_in DOID:9351 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15582721 20090828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_implicated_in DOID:7147 ankylosing spondylitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24035250 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4056 G6PC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28096054 20190705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31874 MIR381 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29287202 20180102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19252918 20151123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11520987 20151123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23116876 20151123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18587238 20151123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31255687 20221128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH is_implicated_in DOID:4450 renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10962030 20081014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25517 HEATR1 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26676747 20160205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12184521 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29136 KDM4B is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24473398 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5471 IGFBP2 is_implicated_in DOID:9970 obesity ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17259371 20070809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:1588 thrombocytopenia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10201963 20160317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6847 MAP2K7 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18436711 20221020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_implicated_in DOID:0080855 Parkinsonism ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15585408 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:850 lung disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18962899 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6112 IRAK1 is_implicated_in DOID:1749 squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24302991 20131212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:3068 glioblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26325365 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22009537 20200120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29713162 20200120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21205 LINGO1 is_implicated_in DOID:1686 glaucoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19422885 20140519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:9255 frontotemporal dementia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16407562 20230920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:9255 frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9641683 20230920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:9255 frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:9255 frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19766248 20230920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR is_implicated_in DOID:9351 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15476492 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:0080855 Parkinsonism ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12451130 20230731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:0080855 Parkinsonism ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15684695 20230731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:0080855 Parkinsonism ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23831692 20230731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32973082 20211026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26432329 20211026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20844967 20211026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:7843 female breast carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31255687 20221128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31613 MIR27A is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30083261 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31613 MIR27A is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29143999 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_implicated_in DOID:5844 myocardial infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15999059 20140820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT is_implicated_in DOID:12858 Huntington's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:8898202 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT is_implicated_in DOID:12858 Huntington's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17940007 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21163446 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26938440 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8242074 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7132 KMT2A is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33542482 20230207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7132 KMT2A is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8361504 20230207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31662324 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21887682 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18039 KDM5B is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21369698 20141017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30128035 20210722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15461 MANF is_implicated_in DOID:0080855 Parkinsonism ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19641128 20100610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:0070004 myeloid neoplasm ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15448205 20160714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:0070004 myeloid neoplasm ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12969958 20160714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:0050625 biliary tract benign neoplasm ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18798553 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:0060041 autism spectrum disorder ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25466251 20170718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23175521 20141125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17670937 20091002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:4905 pancreatic carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17414626 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:1407 anterior uveitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19693263 20140410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 is_implicated_in DOID:2394 ovarian cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25319391 20200131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6993 MEF2A is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16469744 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20926833 20140818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3999 FTL is_implicated_in DOID:1289 neurodegenerative disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19519778 20111109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3999 FTL is_implicated_in DOID:1289 neurodegenerative disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15099026 20111109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28859 HILPDA is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23916472 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32367071 20210722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6866 MAP4K4 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28306189 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5392 IER3 is_implicated_in DOID:0081312 T-cell non-Hodgkin lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14534530 20150202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19940022 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20181264 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25869210 20210715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21325979 20210715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19885860 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19732452 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14559833 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7376 MSR1 is_implicated_in DOID:2349 arteriosclerosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14664792 20090320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6860 MAP3K8 is_implicated_in DOID:4467 clear cell renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23982215 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:865 vasculitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21071471 20110418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG is_implicated_in DOID:3571 liver cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27367027 20220809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33662 MIR665 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30237408 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33662 MIR665 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:30237408 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5034 HNRNPAB is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24638979 20150812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR is_implicated_in DOID:14330 Parkinson's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18184918 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6563 LGALS3 is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16424226 20141229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28859 HILPDA is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31142329 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27025877 20210715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18039 KDM5B is_implicated_in DOID:3070 high grade glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25450384 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:1926 Gaucher's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21112800 20170227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:1926 Gaucher's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18586596 20170227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:1926 Gaucher's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17059888 20170227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31635 MIR34A is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25217526 20190617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5045 HNRNPL is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20972334 20150420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:3717 gastric adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30177394 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7459 MT-ND4 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18771762 20111006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7459 MT-ND4 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12436196 20111006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7459 MT-ND4 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19022198 20111006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7459 MT-ND4 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20454697 20111006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7459 MT-ND4 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16364244 20111006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7459 MT-ND4 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3201231 20111006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:10608 celiac disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19494267 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11713456 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18509540 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11426458 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16567828 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17919990 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32083 MIR432 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26942465 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20815 KDM3A is_implicated_in DOID:219 colon cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19858293 20141120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 is_implicated_in DOID:3070 high grade glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21057530 20180719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6846 MAP2K6 is_implicated_in DOID:397 restrictive cardiomyopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11593045 20150113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31516 MIR132 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29442000 20220330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4196 GCKR is_implicated_in DOID:783 end stage renal disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21980298 20130403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:0080000 muscular disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:7635990 20150113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:8692 myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19506298 20160714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:2405400 20090623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:4467 clear cell renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32817424 20230519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5975 IL13RA2 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11748276 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3665 FGF1 is_implicated_in DOID:2316 brain ischemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16635575 20111109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_implicated_in DOID:2043 hepatitis B ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30115930 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6846 MAP2K6 is_implicated_in DOID:4362 cervical cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20980434 20131216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH is_implicated_in DOID:1380 endometrial cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15784701 20081013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:12306 vitiligo ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16117796 20140312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:9675 pulmonary emphysema ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18408070 20110406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:6432 pulmonary hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21063214 20110329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:36098468 20230302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:10907 microcephaly ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20668042 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31632 MIR320A is_implicated_in DOID:9538 multiple myeloma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27086852 20230131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6860 MAP3K8 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23828905 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6150 ITGAV is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23770013 20160128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23555816 20190612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10791191 20190612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_implicated_in DOID:12306 vitiligo ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23447019 20140625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17143550 20091012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31139021 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:1936 atherosclerosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11375412 20130116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29136 KDM4B is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24077348 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29136 KDM4B is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22133676 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20609706 20151016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24812550 20151016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12097255 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:0060903 thrombosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20585032 20160318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:0060903 thrombosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18983497 20160318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25048216 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16634037 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15580560 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11741828 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17994539 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18671187 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17113772 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21296577 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31765 MIR302D is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28352351 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18950807 20090324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18262338 20090324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11726548 20090324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:10763 hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20836698 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12872043 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:8283 peritonitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18962899 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3687 FGF9 is_implicated_in DOID:263 kidney cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26183774 20220526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12126634 20110906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10608 celiac disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19494267 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11713456 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17919990 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18509540 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28247576 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30013750 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11426458 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29793442 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:8892684 20160421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:4467 clear cell renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19509240 20130425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 is_implicated_in DOID:14330 Parkinson's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18704197 20120314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32765772 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30297912 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28990424 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25870942 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15469427 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19664584 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19656453 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9860299 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19138865 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24997713 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19656452 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9455613 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30385147 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10453740 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10667475 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14757946 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8270256 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS is_implicated_in DOID:3890 acute intermittent porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9523350 20200218 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13606 KDM2A is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24482232 20141023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:2048 autoimmune hepatitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9195373 20190612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31501 MIR122 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25269820 20190318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_implicated_in DOID:9008 psoriatic arthritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23361084 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT is_implicated_in DOID:14330 Parkinson's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26192120 20171117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3608 FCAR is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21985370 20130327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6664 LOX is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21282564 20211108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:0081312 T-cell non-Hodgkin lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19506298 20160714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3657 FES is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31573955 20220811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27035278 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27531892 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29466992 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6847 MAP2K7 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:34236045 20220922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:9970 obesity ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31801409 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23134754 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29540276 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23111453 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21919686 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3608 FCAR is_implicated_in DOID:0050855 renal fibrosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18250479 20130327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5329 IAPP is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18641056 20090918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26452103 20180122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:4195 hyperglycemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19819955 20160721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21473952 20110811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4056 G6PC1 is_implicated_in DOID:2749 glycogen storage disease Ia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20389290 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4056 G6PC1 is_implicated_in DOID:2749 glycogen storage disease Ia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4056 G6PC1 is_implicated_in DOID:2749 glycogen storage disease Ia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11851840 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16724092 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16409203 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17107994 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18763028 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15020290 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18926055 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:5517 stomach carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31255687 20221128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6843 MAP2K3 is_implicated_in DOID:397 restrictive cardiomyopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11593045 20150113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 is_implicated_in DOID:8283 peritonitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18799727 20161110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13590 FBXO11 is_implicated_in DOID:3459 breast carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25203322 20220502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_implicated_in DOID:0081082 acute myelomonocytic leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22187040 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19233 FUT11 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:37483811 20231103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6143 ITGA7 is_implicated_in DOID:11723 Duchenne muscular dystrophy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23319059 20180525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31200834 20220216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31517 MIR133A1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30086463 20220819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6465 KSR1 is_implicated_in DOID:3458 breast adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24909178 20210603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6293 KCNN4 is_implicated_in DOID:0001816 angiosarcoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27531900 20230717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22044935 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19404517 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11776304 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10996832 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21173099 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10089893 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23995613 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5434 IFNB1 is_implicated_in DOID:768 retinoblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19306089 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11908679 20080304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_implicated_in DOID:4001 ovarian carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16424028 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6842 MAP2K2 is_implicated_in DOID:4906 small intestine adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19014680 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31509 MIR127 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27869168 20220615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4196 GCKR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21411509 20130402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4196 GCKR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11473043 20130402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4196 GCKR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18556336 20130402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4196 GCKR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19241058 20130402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:9282 ocular hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20089869 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:1205 allergic disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22025730 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4545 GRK6 is_implicated_in DOID:14330 Parkinson's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22090514 20120104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17724290 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1210 optic neuritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22167100 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH is_implicated_in DOID:2394 ovarian cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11710593 20081013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6876 MAPK14 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32449282 20220328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22224 KDM7A is_implicated_in DOID:1909 melanoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22143793 20141021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25098679 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:2154 nephroblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22529373 20170518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:2154 nephroblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:8390684 20170518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12808442 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6017 IL5RA is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20513521 20110314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6017 IL5RA is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16217591 20110314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6017 IL5RA is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20592918 20110314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:769 neuroblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17121898 20130426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32088 MIR497 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31115562 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_implicated_in DOID:11476 osteoporosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28079119 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_implicated_in DOID:11054 urinary bladder cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19914824 20130418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18413799 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18166262 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18231634 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10471491 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_implicated_in DOID:9146 visceral leishmaniasis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29483288 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24482232 20141119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4174 GATA6 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24452072 20170822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30314946 20230215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18541 KMT2E is_implicated_in DOID:4362 cervical cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25172963 20141030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32879445 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31522 MIR136 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:34556984 20220912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5009 HMGA2 is_implicated_in DOID:2394 ovarian cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18452175 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5975 IL13RA2 is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11748276 20140328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5975 IL13RA2 is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17438063 20140328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6006 IL21R is_implicated_in DOID:13241 Behcet's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21724243 20120816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB is_implicated_in DOID:3571 liver cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27367027 20220809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:12858 Huntington's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11860469 20151029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29402970 20220520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19296538 20220520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16061909 20220520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6052 IMPDH1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18385099 20140307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6052 IMPDH1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11875050 20140307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6052 IMPDH1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11875049 20140307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18363 IFNL1 is_implicated_in DOID:0080600 COVID-19 ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32854108 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_implicated_in DOID:0080855 Parkinsonism ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20729864 20111017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21683551 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20825955 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12126634 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27511526 20210720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24356998 20220526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4800 HSD17B10 is_implicated_in DOID:0050771 pheochromocytoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25879199 20180928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:2340 craniosynostosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19627528 20170330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:2340 craniosynostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8946174 20170330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:2340 craniosynostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19624690 20170330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22050790 20210625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6550 LECT2 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30453282 20220817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 is_implicated_in DOID:8761 acute megakaryocytic leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16843266 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21408206 20150122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22055719 20150122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:8893 psoriasis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16181457 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6293 KCNN4 is_implicated_in DOID:3526 cerebral infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29037241 20230726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:4450 renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30648791 20230519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5154 HPGD is_implicated_in DOID:1520 colon carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19494278 20120306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB is_implicated_in DOID:2723 dermatitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20200541 20131211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_implicated_in DOID:219 colon cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28211508 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:10762 portal hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26385087 20200117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15050920 20160714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:3525 middle cerebral artery infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20888632 20160202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 is_implicated_in DOID:4906 small intestine adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19014680 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29136 KDM4B is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21445275 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 is_implicated_in DOID:0081312 T-cell non-Hodgkin lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24153015 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33139 MIR766 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32048611 20220819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB is_implicated_in DOID:1909 melanoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28976960 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19637194 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:3068 glioblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12439751 20140304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:5082 liver cirrhosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12389079 20160204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:583 hemolytic anemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15982355 20160317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6128 IRS4 is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33894221 20220208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3766 FLT3LG is_implicated_in DOID:1520 colon carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10842197 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR is_implicated_in DOID:1307 dementia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17640385 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7132 KMT2A is_implicated_in DOID:4362 cervical cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22926525 20141022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5224 HSF1 is_implicated_in DOID:12858 Huntington's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16051598 20151021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 is_implicated_in DOID:9538 multiple myeloma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19996089 20160726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_implicated_in DOID:5844 myocardial infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22814400 20230918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11571236 20230918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12417295 20230918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:12241 beta thalassemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16631345 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:6280057 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:6457059 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3033668 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4830 HBE1 is_implicated_in DOID:10923 sickle cell anemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12124399 20160725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4830 HBE1 is_implicated_in DOID:10923 sickle cell anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23409025 20160725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29658 MESP1 is_implicated_in DOID:5844 myocardial infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32550911 20230327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28849200 20190116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18363 IFNL1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24769671 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27196761 20180123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_implicated_in DOID:3347 osteosarcoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:35117781 20230224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20497957 20101210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18200581 20101210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17767553 20101210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19745201 20101210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16433859 20101210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3686 FGF8 is_implicated_in DOID:8634 prostate carcinoma in situ ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12208767 20080926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:14115 toxic shock syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15516267 20160808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:14115 toxic shock syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23014359 20160808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:3571 liver cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27788478 20200110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23079781 20220603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28871 IER2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32009420 20220816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18129 GHRL is_implicated_in DOID:9743 diabetic neuropathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19733151 20091013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:4971 myelofibrosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22796437 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15781101 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3766 FLT3LG is_implicated_in DOID:3070 high grade glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15564139 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6550 LECT2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21394108 20220817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR is_implicated_in DOID:8805 intermediate coronary syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18333374 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23770013 20160128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN is_implicated_in DOID:3068 glioblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21863062 20230815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26909602 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_implicated_in DOID:3905 lung carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31221478 20220406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29535520 20200324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:3525 middle cerebral artery infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:7790404 20140410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20084838 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27217 LINC00689 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32682784 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:9538 multiple myeloma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:7834632 20160802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31606 MIR23B is_implicated_in DOID:4001 ovarian carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26872615 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32682784 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B is_implicated_in DOID:219 colon cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28408316 20210928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32083 MIR432 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25797263 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3665 FGF1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11908679 20080304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17942922 20100324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4432 GOT1 is_implicated_in DOID:3498 pancreatic ductal adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23535601 20180129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31563 MIR193A is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31205511 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22095073 20161214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14977818 20081202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26090866 20230209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR is_implicated_in DOID:3393 coronary artery disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12742282 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:48571 LINC00885 is_implicated_in DOID:4362 cervical cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33603486 20220718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 is_implicated_in DOID:0050879 fragile X-associated tremor/ataxia syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15876460 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 is_implicated_in DOID:0050879 fragile X-associated tremor/ataxia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3766 FLT3LG is_implicated_in DOID:3068 glioblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18079358 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6029 IL9 is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21356110 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:8683 myeloid sarcoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23564351 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:12554 hemolytic-uremic syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27378476 20160823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:9743 diabetic neuropathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15734864 20091002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:11054 urinary bladder cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12215294 20081031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:10763 hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12925450 20230801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17717598 20230801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31614 MIR27B is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26623719 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31614 MIR27B is_implicated_in DOID:10534 stomach cancer ECO:0000316 genetic interaction evidence used in manual assertion PMID:26623719 20220224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6843 MAP2K3 is_implicated_in DOID:4362 cervical cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20980434 20131213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15840 KMT2B is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22713656 20141031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:2316 brain ischemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19332057 20090430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31069596 20210712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20815 KDM3A is_implicated_in DOID:4362 cervical cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23492365 20141120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_implicated_in DOID:9111 cutaneous leishmaniasis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28709468 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_implicated_in DOID:9111 cutaneous leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32023240 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_implicated_in DOID:2559 opiate dependence ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10653207 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12000720 20091016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:2256 osteochondrodysplasia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15476249 20170117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:707 B-cell lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20616215 20110915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:3021 acute kidney failure ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14747378 20121129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:3021 acute kidney failure ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19887504 20121129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:0050873 follicular lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25582824 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3214 EEF2 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19360331 20220802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:2394 ovarian cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17384678 20210521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18256760 20210521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9700175 20210521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20292 CAB39 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28605041 20190503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2529 CTSD is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12140763 20150113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3012 DPYD is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18309485 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R is_implicated_in DOID:0080187 chronic neutrophilic leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24081659 20160114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R is_implicated_in DOID:0080187 chronic neutrophilic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23604229 20160114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:590 BIRC2 is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12218061 20080111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20638364 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28665687 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_implicated_in DOID:14179 X-linked agammaglobulinemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15142874 20210325 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_implicated_in DOID:14179 X-linked agammaglobulinemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20574453 20210325 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_implicated_in DOID:14179 X-linked agammaglobulinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12655572 20210325 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_implicated_in DOID:14179 X-linked agammaglobulinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15024743 20210325 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_implicated_in DOID:14179 X-linked agammaglobulinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210325 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24190 CAMK2N1 is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25003983 20200121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21439671 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27040853 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15118073 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:224 transient cerebral ischemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19440222 20170725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1722 CDK1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17145867 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10623 CCL24 is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17548626 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10623 CCL24 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12761043 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10623 CCL24 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18712274 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10623 CCL24 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15207712 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 is_implicated_in DOID:10763 hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18285514 20100122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB is_implicated_in DOID:0070195 X-linked chronic granulomatous disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12804147 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB is_implicated_in DOID:0070195 X-linked chronic granulomatous disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB is_implicated_in DOID:0070195 X-linked chronic granulomatous disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7694872 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB is_implicated_in DOID:0070195 X-linked chronic granulomatous disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10068684 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12481414 20100408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19355812 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12215887 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24366883 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31935503 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24386361 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23738012 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23908149 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19955392 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_implicated_in DOID:13564 aspergillosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21381282 20110422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:0040088 autoimmune uveitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28011398 20211105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:707 B-cell lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29456795 20210416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2537 CTSL is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19096818 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21481795 20190821 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0000316 genetic interaction evidence used in manual assertion PMID:25133686 20190821 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12067277 20190821 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190821 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23289634 20190821 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3021820 20190821 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_implicated_in DOID:707 B-cell lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28348046 20210322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_implicated_in DOID:3347 osteosarcoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29039472 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:3458 breast adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:8589721 20210521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2593 CYP17A1 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18645193 20101118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 is_implicated_in DOID:1440 Machado-Joseph disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21478185 20120514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27323812 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32377988 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:108 ACHE is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16581404 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3227 EFNB2 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26494468 20220809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 is_implicated_in DOID:0050458 juvenile myelomonocytic leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9389708 20160111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:12577 urethral obstruction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12050560 20130830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1515 CAST is_implicated_in DOID:0110663 congenital myasthenic syndrome 1A ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17853947 20111104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:8566 herpes simplex ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17101197 20131220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11520987 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29641600 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17506994 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16369530 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15201367 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17974127 20200630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32553273 20200630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1103 BRD2 is_implicated_in DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14563639 20140929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:1063 interstitial nephritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21383672 20121106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:12858 Huntington's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17885687 20151202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:651 AREG is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16438846 20080430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18047955 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:8584 Burkitt lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9858521 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:8584 Burkitt lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10961892 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1863 CES1 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33878036 20220613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:3070 high grade glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21749867 20150922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_implicated_in DOID:6432 pulmonary hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25225206 20201117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1051 BIK is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14633680 20190401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_implicated_in DOID:3070 high grade glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21749867 20150922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:108 ACHE is_implicated_in DOID:437 myasthenia gravis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17986328 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_implicated_in DOID:0050746 mantle cell lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17374736 20220314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3584 FANCC is_implicated_in DOID:12450 pancytopenia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10627482 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3009 DPP4 is_implicated_in DOID:0080642 Middle East respiratory syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30256968 20200626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3009 DPP4 is_implicated_in DOID:0080642 Middle East respiratory syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30626685 20200626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3009 DPP4 is_implicated_in DOID:0080642 Middle East respiratory syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31838832 20200626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11177556 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:2799 bronchiolitis obliterans ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9595474 20140623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:219 colon cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19256344 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:8536 herpes zoster ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11449671 20201123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2654 CCN1 is_implicated_in DOID:3070 high grade glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15026334 20230526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_implicated_in DOID:3347 osteosarcoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29039472 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3546 F8 is_implicated_in DOID:12134 factor VIII deficiency ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10468616 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3546 F8 is_implicated_in DOID:12134 factor VIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16786531 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3546 F8 is_implicated_in DOID:12134 factor VIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3546 F8 is_implicated_in DOID:12134 factor VIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10612839 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:3068 glioblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25595591 20190916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25708834 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25347427 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28803429 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31609782 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:1520 colon carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22319199 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3227 EFNB2 is_implicated_in DOID:1520 colon carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15083195 20220809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 is_implicated_in DOID:1380 endometrial cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28177909 20210302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:8634 prostate carcinoma in situ ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19700748 20130830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 is_implicated_in DOID:83 cataract ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21329682 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24360973 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:10591 pre-eclampsia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20530295 20170927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8513325 20170927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_implicated_in DOID:0080176 meningococcal meningitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12869763 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2843 DGAT1 is_implicated_in DOID:0050700 cardiomyopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21220706 20150922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18467313 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32304779 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:3498 pancreatic ductal adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33028359 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:3498 pancreatic ductal adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29072694 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:3347 osteosarcoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26265454 20210416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_implicated_in DOID:2773 contact dermatitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12055630 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:13948 bladder neck obstruction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21356374 20130830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:0050700 cardiomyopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23723143 20140806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18172282 20080509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20096799 20100901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19493329 20100901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20156752 20100901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1919 CHD4 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28486105 20220811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_implicated_in DOID:10286 prostate carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24838891 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17451 CYSLTR1 is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:8087328 20101119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17451 CYSLTR1 is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11591188 20101119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17451 CYSLTR1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17153879 20101119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17451 CYSLTR1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16630147 20101119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:2355 anemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23141116 20160229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:2355 anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18156303 20160229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2518 CTNS is_implicated_in DOID:1064 cystinosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18578013 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2518 CTNS is_implicated_in DOID:1064 cystinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2518 CTNS is_implicated_in DOID:1064 cystinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10068513 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2518 CTNS is_implicated_in DOID:1064 cystinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9792862 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2518 CTNS is_implicated_in DOID:1064 cystinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11565547 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2518 CTNS is_implicated_in DOID:1064 cystinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9537412 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23792570 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_implicated_in DOID:0080821 exercise-induced bronchoconstriction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10984370 20101217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_implicated_in DOID:848 arthritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16575857 20120425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:8856156 20110104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11517947 20110104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_implicated_in DOID:8584 Burkitt lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30546948 20210325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26800504 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30190423 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_implicated_in DOID:1115 sarcoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19532136 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17451 CYSLTR1 is_implicated_in DOID:4483 rhinitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18946234 20101119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:1909 melanoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17327609 20160805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:172 ACVR1B is_implicated_in DOID:1790 malignant mesothelioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30061637 20220324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15269313 20110506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21398618 20110506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3227 EFNB2 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29190834 20220808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1950 CHRM1 is_implicated_in DOID:437 myasthenia gravis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17764462 20110615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20638364 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32211850 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30630498 20220715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24625449 20141107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:10825 essential hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18604484 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 is_implicated_in DOID:2394 ovarian cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17974506 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_implicated_in DOID:0050934 ovarian clear cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21900401 20210405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23804702 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33543294 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_implicated_in DOID:6000 congestive heart failure ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12724418 20180628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:8432 polycythemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18339134 20160229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3009 DPP4 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19705345 20091009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:3068 glioblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10720483 20140423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25595591 20210413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22228224 20210413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_implicated_in DOID:1588 thrombocytopenia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15613547 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2046 CLDN4 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19555390 20100412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3446 ERG is_implicated_in DOID:8692 myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23719302 20160120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:9743 diabetic neuropathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19244253 20091026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1771 CDK2 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16648554 20080604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24496383 20180102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1791 CDKN3 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23292002 20191219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18678611 20091120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_implicated_in DOID:0080599 Coronavirus infectious disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20864747 20110422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_implicated_in DOID:8947 diabetic retinopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21792177 20201117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_implicated_in DOID:8947 diabetic retinopathy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31380462 20201117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30251 BAMBI is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29085481 20190221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3570 ACSL3 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27270436 20181220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1700 CD80 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19658094 20110527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21396 ABHD5 is_implicated_in DOID:234 colon adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30842415 20220720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16648554 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:2349 arteriosclerosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19260948 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_implicated_in DOID:4450 renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22052465 20130826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17804712 20080509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:9538 multiple myeloma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10866315 20160804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:453 AMBP is_implicated_in DOID:3021 acute kidney failure ECO:0000315 mutant phenotype evidence used in manual assertion PMID:8963945 20121016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16841081 20100528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17363587 20100528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18037 ARID2 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33262464 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1577 CCNA1 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18612129 20100204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3119 E2F5 is_implicated_in DOID:10286 prostate carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33390186 20221103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_implicated_in DOID:615 leukopenia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21890643 20120329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:552 pneumonia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19455553 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:552 pneumonia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20051911 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18283311 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26205068 20220428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_implicated_in DOID:219 colon cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26069190 20210501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:0080600 COVID-19 ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32228222 20200618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:10763 hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11078355 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17444275 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:8584 Burkitt lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9192773 20160803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1051 BIK is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14633680 20190401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19151195 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19326440 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 is_implicated_in DOID:2394 ovarian cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19254481 20100629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27486763 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28449811 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27230 ESCO2 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33573689 20230104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28544312 20220426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27007162 20220426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1919 CHD4 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32228507 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1919 CHD4 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29667179 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17947667 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM is_implicated_in DOID:10907 microcephaly ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20823249 20171016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM is_implicated_in DOID:10907 microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16141009 20171016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM is_implicated_in DOID:10907 microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19808985 20171016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:11111 hydronephrosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12399452 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1602 CCR1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12860725 20120220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_implicated_in DOID:11832 visual epilepsy ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25879152 20150731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 is_implicated_in DOID:3347 osteosarcoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28339091 20210302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_implicated_in DOID:0050746 mantle cell lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23045577 20160314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:206 ADAM28 is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19549921 20220728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20364069 20210422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2634 CYP2J2 is_implicated_in DOID:10763 hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20501636 20130508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2634 CYP2J2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17286575 20130508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3263 AGO2 is_implicated_in DOID:1686 glaucoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29392316 20231117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_implicated_in DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21481795 20160226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR is_implicated_in DOID:0080202 adenoid cystic carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32001675 20210826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1910 CHAF1A is_implicated_in DOID:769 neuroblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24335960 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16940 DGAT2 is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17618857 20150923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2705 DCN is_implicated_in DOID:3459 breast carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18688028 20090714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_implicated_in DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24793484 20200312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_implicated_in DOID:0050873 follicular lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17374736 20220314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:758 ASS1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12359751 20100831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:1936 atherosclerosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12451000 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:4448 macular degeneration ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16079201 20131230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19384966 20131230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12567264 20131230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1051 BIK is_implicated_in DOID:219 colon cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17636408 20190401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3538 F2RL1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21245013 20110224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19062044 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:8893 psoriasis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10974034 20131118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:32850446 20210506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:12361 Graves' disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:8875745 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_implicated_in DOID:3721 plasmacytoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14695177 20160809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_implicated_in DOID:8923 skin melanoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31271515 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:0060161 Kennedy's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26942099 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:0060161 Kennedy's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2062380 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:0060161 Kennedy's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:0060161 Kennedy's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8469342 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_implicated_in DOID:1037 lymphoid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21998213 20160725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17452677 20110506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25351982 20160715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:607 APOC1 is_implicated_in DOID:9970 obesity ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11723061 20091028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19079609 20100114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:905 AXL is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:10528229 20100611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:359 AIPL1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19710705 20140808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR is_implicated_in DOID:1324 lung cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25010037 20210827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3353 ENO2 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15239127 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19173988 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:9669 senile cataract ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16129095 20150518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 is_implicated_in DOID:7474 malignant pleural mesothelioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18722110 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16841081 20100528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1952 CHRM3 is_implicated_in DOID:3770 pulmonary fibrosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18480105 20110617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33046030 20220209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21393552 20220209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20893 BCOR is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27880939 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:0080784 urinary tract infection ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28011398 20211105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_implicated_in DOID:3356 localized osteosarcoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9322869 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3341 EMX2 is_implicated_in DOID:10534 stomach cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23029345 20220811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1910 CHAF1A is_implicated_in DOID:219 colon cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24845563 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11691802 20130820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2719 DDC is_implicated_in DOID:14330 Parkinson's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9853519 20110324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1952 CHRM3 is_implicated_in DOID:365 bladder disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17922784 20110617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_implicated_in DOID:10286 prostate carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17653717 20080109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:0080599 Coronavirus infectious disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17108019 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19414556 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19568425 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19620404 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9429141 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17099022 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9254853 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1370365 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1380943 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1284535 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9439669 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11732487 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1379413 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2344617 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19202204 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1283149 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19633198 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1119 BST2 is_implicated_in DOID:1380 endometrial cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22729361 20190423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1119 BST2 is_implicated_in DOID:1380 endometrial cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26498112 20190423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1771 CDK2 is_implicated_in DOID:4450 renal cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16740772 20080604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:0050855 renal fibrosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21383672 20121106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:5603 T-cell acute lymphoblastic leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17507663 20160622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:5603 T-cell acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8637233 20160622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19684620 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:23814025 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2046 CLDN4 is_implicated_in DOID:2394 ovarian cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19555390 20100412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1602 CCR1 is_implicated_in DOID:3042 allergic contact dermatitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18844696 20120220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:10763 hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24239235 20210608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_implicated_in DOID:5603 T-cell acute lymphoblastic leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26931577 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1974 CHUK is_implicated_in DOID:3571 liver cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27367027 20220809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9437 EIF2AK2 is_implicated_in DOID:2043 hepatitis B ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11861827 20201213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:219 colon cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31932471 20220623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:169 neuroendocrine tumor ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16293970 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_implicated_in DOID:8432 polycythemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11158582 20160325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:14654 prostatitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19700748 20130830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_implicated_in DOID:2870 endometrial adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21900401 20210405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2705 DCN is_implicated_in DOID:3070 high grade glioma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15475879 20090714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_implicated_in DOID:399 tuberculosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18167547 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3595 FAT1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24590895 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:12347 osteogenesis imperfecta ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9448299 20170113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:12347 osteogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23079818 20170113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:12347 osteogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22565191 20170113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:12347 osteogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18755172 20170113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:12347 osteogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21113976 20170113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:12347 osteogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21341209 20170113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_implicated_in DOID:3347 osteosarcoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31571016 20220506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1571 CCKBR is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15688412 20100818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29136504 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:14330 Parkinson's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19727138 20150922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17384678 20210521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18182994 20210521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_implicated_in DOID:8584 Burkitt lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17374736 20220314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:5176 renal Wilms' tumor ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18467665 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16432 AZIN1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24302582 20190813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18030569 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18174243 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1014 BCR is_implicated_in DOID:1240 leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11313935 20160225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26069190 20210501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:1612 breast cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:7053713 20130830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16875543 20130830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23643682 20130830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20638364 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:4989 pancreatitis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16284287 20140328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 is_implicated_in DOID:4926 bronchiolo-alveolar adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:24037716 20221116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19636010 20160805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:22871572 20171205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2745 DDX3X is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31391454 20220209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19276260 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11948474 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:758 ASS1 is_implicated_in DOID:1909 melanoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12359751 20100831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1733 CDK13 is_implicated_in DOID:10286 prostate carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:33390186 20221103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1643 CD22 is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25708834 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1950 CHRM1 is_implicated_in DOID:0050214 Lambert-Eaton myasthenic syndrome ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17764462 20110615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18245558 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1066 BMI1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26919246 20190916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:11527135 20110323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:21929736 20150713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1952 CHRM3 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19281093 20110617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3002 DPEP1 is_implicated_in DOID:687 hepatoblastoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:31541079 20220824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_implicated_in DOID:3234 central nervous system lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28552327 20210325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:0050152 aspiration pneumonia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14990394 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 is_implicated_in DOID:2316 brain ischemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17637706 20071231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2169 CNTF is_implicated_in DOID:12858 Huntington's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9121555 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0000315 mutant phenotype evidence used in manual assertion PMID:16079201 20131230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9512153 20131230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:7148 rheumatoid arthritis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20875116 20170512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23053964 20170512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20847045 20111011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:1520 colon carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:9858521 20211116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:25015118 20231211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18047955 20080110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:30537000 20220429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:1909 melanoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:15009731 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_implicated_in DOID:2841 asthma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17394438 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18204779 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10369259 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16364163 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:3770 pulmonary fibrosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28011398 20211105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:1936 atherosclerosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:7593602 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 is_implicated_in DOID:1793 pancreatic cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:17941720 20160721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:584 APCS is_implicated_in DOID:9120 amyloidosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12015594 20110616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1066 BMI1 is_implicated_in DOID:5176 renal Wilms' tumor ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18467665 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20015205 20120425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:9513 plasma cell leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:20616215 20110915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30858 EFTUD2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:34282556 20230104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26031918 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1103 BRD2 is_implicated_in DOID:707 B-cell lymphoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:14563639 20140929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1963 CHRNB3 is_implicated_in DOID:1596 depressive disorder ECO:0000315 mutant phenotype evidence used in manual assertion PMID:28420875 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:359 AIPL1 is_implicated_in DOID:14791 Leber congenital amaurosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19710705 20140808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:359 AIPL1 is_implicated_in DOID:14791 Leber congenital amaurosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10615133 20140808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:12909127 20070309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29534875 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31632692 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_implicated_in DOID:5844 myocardial infarction ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18462761 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA is_implicated_in DOID:6432 pulmonary hypertension ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18506008 20110221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3341 EMX2 is_implicated_in DOID:9256 colorectal cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:27712600 20220811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:14018 alcoholic liver cirrhosis ECO:0000315 mutant phenotype evidence used in manual assertion PMID:29404441 20190822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_implicated_in DOID:9538 multiple myeloma ECO:0000315 mutant phenotype evidence used in manual assertion PMID:26314844 20160525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:18678431 20091120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16921 AGAP2 is_implicated_in DOID:10283 prostate cancer ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19176382 20190121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:1824 status epilepticus ECO:0000315 mutant phenotype evidence used in manual assertion PMID:19686240 20120104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11204 SOX9 is_implicated_in DOID:3905 lung carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:31221478 20220406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8977 PIK3CD is_implicated_in DOID:1380 endometrial cancer ECO:0000316 genetic interaction evidence used in manual assertion PMID:21478295 20171030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7905 NPHP1 is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0000316 genetic interaction evidence used in manual assertion PMID:24746959 20160929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16806 UBR5 is_implicated_in DOID:1612 breast cancer ECO:0000316 genetic interaction evidence used in manual assertion PMID:28330927 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:21993994 20190725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30685691 20190725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 is_implicated_in DOID:12583 velocardiofacial syndrome ECO:0000316 genetic interaction evidence used in manual assertion PMID:15190012 20221103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 is_implicated_in DOID:12583 velocardiofacial syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_implicated_in DOID:9955 hypoplastic left heart syndrome ECO:0000316 genetic interaction evidence used in manual assertion PMID:27789736 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9380 PRKACA is_implicated_in DOID:5015 fibrolamellar carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:27027723 20220203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:19068093 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12428 TWIST1 is_implicated_in DOID:1612 breast cancer ECO:0000316 genetic interaction evidence used in manual assertion PMID:27524420 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11204 SOX9 is_implicated_in DOID:1324 lung cancer ECO:0000316 genetic interaction evidence used in manual assertion PMID:31221478 20220406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_implicated_in DOID:12253 testicular lymphoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:28868954 20211129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0000316 genetic interaction evidence used in manual assertion PMID:21132270 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4400 GNB3 is_implicated_in DOID:10825 essential hypertension ECO:0000316 genetic interaction evidence used in manual assertion PMID:23691120 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4400 GNB3 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:1682 congenital heart disease ECO:0000316 genetic interaction evidence used in manual assertion PMID:26612412 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33662 MIR665 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:32269632 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28949 IQCB1 is_implicated_in DOID:0110414 retinitis pigmentosa 3 ECO:0000316 genetic interaction evidence used in manual assertion PMID:21857984 20161003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28949 IQCB1 is_implicated_in DOID:0110414 retinitis pigmentosa 3 ECO:0000316 genetic interaction evidence used in manual assertion PMID:22183348 20161003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_implicated_in DOID:1612 breast cancer ECO:0000316 genetic interaction evidence used in manual assertion PMID:27524420 20220405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32880 MIR624 is_implicated_in DOID:3347 osteosarcoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:31829261 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_implicated_in DOID:1324 lung cancer ECO:0000316 genetic interaction evidence used in manual assertion PMID:31221478 20220406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29112 IQSEC1 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:24902879 20220906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:35252 MIR1271 is_implicated_in DOID:2394 ovarian cancer ECO:0000316 genetic interaction evidence used in manual assertion PMID:26477861 20220223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0000316 genetic interaction evidence used in manual assertion PMID:21132270 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30983504 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:10825 essential hypertension ECO:0000316 genetic interaction evidence used in manual assertion PMID:23691120 20230605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:19929244 20220624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:16510607 20220624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26990426 20220624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:635 acquired immunodeficiency syndrome ECO:0000316 genetic interaction evidence used in manual assertion PMID:12134147 20210816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0000316 genetic interaction evidence used in manual assertion PMID:21132270 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30983504 20220419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:5082 liver cirrhosis ECO:0000316 genetic interaction evidence used in manual assertion PMID:29032460 20210816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17445180 20210816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:1682 congenital heart disease ECO:0000316 genetic interaction evidence used in manual assertion PMID:26612412 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1048 BHMT2 is_implicated_in DOID:1682 congenital heart disease ECO:0000316 genetic interaction evidence used in manual assertion PMID:26612412 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0000316 genetic interaction evidence used in manual assertion PMID:23083021 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15909295 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14699430 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17171658 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12960764 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9118321 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15389764 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11431226 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17679637 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_implicated_in DOID:6432 pulmonary hypertension ECO:0000316 genetic interaction evidence used in manual assertion PMID:31462075 20191010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_implicated_in DOID:2043 hepatitis B ECO:0000316 genetic interaction evidence used in manual assertion PMID:19017985 20191021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22576913 20191021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23336202 20191021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 is_implicated_in DOID:4001 ovarian carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:26872615 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26291 BBS10 is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0000316 genetic interaction evidence used in manual assertion PMID:24746959 20160929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1014 BCR is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0000316 genetic interaction evidence used in manual assertion PMID:25133686 20180710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1014 BCR is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1014 BCR is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12067277 20180710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1014 BCR is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3101769 20180710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1014 BCR is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2683759 20180710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1014 BCR is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7683349 20180710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1014 BCR is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1362728 20180710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:10939 antisocial personality disorder ECO:0000316 genetic interaction evidence used in manual assertion PMID:17587443 20170905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_implicated_in DOID:2870 endometrial adenocarcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:11940574 20170921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 is_implicated_in DOID:0110999 Joubert syndrome 4 ECO:0000316 genetic interaction evidence used in manual assertion PMID:17409309 20160930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:10283 prostate cancer ECO:0000316 genetic interaction evidence used in manual assertion PMID:16322291 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 is_implicated_in DOID:3459 breast carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:21499918 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:12995 conduct disorder ECO:0000316 genetic interaction evidence used in manual assertion PMID:17587443 20170905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 is_implicated_in DOID:3429 inclusion body myositis ECO:0000316 genetic interaction evidence used in manual assertion PMID:14972325 20161004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:0050742 nicotine dependence ECO:0000316 genetic interaction evidence used in manual assertion PMID:21747048 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27663783 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29993116 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19706762 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21027 ANKK1 is_implicated_in DOID:1574 alcohol use disorder ECO:0000316 genetic interaction evidence used in manual assertion PMID:32889058 20240112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:21747048 20220304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22722785 20220304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:1574 alcohol use disorder ECO:0000316 genetic interaction evidence used in manual assertion PMID:32889058 20240112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10395222 20240112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0000316 genetic interaction evidence used in manual assertion PMID:21171987 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1383 CA9 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:23910904 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2615 CYP2B6 is_implicated_in DOID:0050742 nicotine dependence ECO:0000316 genetic interaction evidence used in manual assertion PMID:17654295 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2615 CYP2B6 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25489907 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2615 CYP2B6 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17223085 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1371 CA12 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0000316 genetic interaction evidence used in manual assertion PMID:23910904 20220916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR implicated_via_orthology DOID:0080074 neural tube defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7594 MYO15A implicated_via_orthology DOID:1432 blindness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12930 ZBTB16 implicated_via_orthology DOID:1148 polydactyly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8926 PHKA2 implicated_via_orthology DOID:0111042 glycogen storage disease IXa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26724 ANKS6 implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1339 C6 implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF implicated_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3165 S1PR1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A implicated_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10522 ACSM3 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7049 MGAT5 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11762 TFR2 implicated_via_orthology DOID:0111030 hemochromatosis type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1987 CITED2 implicated_via_orthology DOID:3347 osteosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10452 RRM2 implicated_via_orthology DOID:2870 endometrial adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25396 FREM2 implicated_via_orthology DOID:0111407 Fraser syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9491 PRSS8 implicated_via_orthology DOID:987 alopecia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7552 MYBPH implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 implicated_via_orthology DOID:0070117 Meckel syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 implicated_via_orthology DOID:3905 lung carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB implicated_via_orthology DOID:11372 megacolon ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A implicated_via_orthology DOID:0050439 Usher syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2440 CSH1 implicated_via_orthology DOID:0060870 isolated growth hormone deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6218 KCNA1 implicated_via_orthology DOID:0050989 episodic ataxia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6925 MBP implicated_via_orthology DOID:3213 demyelinating disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF implicated_via_orthology DOID:4928 intrahepatic cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14341 EDARADD implicated_via_orthology DOID:14793 hypohidrotic ectodermal dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7660 NCF1 implicated_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10600 SCNN1B implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1985 CIT implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32522 NCF1B implicated_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26724 ANKS6 implicated_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6383 KNG1 implicated_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18084 TRPV3 implicated_via_orthology DOID:987 alopecia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7419 MT-CO1 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 implicated_via_orthology DOID:4448 macular degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13886 ABCG5 implicated_via_orthology DOID:0090019 sitosterolemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3629 FDFT1 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4429 GOLGB1 implicated_via_orthology DOID:2256 osteochondrodysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16902 BCKDK implicated_via_orthology DOID:14228 oligospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4281 GJA8 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26724 ANKS6 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4271 GIPR implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B implicated_via_orthology DOID:0050773 paraganglioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B implicated_via_orthology DOID:893 Wilson disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18005 GIMAP5 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 implicated_via_orthology DOID:3317 hepatic angiomyolipoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1985 CIT implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB implicated_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12592 UROS implicated_via_orthology DOID:13271 cutaneous porphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10471 RUNX1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7672 NCOR1 implicated_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:799 ATP1A1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21307 DSG4 implicated_via_orthology DOID:4535 hypotrichosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4281 GJA8 implicated_via_orthology DOID:0110231 cataract 1 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A implicated_via_orthology DOID:0050868 hepatocellular adenoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6218 KCNA1 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4464 PRLHR implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:0060903 thrombosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7534 MXI1 implicated_via_orthology DOID:3458 breast adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18005 GIMAP5 implicated_via_orthology DOID:614 lymphopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25323 LRP5L implicated_via_orthology DOID:0050770 polycystic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 implicated_via_orthology DOID:9409 diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10676 SDF2L1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4823 HBA1 implicated_via_orthology DOID:1099 alpha thalassemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 implicated_via_orthology DOID:13533 osteopetrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28927 KRT71 implicated_via_orthology DOID:987 alopecia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10908 SLC11A2 implicated_via_orthology DOID:11759 hypochromic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20774 TUBB4A implicated_via_orthology DOID:3213 demyelinating disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17084 SYNE2 implicated_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1393 CACNA1F implicated_via_orthology DOID:0050534 congenital stationary night blindness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 implicated_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 implicated_via_orthology DOID:0050770 polycystic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:583 APC implicated_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12799 WWOX implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11764 TG implicated_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:170 ACTR3 implicated_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12930 ZBTB16 implicated_via_orthology DOID:0080700 caudal regression syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:756 ASPA implicated_via_orthology DOID:3613 Canavan disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14341 EDARADD implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9725 PYGL implicated_via_orthology DOID:2754 glycogen storage disease VI ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17301 PCSK1N implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1477 CAPN10 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B implicated_via_orthology DOID:2697 renal adenoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B implicated_via_orthology DOID:686 liver carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R implicated_via_orthology DOID:3910 lung adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9008 PKD1 implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 implicated_via_orthology DOID:0060870 isolated growth hormone deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18084 TRPV3 implicated_via_orthology DOID:2723 dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7943 NPR1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1786 CDKN1C implicated_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32523 NCF1C implicated_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:714 ARSB implicated_via_orthology DOID:12800 mucopolysaccharidosis VI ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2442 CSHL1 implicated_via_orthology DOID:0060870 isolated growth hormone deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6950 MCM7 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9776 RAB38 implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4277 GJA3 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21569 THEMIS implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1570 CCKAR implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1424 CAD implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:0050868 hepatocellular adenoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3722 FKBP6 implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A implicated_via_orthology DOID:4488 sarcomatoid mesothelioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7534 MXI1 implicated_via_orthology DOID:5041 esophageal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25323 LRP5L implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29616 CNTROB implicated_via_orthology DOID:0112311 male infertility due to acephalic spermatozoa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR implicated_via_orthology DOID:0050632 oculocutaneous albinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9086 PLP1 implicated_via_orthology DOID:3213 demyelinating disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6357 KLK1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29847 NCKAP5 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9401 PRKCE implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2592 CYP11B2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:779 ATCAY implicated_via_orthology DOID:543 dystonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B implicated_via_orthology DOID:1380 endometrial cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1968 LYST implicated_via_orthology DOID:2935 Chediak-Higashi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10599 SCNN1A implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR implicated_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 implicated_via_orthology DOID:2741 bilirubin metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1462 CAMK2D implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B implicated_via_orthology DOID:3829 pituitary adenoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12856 YY1 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1339 C6 implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9399 PRKCD implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27310 FLCN implicated_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11764 TG implicated_via_orthology DOID:0060870 isolated growth hormone deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B implicated_via_orthology DOID:3125 multiple endocrine neoplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9725 PYGL implicated_via_orthology DOID:3650 lactic acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23663 VKORC1 implicated_via_orthology DOID:0080666 warfarin sensitivity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4266 GHRHR implicated_via_orthology DOID:0060870 isolated growth hormone deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:2228 thrombocytosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2441 CSH2 implicated_via_orthology DOID:0060870 isolated growth hormone deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4281 GJA8 implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4080 GABRA6 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9445 PRL implicated_via_orthology DOID:5394 prolactinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8931 PHKG2 implicated_via_orthology DOID:2747 glycogen storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9016 PKHD1 implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 implicated_via_orthology DOID:1227 neutropenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 implicated_via_orthology DOID:3347 osteosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25380 TMEM163 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 implicated_via_orthology DOID:1573 communicating hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3546 F8 implicated_via_orthology DOID:12134 factor VIII deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B implicated_via_orthology DOID:0050771 pheochromocytoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21307 DSG4 implicated_via_orthology DOID:987 alopecia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5381 IDE implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A implicated_via_orthology DOID:1825 childhood absence epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A implicated_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 implicated_via_orthology DOID:12387 nephrogenic diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7027 MERTK implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2394 CRYBA1 implicated_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9155 PNLIP implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:2870 endometrial adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1570 CCKAR implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF implicated_via_orthology DOID:5381 bile duct adenoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1985 CIT implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB implicated_via_orthology DOID:614 lymphopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13785 MRS2 implicated_via_orthology DOID:3213 demyelinating disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13387 NEK8 implicated_via_orthology DOID:0111120 nephronophthisis 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9673 PTPRJ implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23799 DND1 implicated_via_orthology DOID:3305 teratocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19191 DOCK8 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1542 CBLB implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC implicated_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6116 IRF1 implicated_via_orthology DOID:2870 endometrial adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16902 BCKDK implicated_via_orthology DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A implicated_via_orthology DOID:1380 endometrial cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9776 RAB38 implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 implicated_via_orthology DOID:3482 plague ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4824 HBA2 implicated_via_orthology DOID:1099 alpha thalassemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 implicated_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9776 RAB38 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12605 CLRN1 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B implicated_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 implicated_via_orthology DOID:234 colon adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9086 PLP1 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13610 KDM2B implicated_via_orthology DOID:0081312 T-cell non-Hodgkin lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:894 AVP implicated_via_orthology DOID:9409 diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B implicated_via_orthology DOID:2237 hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:894 AVP implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG implicated_via_orthology DOID:0080122 Alpers-Huttenlocher syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6469 KYNU implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4262 GH2 implicated_via_orthology DOID:0060870 isolated growth hormone deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13740 SNTG1 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11184 SORD implicated_via_orthology DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:242 ADCYAP1R1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23198 CYP4V2 implicated_via_orthology DOID:0050664 Bietti crystalline corneoretinal dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17859 NUP188 implicated_via_orthology DOID:0081272 Sandestig-Stefanova syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6299 KCNQ5 implicated_via_orthology DOID:0112202 developmental and epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10061 RNF2 implicated_via_orthology DOID:0070416 Luo-Schoch-Yamamoto syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:0080719 congenital myopathy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6876 MAPK14 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:837 ATP5F1D implicated_via_orthology DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1485 CAPN8 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8571 PACSIN2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4464 PRLHR implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11581 TBCD implicated_via_orthology DOID:0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 implicated_via_orthology DOID:2531 hematologic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16812 COQ8A implicated_via_orthology DOID:0070241 primary coenzyme Q10 deficiency 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11996 TOR2A implicated_via_orthology DOID:0060730 torsion dystonia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3684 FGF6 implicated_via_orthology DOID:0080425 developmental and epileptic encephalopathy 47 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18271 ENAH implicated_via_orthology DOID:680 tauopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1479 CAPN2 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2717 DDB1 implicated_via_orthology DOID:0050427 xeroderma pigmentosum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10600 SCNN1B implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:969 BBS4 implicated_via_orthology DOID:1935 Bardet-Biedl syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4324 GLP1R implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:163 ACTN1 implicated_via_orthology DOID:0111128 focal segmental glomerulosclerosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:930 B4GALT7 implicated_via_orthology DOID:13359 Ehlers-Danlos syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:0080719 congenital myopathy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28962 SPCS2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 implicated_via_orthology DOID:14323 Marfan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13741 SNTG2 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3667 FGF11 implicated_via_orthology DOID:0080425 developmental and epileptic encephalopathy 47 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6862 MAP4 implicated_via_orthology DOID:680 tauopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8570 PACSIN1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13561 HIVEP3 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8572 PACSIN3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN implicated_via_orthology DOID:0060369 Parkinson's disease 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19088 ASH1L implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:166 ACTN4 implicated_via_orthology DOID:0111128 focal segmental glomerulosclerosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3666 FGF10 implicated_via_orthology DOID:0080425 developmental and epileptic encephalopathy 47 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1393 CACNA1F implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17097 EXOSC2 implicated_via_orthology DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:43618 FADS2B implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16059 PAK4 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:43618 FADS2B implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28107 PPCDC implicated_via_orthology DOID:0110734 neurodegeneration with brain iron accumulation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23576 HOOK3 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20422 POLR1D implicated_via_orthology DOID:0080790 Treacher Collins syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3092 DYRK1B implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7717 NDUFV2 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21498 ATG16L1 implicated_via_orthology DOID:0110885 inflammatory bowel disease 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 implicated_via_orthology DOID:0080001 bone disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6387 KLC1 implicated_via_orthology DOID:0080348 Alzheimer's disease 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12520 UFD1 implicated_via_orthology DOID:12583 velocardiofacial syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18725 LEMD1 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3685 FGF7 implicated_via_orthology DOID:0080425 developmental and epileptic encephalopathy 47 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3663 FGD1 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1742 LRBA implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30242 TUSC3 implicated_via_orthology DOID:104 bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21157 GTF2H5 implicated_via_orthology DOID:0111866 trichothiodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17468 PDLIM5 implicated_via_orthology DOID:0080095 myofibrillar myopathy 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13517 CLIC5 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10484 RYR2 implicated_via_orthology DOID:3529 congenital myopathy 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28495 ZNF683 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21624 KLC4 implicated_via_orthology DOID:0080348 Alzheimer's disease 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 implicated_via_orthology DOID:2531 hematologic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5959 ELP1 implicated_via_orthology DOID:11589 Riley-Day syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11098 SMARCA2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11854 TSPAN7 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3098 TOR1A implicated_via_orthology DOID:0060730 torsion dystonia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8744 PCSK2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18673 CDK5RAP3 implicated_via_orthology DOID:0050709 early infantile epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3041 RCAN2 implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11047 SLC6A14 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7146 TRPM1 implicated_via_orthology DOID:0060246 MASA syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3057 DTNA implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23198 CYP4V2 implicated_via_orthology DOID:0050664 Bietti crystalline corneoretinal dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:0080719 congenital myopathy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33714 FITM1 implicated_via_orthology DOID:0081273 Siddiqi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21062 FARS2 implicated_via_orthology DOID:0112202 developmental and epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8571 PACSIN2 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 implicated_via_orthology DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10601 SCNN1D implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2064 CLIC3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 implicated_via_orthology DOID:0060193 amyotrophic lateral sclerosis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A implicated_via_orthology DOID:1838 Menkes disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11503 SYNJ1 implicated_via_orthology DOID:0060894 early-onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13518 CLIC4 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25223 COQ2 implicated_via_orthology DOID:0070238 primary coenzyme Q10 deficiency 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4571 GRIA1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16352 MRM2 implicated_via_orthology DOID:0070448 mitochondrial DNA depletion syndrome 17 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11854 TSPAN7 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14958 PUM2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14432 TMEM237 implicated_via_orthology DOID:0050777 Joubert syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15527 KLB implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20774 TUBB4A implicated_via_orthology DOID:14452 hypokalemic periodic paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26941 UFC1 implicated_via_orthology DOID:0070421 neurodevelopmental disorder with spasticity and poor growth ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM implicated_via_orthology DOID:12704 ataxia telangiectasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14310 BRD7 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14491 MRPL40 implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:0110425 dilated cardiomyopathy 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:680 tauopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21396 ABHD5 implicated_via_orthology DOID:0050729 Chanarin-Dorfman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6401 TNPO1 implicated_via_orthology DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19041 COQ8B implicated_via_orthology DOID:0070241 primary coenzyme Q10 deficiency 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:664 ARG2 implicated_via_orthology DOID:9278 hyperargininemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3094 DYRK3 implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10484 RYR2 implicated_via_orthology DOID:8545 malignant hyperthermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6063 ING2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:277 ADRA1A implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19884 HOOK1 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:220 ADAMTS4 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14073 ATP1A4 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4581 GRIK3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12563 UMPS implicated_via_orthology DOID:0050833 orotic aciduria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14587 ING3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4573 GRIA3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25640 UFSP2 implicated_via_orthology DOID:0050709 early infantile epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17994 TRPM7 implicated_via_orthology DOID:0060246 MASA syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10891 SIX5 implicated_via_orthology DOID:11722 myotonic dystrophy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16873 FIG4 implicated_via_orthology DOID:0110184 Charcot-Marie-Tooth disease type 4J ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4920 HIVEP1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3575 FADS2 implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11100 SMARCA4 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9313 PPP2R5E implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1069 BMP2 implicated_via_orthology DOID:14323 Marfan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29187 SETD1B implicated_via_orthology DOID:0070417 neurodevelopmental disorder with speech impairment and dysmorphic facies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:244 ADD2 implicated_via_orthology DOID:0081361 spastic quadriplegic cerebral palsy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7450 MTMR2 implicated_via_orthology DOID:0111225 centronuclear myopathy X-linked ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:85 ACACB implicated_via_orthology DOID:0080000 muscular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19044 FER1L5 implicated_via_orthology DOID:11724 limb-girdle muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17427 DPF3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19998 TNPO2 implicated_via_orthology DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:0080719 congenital myopathy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17468 PDLIM5 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:0080719 congenital myopathy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17074 SARM1 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1486 CAPN9 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1424 CAD implicated_via_orthology DOID:0050833 orotic aciduria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8653 PCCA implicated_via_orthology DOID:14701 propionic acidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16817 ESS2 implicated_via_orthology DOID:12583 velocardiofacial syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10934 SLC18A1 implicated_via_orthology DOID:670 amphetamine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15825 HIF3A implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29175 WDTC1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5212 HSD17B3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 implicated_via_orthology DOID:0081361 spastic quadriplegic cerebral palsy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24124 ACTL6A implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3576 FADS3 implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7694 NDUFAB1 implicated_via_orthology DOID:0110734 neurodegeneration with brain iron accumulation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7631 NAGA implicated_via_orthology DOID:14499 Fabry disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8022 NT5C2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3097 DYSF implicated_via_orthology DOID:11724 limb-girdle muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3576 FADS3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3575 FADS2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15583 LCTL implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4572 GRIA2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8124 OGDH implicated_via_orthology DOID:0081326 oxoglutarate dehydrogenase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:855 ATP6V0C implicated_via_orthology DOID:0070472 early-onset epilepsy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6162 ITGB7 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8515 OTOF implicated_via_orthology DOID:11724 limb-girdle muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18037 ARID2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7448 MTM1 implicated_via_orthology DOID:0111225 centronuclear myopathy X-linked ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11076 NHERF2 implicated_via_orthology DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14957 PUM1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4216 GDF11 implicated_via_orthology DOID:0070418 vertebral hypersegmentation and orofacial anomalies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15472 ALDH1A2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D implicated_via_orthology DOID:0080598 Kleefstra syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29168 RPGRIP1L implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6161 ITGB6 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25660 TTC21B implicated_via_orthology DOID:12712 nephronophthisis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM implicated_via_orthology DOID:0070280 primary autosomal recessive microcephaly 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 implicated_via_orthology DOID:65 connective tissue disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10600 SCNN1B implicated_via_orthology DOID:14452 hypokalemic periodic paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4816 HARS1 implicated_via_orthology DOID:0050857 Perrault syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19104 NPHP4 implicated_via_orthology DOID:0050778 Meckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16825 MTMR8 implicated_via_orthology DOID:14717 centronuclear myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21111 BICRAL implicated_via_orthology DOID:1925 Coffin-Siris syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9354 PRDX3 implicated_via_orthology DOID:0070413 autosomal recessive spinocerebellar ataxia 32 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14449 OPN4 implicated_via_orthology DOID:0110372 retinitis pigmentosa 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2063 CLIC2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11997 TOR3A implicated_via_orthology DOID:0060730 torsion dystonia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9547 PSMC1 implicated_via_orthology DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10599 SCNN1A implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4223 MSTN implicated_via_orthology DOID:0070418 vertebral hypersegmentation and orofacial anomalies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10061 RNF2 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13249 CAPN12 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 implicated_via_orthology DOID:1441 autosomal dominant cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16475 HSDL1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16718 DHX33 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:165 ACTN3 implicated_via_orthology DOID:0111128 focal segmental glomerulosclerosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4330 GLRX implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:280 ADRA1D implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8091 OAT implicated_via_orthology DOID:9252 amino acid metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 implicated_via_orthology DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10485 RYR3 implicated_via_orthology DOID:3529 congenital myopathy 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14198 ELAC2 implicated_via_orthology DOID:0111496 combined oxidative phosphorylation deficiency 17 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11133 SNAP29 implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20716 KLC2 implicated_via_orthology DOID:0080348 Alzheimer's disease 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17178 ADAMTS20 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1073 BMP6 implicated_via_orthology DOID:14323 Marfan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11509 SYT1 implicated_via_orthology DOID:0110659 congenital myasthenic syndrome 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19958 PRORP implicated_via_orthology DOID:0070427 combined oxidative phosphorylation deficiency 54 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11504 SYNJ2 implicated_via_orthology DOID:0060894 early-onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28018 NIPAL4 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18867 KCNU1 implicated_via_orthology DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11357 STAM implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS implicated_via_orthology DOID:0060198 amyotrophic lateral sclerosis type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13202 ADAMTS9 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7857 NMT1 implicated_via_orthology DOID:0080000 muscular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4817 HARS2 implicated_via_orthology DOID:0050857 Perrault syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2065 CLIC6 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11513 SYT5 implicated_via_orthology DOID:0110659 congenital myasthenic syndrome 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4241 GFPT1 implicated_via_orthology DOID:1440 Machado-Joseph disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18155 TXNRD2 implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3681 FGF3 implicated_via_orthology DOID:0080425 developmental and epileptic encephalopathy 47 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20234 EVL implicated_via_orthology DOID:680 tauopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5275 KAT5 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10555 ATXN2 implicated_via_orthology DOID:1441 autosomal dominant cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8582 PAH implicated_via_orthology DOID:9281 phenylketonuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25464 ATG16L2 implicated_via_orthology DOID:0110885 inflammatory bowel disease 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12713 VPS41 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7858 NMT2 implicated_via_orthology DOID:0080000 muscular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3579 FAH implicated_via_orthology DOID:0050726 tyrosinemia type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19264 SYT8 implicated_via_orthology DOID:0110659 congenital myasthenic syndrome 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15710 LDB3 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28636 B9D2 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9325 PPT1 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:800 ATP1A2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22958 PDLIM7 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17044 NIPA2 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6251 KCNH2 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10890 SIX4 implicated_via_orthology DOID:11722 myotonic dystrophy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9059 PLCB4 implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16732 MCEE implicated_via_orthology DOID:14749 methylmalonic acidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 implicated_via_orthology DOID:9278 hyperargininemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12816 XPC implicated_via_orthology DOID:0050427 xeroderma pigmentosum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4162 GARS1 implicated_via_orthology DOID:0110164 Charcot-Marie-Tooth disease type 2D ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17340 PRPF8 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6857 MAP3K5 implicated_via_orthology DOID:670 amphetamine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17367 IFT57 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26001 SLC66A1 implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 implicated_via_orthology DOID:0050458 juvenile myelomonocytic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1486 CAPN9 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7883 NOTCH3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1391 CACNA1D implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11995 TOR1B implicated_via_orthology DOID:0060730 torsion dystonia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11818 TIMM8B implicated_via_orthology DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14596 MTMR9 implicated_via_orthology DOID:14717 centronuclear myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2062 CLIC1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6181 ITPR2 implicated_via_orthology DOID:1441 autosomal dominant cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11277 SPTLC1 implicated_via_orthology DOID:0070152 hereditary sensory and autonomic neuropathy type 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12652 VASP implicated_via_orthology DOID:680 tauopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10700 SEC22B implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6062 ING1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11075 NHERF1 implicated_via_orthology DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8124 OGDH implicated_via_orthology DOID:0070468 Yoon-Bellen neurodevelopmental syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6284 KCNMA1 implicated_via_orthology DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7908 NPHS1 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2205 CERT1 implicated_via_orthology DOID:0070064 autosomal dominant intellectual developmental disorder 34 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3042 RCAN3 implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4460 GPM6A implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15469 DNAJC6 implicated_via_orthology DOID:0060891 Parkinson's disease 19A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27194 NIPAL1 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19885 HOOK2 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1485 CAPN8 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4579 GRIK1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 implicated_via_orthology DOID:3529 congenital myopathy 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23595 VPS13D implicated_via_orthology DOID:0111611 autosomal recessive spinocerebellar ataxia 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 implicated_via_orthology DOID:0112038 non-syndromic X-linked intellectual disability 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:672 RHOG implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7648 NBEA implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11104 SMARCC1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17992 TRPM3 implicated_via_orthology DOID:0060246 MASA syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11404 STK25 implicated_via_orthology DOID:0060669 cerebral cavernous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10603 SCO1 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10602 SCNN1G implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28636 B9D2 implicated_via_orthology DOID:0050777 Joubert syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20154 ABHD4 implicated_via_orthology DOID:0050729 Chanarin-Dorfman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:801 ATP1A3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:966 BBS1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 implicated_via_orthology DOID:0080001 bone disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28732 C1QTNF9 implicated_via_orthology DOID:37 skin disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18794 FBN3 implicated_via_orthology DOID:65 connective tissue disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:0080719 congenital myopathy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16061 PAK6 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16688 YIF1A implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP implicated_via_orthology DOID:0060201 amyotrophic lateral sclerosis type 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4458 GPI implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3672 FGF16 implicated_via_orthology DOID:0080425 developmental and epileptic encephalopathy 47 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11118 SMN2 implicated_via_orthology DOID:12377 spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:2531 hematologic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16712 FBXW7 implicated_via_orthology DOID:0070420 developmental delay, hypotonia, and impaired language ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4461 GPM6B implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:52276 BUB1B-PAK6 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11510 SYT2 implicated_via_orthology DOID:0110659 congenital myasthenic syndrome 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:0080719 congenital myopathy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6296 KCNQ2 implicated_via_orthology DOID:0112202 developmental and epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10606 SCP2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3682 FGF4 implicated_via_orthology DOID:0080425 developmental and epileptic encephalopathy 47 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11445 STXBP2 implicated_via_orthology DOID:0112202 developmental and epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8570 PACSIN1 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4916 HIRA implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19125 FGD4 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3679 FGF22 implicated_via_orthology DOID:0080425 developmental and epileptic encephalopathy 47 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A implicated_via_orthology DOID:0110477 autosomal recessive nonsyndromic deafness 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7526 MMUT implicated_via_orthology DOID:14749 methylmalonic acidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17468 PDLIM5 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18989 ADGRF3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37234 TMEM231 implicated_via_orthology DOID:0050778 Meckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3604 FBN2 implicated_via_orthology DOID:65 connective tissue disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1530 MICU1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:402 ALDH1A1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4271 GIPR implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9802 RAC2 implicated_via_orthology DOID:0080235 autosomal dominant intellectual developmental disorder 48 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B implicated_via_orthology DOID:1838 Menkes disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9676 PTPRN implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1478 CAPN11 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4389 GNAO1 implicated_via_orthology DOID:0080450 developmental and epileptic encephalopathy 17 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9086 PLP1 implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 implicated_via_orthology DOID:0060369 Parkinson's disease 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3062 DUOX1 implicated_via_orthology DOID:9281 phenylketonuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16835 TAOK2 implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21863 RBM28 implicated_via_orthology DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18608 LRRK1 implicated_via_orthology DOID:0060371 Parkinson's disease 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN implicated_via_orthology DOID:0060368 Parkinson's disease 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30511 YIF1B implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 implicated_via_orthology DOID:2842 Jervell-Lange Nielsen syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10992 SLC25A6 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9803 RAC3 implicated_via_orthology DOID:0080235 autosomal dominant intellectual developmental disorder 48 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20233 COQ6 implicated_via_orthology DOID:0070243 primary coenzyme Q10 deficiency 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11117 SMN1 implicated_via_orthology DOID:12377 spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3508 EWSR1 implicated_via_orthology DOID:0060198 amyotrophic lateral sclerosis type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 implicated_via_orthology DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8983 PI4KA implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6297 KCNQ3 implicated_via_orthology DOID:0112202 developmental and epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23230 UBA5 implicated_via_orthology DOID:0111615 autosomal recessive spinocerebellar ataxia 24 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1160 TWNK implicated_via_orthology DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:224 ADAMTS8 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3670 FGF13 implicated_via_orthology DOID:0080425 developmental and epileptic encephalopathy 47 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18017 NUP160 implicated_via_orthology DOID:0080394 nephrotic syndrome type 19 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2074 CLN3 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12440 TYK2 implicated_via_orthology DOID:2531 hematologic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9677 PTPRN2 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2512 CTNNAL1 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11806 TIAM2 implicated_via_orthology DOID:0070444 neurodevelopmental disorder with language delay and seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15916 PAK5 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1052 BIN1 implicated_via_orthology DOID:0111220 centronuclear myopathy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28214 FRMD5 implicated_via_orthology DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2074 CLN3 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 implicated_via_orthology DOID:0110425 dilated cardiomyopathy 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27310 FLCN implicated_via_orthology DOID:0050676 Birt-Hogg-Dube syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18738 RHOBTB1 implicated_via_orthology DOID:0070375 developmental and epileptic encephalopathy 64 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26022 TRMT10C implicated_via_orthology DOID:0111471 combined oxidative phosphorylation deficiency 30 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2961 DYNC1H1 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9309 PPP2R5A implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33577 PI4KAP2 implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21728 IRF2BP1 implicated_via_orthology DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14347 BCAS3 implicated_via_orthology DOID:0070408 Hengel-Maroofian-Schols syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1739 CDC45 implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7716 NDUFV1 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18041 BMP2K implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7716 NDUFV1 implicated_via_orthology DOID:0060536 mitochondrial complex I deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10601 SCNN1D implicated_via_orthology DOID:14452 hypokalemic periodic paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:799 ATP1A1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3664 FGD2 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14282 IRF2BPL implicated_via_orthology DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3585 FANCD2 implicated_via_orthology DOID:0111083 Fanconi anemia complementation group D2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8850 PEX1 implicated_via_orthology DOID:0081274 peroxisome biogenesis disorder 14B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30185 CRBN implicated_via_orthology DOID:0060308 autosomal recessive intellectual developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2697 DBP implicated_via_orthology DOID:9952 acute lymphoblastic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23326 PXK implicated_via_orthology DOID:2835 polycythemia due to hypoxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19069 GBA3 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3665 FGF1 implicated_via_orthology DOID:0080425 developmental and epileptic encephalopathy 47 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18133 TAOK3 implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26033 PUS7 implicated_via_orthology DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28880 MAGT1 implicated_via_orthology DOID:104 bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7453 MTMR6 implicated_via_orthology DOID:14717 centronuclear myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX implicated_via_orthology DOID:0050776 non-syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6182 ITPR3 implicated_via_orthology DOID:1441 autosomal dominant cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4242 GFPT2 implicated_via_orthology DOID:1440 Machado-Joseph disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9310 PPP2R5B implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26935 RTCB implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10485 RYR3 implicated_via_orthology DOID:8545 malignant hyperthermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4800 HSD17B10 implicated_via_orthology DOID:0060810 syndromic X-linked intellectual disability type 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3436 ERCC4 implicated_via_orthology DOID:13636 Fanconi anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11444 STXBP1 implicated_via_orthology DOID:0112202 developmental and epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11547 TAF15 implicated_via_orthology DOID:0060198 amyotrophic lateral sclerosis type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6858 MAP3K6 implicated_via_orthology DOID:670 amphetamine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11403 STK24 implicated_via_orthology DOID:0060669 cerebral cavernous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:278 ADRA1B implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:471 AMPH implicated_via_orthology DOID:0111220 centronuclear myopathy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4574 GRIA4 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19966 UNC79 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19331 MMAB implicated_via_orthology DOID:14749 methylmalonic acidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13254 FTSJ1 implicated_via_orthology DOID:0112034 non-syndromic X-linked intellectual disability 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 implicated_via_orthology DOID:14323 Marfan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:93 ACAT1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9330 PQBP1 implicated_via_orthology DOID:0060179 Renpenning syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1479 CAPN2 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:407 ALDH1B1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19679 AAK1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31326 ATXN2L implicated_via_orthology DOID:1441 autosomal dominant cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20087 TTC8 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28958 NUP93 implicated_via_orthology DOID:0080387 nephrotic syndrome type 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15710 LDB3 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8127 OGT implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15905 L3MBTL1 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12694 VIPR1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3040 RCAN1 implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18608 LRRK1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1476 CAPN1 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13436 RPGRIP1 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10935 SLC18A2 implicated_via_orthology DOID:670 amphetamine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9658 PTPN6 implicated_via_orthology DOID:0050458 juvenile myelomonocytic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18756 RHOBTB2 implicated_via_orthology DOID:0070375 developmental and epileptic encephalopathy 64 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29259 TAOK1 implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 implicated_via_orthology DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4580 GRIK2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:0080719 congenital myopathy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28958 NUP93 implicated_via_orthology DOID:0080387 nephrotic syndrome type 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13254 FTSJ1 implicated_via_orthology DOID:0112034 non-syndromic X-linked intellectual disability 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25999 MTMR10 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2063 CLIC2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6160 ITGB5 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10991 SLC25A5 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4977 HLF implicated_via_orthology DOID:9952 acute lymphoblastic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12695 VIPR2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11817 TIMM8A implicated_via_orthology DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6530 LCT implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1478 CAPN11 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:245 ADD3 implicated_via_orthology DOID:0081361 spastic quadriplegic cerebral palsy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 implicated_via_orthology DOID:0080001 bone disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27678 NT5DC4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 implicated_via_orthology DOID:0110042 Alzheimer's disease 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6093 INSRR implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:61 ABCD1 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1476 CAPN1 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 implicated_via_orthology DOID:0110629 Wolfram syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15559 CHCHD10 implicated_via_orthology DOID:0080504 Parkinson's disease 22 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10602 SCNN1G implicated_via_orthology DOID:14452 hypokalemic periodic paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20778 TUBB implicated_via_orthology DOID:14452 hypokalemic periodic paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11805 TIAM1 implicated_via_orthology DOID:0070444 neurodevelopmental disorder with language delay and seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24307 MTMR11 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8572 PACSIN3 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25590 OGDHL implicated_via_orthology DOID:0070468 Yoon-Bellen neurodevelopmental syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 implicated_via_orthology DOID:8545 malignant hyperthermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21186 ATAT1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:164 ACTN2 implicated_via_orthology DOID:0111128 focal segmental glomerulosclerosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11280 SQSTM1 implicated_via_orthology DOID:0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 implicated_via_orthology DOID:0080001 bone disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25590 OGDHL implicated_via_orthology DOID:0081326 oxoglutarate dehydrogenase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25094 MTSS2 implicated_via_orthology DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9768 RAB28 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2700 DCLK1 implicated_via_orthology DOID:4428 dyslexia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4113 GAK implicated_via_orthology DOID:0060891 Parkinson's disease 19A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6153 ITGB1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2065 CLIC6 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20717 KLC3 implicated_via_orthology DOID:0080348 Alzheimer's disease 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1480 CAPN3 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1397 CACNA1S implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7449 MTMR1 implicated_via_orthology DOID:0111225 centronuclear myopathy X-linked ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3436 ERCC4 implicated_via_orthology DOID:2962 Cockayne syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17752 TSPAN3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8045 NUDC implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16135 FITM2 implicated_via_orthology DOID:0081273 Siddiqi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21729 IRF2BP2 implicated_via_orthology DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20043 GEMIN5 implicated_via_orthology DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29170 FAN1 implicated_via_orthology DOID:13636 Fanconi anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:34072 C1QTNF9B implicated_via_orthology DOID:37 skin disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7454 MTMR7 implicated_via_orthology DOID:14717 centronuclear myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30000 BBS9 implicated_via_orthology DOID:1935 Bardet-Biedl syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18862 KCNH6 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15710 LDB3 implicated_via_orthology DOID:0080095 myofibrillar myopathy 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25552 RNF220 implicated_via_orthology DOID:0070397 hypomyelinating leukodystrophy 23 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4803 HADHB implicated_via_orthology DOID:0111277 mitochondrial trifunctional protein deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1480 CAPN3 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3954 FRG1 implicated_via_orthology DOID:11727 facioscapulohumeral muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1053 BIN2 implicated_via_orthology DOID:0111220 centronuclear myopathy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3439 ERCC8 implicated_via_orthology DOID:2962 Cockayne syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18191 MTMR12 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24824 FZR1 implicated_via_orthology DOID:0070378 developmental and epileptic encephalopathy 109 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24125 FRMD3 implicated_via_orthology DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6873 MAPK11 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16027 FGD3 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6298 KCNQ4 implicated_via_orthology DOID:0112202 developmental and epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18028 OSGEP implicated_via_orthology DOID:0080245 Galloway-Mowat syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6551 LEF1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12513 UCHL1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30761 TTC21A implicated_via_orthology DOID:12712 nephronophthisis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4921 HIVEP2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL implicated_via_orthology DOID:4467 clear cell renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11018 SLC32A1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18646 HSD17B12 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:34071 OTOL1 implicated_via_orthology DOID:37 skin disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 implicated_via_orthology DOID:0110425 dilated cardiomyopathy 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10604 SCO2 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3093 DYRK2 implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6093 INSRR implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9509 PSEN2 implicated_via_orthology DOID:0110042 Alzheimer's disease 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31689 MAP3K15 implicated_via_orthology DOID:670 amphetamine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22958 PDLIM7 implicated_via_orthology DOID:0080095 myofibrillar myopathy 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11233 SPAST implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10018 RING1 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:160 ACTL6B implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23035 L3MBTL3 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13998 PRDM13 implicated_via_orthology DOID:0070439 North Carolina macular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11105 SMARCC2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24123 B9D1 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 implicated_via_orthology DOID:0050776 non-syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21197 FA2H implicated_via_orthology DOID:0110786 hereditary spastic paraplegia 35 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15801 FER1L4 implicated_via_orthology DOID:11724 limb-girdle muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12515 UCHL3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1390 CACNA1C implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15781 CHRFAM7A implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20225 DPF1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6514 LATS1 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11640 TCF7L1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10891 SIX5 implicated_via_orthology DOID:14702 branchiootorenal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26558 HYLS1 implicated_via_orthology DOID:0050779 hydrolethalus syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28065 FER1L6 implicated_via_orthology DOID:11724 limb-girdle muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6515 LATS2 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23676 CHCHD2P9 implicated_via_orthology DOID:0080504 Parkinson's disease 22 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13273 DUOX2 implicated_via_orthology DOID:9281 phenylketonuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:0080719 congenital myopathy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25818 BRD9 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13249 CAPN12 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7708 NDUFS2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19002 DCLK2 implicated_via_orthology DOID:4428 dyslexia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10410 RPS23 implicated_via_orthology DOID:0070415 brachycephaly, trichomegaly, and developmental delay ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3058 DTNB implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10890 SIX4 implicated_via_orthology DOID:14702 branchiootorenal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11051 SLC6A5 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14980 SNX16 implicated_via_orthology DOID:2835 polycythemia due to hypoxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20443 MTSS1 implicated_via_orthology DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18863 KCNH7 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3656 MYOF implicated_via_orthology DOID:11724 limb-girdle muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:84 ACACA implicated_via_orthology DOID:0080000 muscular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20771 TUBB4B implicated_via_orthology DOID:14452 hypokalemic periodic paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX implicated_via_orthology DOID:0112038 non-syndromic X-linked intellectual disability 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11358 STAM2 implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3668 FGF12 implicated_via_orthology DOID:0080425 developmental and epileptic encephalopathy 47 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17752 TSPAN3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3683 FGF5 implicated_via_orthology DOID:0080425 developmental and epileptic encephalopathy 47 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7121 MKS1 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:66 ABCD2 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21645 CHCHD2 implicated_via_orthology DOID:0080504 Parkinson's disease 22 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4266 GHRHR implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11427 STUB1 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29010 SETD1A implicated_via_orthology DOID:0070417 neurodevelopmental disorder with speech impairment and dysmorphic facies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22958 PDLIM7 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17043 NIPA1 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C implicated_via_orthology DOID:0080598 Kleefstra syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:0080719 congenital myopathy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9964 DPF2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4296 GLA implicated_via_orthology DOID:14499 Fabry disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 implicated_via_orthology DOID:0080235 autosomal dominant intellectual developmental disorder 48 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 implicated_via_orthology DOID:0060370 Parkinson's disease 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18174 STK26 implicated_via_orthology DOID:0060669 cerebral cavernous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26677 L3MBTL4 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18250 PHF10 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9325 PPT1 implicated_via_orthology DOID:0110721 neuronal ceroid lipofuscinosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20606 IFT88 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10018 RING1 implicated_via_orthology DOID:0070416 Luo-Schoch-Yamamoto syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11639 TCF7 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11722 TEF implicated_via_orthology DOID:9952 acute lymphoblastic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4464 PRLHR implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13518 CLIC4 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25146 SLC66A1LP implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4037 FYN implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:0110454 dilated cardiomyopathy 1S ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3574 FADS1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21667 ORAI2 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11334 SSTR5 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6063 ING2 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:2106 myotonia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19069 GBA3 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17948 YBX2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18039 KDM5B implicated_via_orthology DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1963 CHRNB3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11497 SYNGAP1 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:0111605 distal arthrogryposis type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30802 PNPLA2 implicated_via_orthology DOID:0050729 Chanarin-Dorfman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5107 HOXA6 implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24239 TMCC2 implicated_via_orthology DOID:0050667 alcohol-related neurodevelopmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29905 CSDE1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1573 KRIT1 implicated_via_orthology DOID:0060669 cerebral cavernous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16038 ORMDL3 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10944 SLC1A6 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10447 RRAS implicated_via_orthology DOID:0080690 RASopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15963 CHRNA6 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1478 CAPN11 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21228 BTBD9 implicated_via_orthology DOID:0050425 restless legs syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10910 SLC12A1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6997 MEF2D implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11123 SMS implicated_via_orthology DOID:0060802 syndromic X-linked intellectual disability Snyder type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10597 SCN9A implicated_via_orthology DOID:0111294 generalized epilepsy with febrile seizures plus 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 implicated_via_orthology DOID:612 primary immunodeficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3436 ERCC4 implicated_via_orthology DOID:0050427 xeroderma pigmentosum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23022 ZNF280B implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25257 TMEM18 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18816 KIRREL2 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21906 CHCHD3 implicated_via_orthology DOID:9955 hypoplastic left heart syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17948 YBX2 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12791 WRN implicated_via_orthology DOID:5688 Werner syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:970 BBS5 implicated_via_orthology DOID:1935 Bardet-Biedl syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5291 HTR1E implicated_via_orthology DOID:14320 generalized anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2961 DYNC1H1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16769 GORASP1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10582 SCN10A implicated_via_orthology DOID:0111294 generalized epilepsy with febrile seizures plus 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12767 NSD3 implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11231 ATL1 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25223 COQ2 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9811 RAD21 implicated_via_orthology DOID:0080508 Cornelia de Lange syndrome 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 implicated_via_orthology DOID:2962 Cockayne syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10992 SLC25A6 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28185 ORAI3 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19412 ZMYND10 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2279 COX6A2 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5033 HNRNPA2B1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30272 RAB6D implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2538 CTSV implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2389 CRYAB implicated_via_orthology DOID:0080093 myofibrillar myopathy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:3429 inclusion body myositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:3429 inclusion body myositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 implicated_via_orthology DOID:13636 Fanconi anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11950 TNNT3 implicated_via_orthology DOID:3191 nemaline myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15461 MANF implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11960 GIGYF2 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4291 GK2 implicated_via_orthology DOID:0060363 glycerol kinase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11098 SMARCA2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33714 FITM1 implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2935 DMRT2 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 implicated_via_orthology DOID:14323 Marfan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:0110454 dilated cardiomyopathy 1S ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23230 UBA5 implicated_via_orthology DOID:0050709 early infantile epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12638 UTY implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10807 SGCD implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11444 STXBP1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16232 COX4I2 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1389 CACNA1B implicated_via_orthology DOID:6364 migraine ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1776 CDK5R2 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12566 UNC13B implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:49205 KIF28P implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13164 CNBP implicated_via_orthology DOID:0050759 myotonic dystrophy type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11106 SMARCD1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10603 SCO1 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:174 ACVR2B implicated_via_orthology DOID:0050787 juvenile polyposis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:620 APP implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9404 PRKCI implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9658 PTPN6 implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11192 SOX13 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11331 SSTR2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14291 NLGN1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21717 CCZ1B implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2516 CTNND2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1738 CDC42BPB implicated_via_orthology DOID:0060669 cerebral cavernous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4817 HARS2 implicated_via_orthology DOID:2491 sensory peripheral neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6224 KCNA5 implicated_via_orthology DOID:0050989 episodic ataxia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:0111596 distal arthrogryposis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6867 MAP4K5 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10436 RPS6KB1 implicated_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12766 NSD2 implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1392 CACNA1E implicated_via_orthology DOID:6364 migraine ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14942 PPP1R3B implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29866 NFASC implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1462 CAMK2D implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17283 RIMS2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16385 NSUN5 implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6279 KCNK4 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3098 TOR1A implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22224 KDM7A implicated_via_orthology DOID:0060309 syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8574 PAFAH1B1 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20233 COQ6 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 implicated_via_orthology DOID:2962 Cockayne syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21042 NUS1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:708 ARPC5 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21667 ORAI2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12841 YES1 implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1390 CACNA1C implicated_via_orthology DOID:0060173 Timothy syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18035 EML2 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10697 SEC13 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3821 FOXO3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16421 SOX6 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8155 OPRL1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24796 KANK3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25133 MARS2 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19104 NPHP4 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1958 CHRNA4 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12841 YES1 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21034 NDUFAF4 implicated_via_orthology DOID:0112077 nuclear type mitochondrial complex I deficiency 15 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8638 KAT2B implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30832 TRAPPC9 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28625 NDUFAF6 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8876 PFKL implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20347 VIPAS39 implicated_via_orthology DOID:0050763 ARC syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3092 DYRK1B implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4014 FUT3 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16271 RAD21L1 implicated_via_orthology DOID:0080508 Cornelia de Lange syndrome 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10916 SLC13A1 implicated_via_orthology DOID:0111668 Kohlschutter-Tonz syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4402 GNG10 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7877 CNOT1 implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6995 MEF2B implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24036 APC2 implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16262 YAP1 implicated_via_orthology DOID:2394 ovarian cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16027 FGD3 implicated_via_orthology DOID:6683 X-linked Aarskog syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7867 NOP2 implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9893 RBL1 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21645 CHCHD2 implicated_via_orthology DOID:0081356 spinal muscular atrophy, Jokela type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24941 HNRNPA3 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12841 YES1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7682 NDST3 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4562 GRAP implicated_via_orthology DOID:0111642 autosomal recessive nonsyndromic deafness 114 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15998 NAV3 implicated_via_orthology DOID:0070338 cerebellar hypoplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8806 PDHA1 implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3756 FLNC implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1393 CACNA1F implicated_via_orthology DOID:0060173 Timothy syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7549 MYBPC1 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4081 GABRB1 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30892 HUWE1 implicated_via_orthology DOID:0060309 syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 implicated_via_orthology DOID:3191 nemaline myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7994 NRCAM implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7880 CNOT4 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:3429 inclusion body myositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4814 KALRN implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20604 DIS3 implicated_via_orthology DOID:9538 multiple myeloma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11408 STK4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6514 LATS1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9784 RAB5B implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB implicated_via_orthology DOID:0110317 hypertrophic cardiomyopathy 11 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17328 DTNBP1 implicated_via_orthology DOID:896 metal metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 implicated_via_orthology DOID:809 cocaine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11104 SMARCC1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16135 FITM2 implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6524 LCK implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26401 MARVELD2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10602 SCNN1G implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23197 SEC31B implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14290 NLGN2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11513 SYT5 implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4430 GOSR1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5026 HNF4G implicated_via_orthology DOID:1062 Fanconi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14234 NSD1 implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15559 CHCHD10 implicated_via_orthology DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15527 KLB implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4696 GUSB implicated_via_orthology DOID:12803 Sly syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14295 SHANK2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14287 NLGN4X implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6282 KCNK7 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11240 SPHK1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6766 MADD implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 implicated_via_orthology DOID:299 adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7551 MYBPC3 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3663 FGD1 implicated_via_orthology DOID:6683 X-linked Aarskog syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8065 NUP50 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2207 COL4A5 implicated_via_orthology DOID:854 collagen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7897 NPC1 implicated_via_orthology DOID:14504 Niemann-Pick disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6093 INSRR implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12428 TWIST1 implicated_via_orthology DOID:14768 Saethre-Chotzen syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 implicated_via_orthology DOID:0050692 Brody myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4082 GABRB2 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23303 TSPAN14 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20421 LNX2 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:11720 distal myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28119 VPS26B implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16287 NFU1 implicated_via_orthology DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15512 VANGL1 implicated_via_orthology DOID:0080074 neural tube defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8951 SERPINE2 implicated_via_orthology DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33715 TOGARAM2 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11406 STK3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25701 CHD9 implicated_via_orthology DOID:0050834 CHARGE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 implicated_via_orthology DOID:3911 progeria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11094 SNAI2 implicated_via_orthology DOID:3620 central nervous system cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9886 KDM5A implicated_via_orthology DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5115 HOXB4 implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17002 PIAS4 implicated_via_orthology DOID:2531 hematologic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3664 FGD2 implicated_via_orthology DOID:0110192 Charcot-Marie-Tooth disease type 4H ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10583 SCN11A implicated_via_orthology DOID:0111294 generalized epilepsy with febrile seizures plus 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9024 PKP2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30242 TUSC3 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9206 PON3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19125 FGD4 implicated_via_orthology DOID:0110192 Charcot-Marie-Tooth disease type 4H ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14201 JPH1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26161 CORO7 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1530 MICU1 implicated_via_orthology DOID:0111335 myopathy with extrapyramidal signs ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17620 NDEL1 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:118 ACO2 implicated_via_orthology DOID:0050883 infantile cerebellar-retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12406 TUB implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9104 PLXNB2 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1774 CDK5 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30771 ELOA2 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3571 ACSL4 implicated_via_orthology DOID:0112050 non-syndromic X-linked intellectual disability 63 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1618 CCT5 implicated_via_orthology DOID:2491 sensory peripheral neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16364 NKX2-8 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3521 EYA3 implicated_via_orthology DOID:14702 branchiootorenal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3697 FGR implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3383 STOM implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5138 HOXD4 implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1961 CHRNB1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29300 KANK2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15529 NLGN4Y implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11118 SMN2 implicated_via_orthology DOID:12377 spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2712 DCTN2 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7716 NDUFV1 implicated_via_orthology DOID:0060536 mitochondrial complex I deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19663 GNG12 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11634 TCF4 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3062 DUOX1 implicated_via_orthology DOID:0050338 primary bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23366 ARPC5L implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:2106 myotonia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16861 PIAS3 implicated_via_orthology DOID:2531 hematologic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8621 PAX7 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11503 SYNJ1 implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:0110454 dilated cardiomyopathy 1S ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19903 RRAGD implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10911 SLC12A2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8617 PAX3 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17619 NDE1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9586 PTCH2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6126 IRS2 implicated_via_orthology DOID:10914 amnestic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14544 WNK4 implicated_via_orthology DOID:4479 pseudohypoaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9549 PSMC3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14604 AMN implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14307 LRRC1 implicated_via_orthology DOID:0060072 benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14101 CNOT7 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13487 VPS35 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4411 GNGT1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9565 PSMD7 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4289 GK implicated_via_orthology DOID:0060363 glycerol kinase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8060 NUMB implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7056 OGA implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R implicated_via_orthology DOID:535 sleep disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19264 SYT8 implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8918 PHEX implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:668 RHOB implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7132 KMT2A implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29634 MEGF10 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7898 NPC1L1 implicated_via_orthology DOID:14504 Niemann-Pick disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12333 TRPC1 implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 implicated_via_orthology DOID:0050557 congenital muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:174 ACVR2B implicated_via_orthology DOID:14323 Marfan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9565 PSMD7 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3287 EIF4E implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18133 TAOK3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11997 TOR3A implicated_via_orthology DOID:543 dystonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11393 AURKA implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20156 JPH4 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3115 E2F3 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6277 KCNK2 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14129 EHMT2 implicated_via_orthology DOID:0060352 Kleefstra syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:11720 distal myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12520 UFD1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11104 SMARCC1 implicated_via_orthology DOID:1925 Coffin-Siris syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 implicated_via_orthology DOID:299 adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1497 CASK implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2495 CTBP2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2202 COL4A1 implicated_via_orthology DOID:854 collagen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1963 CHRNB3 implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3508 EWSR1 implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29829 CDC42BPG implicated_via_orthology DOID:0060669 cerebral cavernous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5294 HTR2B implicated_via_orthology DOID:14320 generalized anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA implicated_via_orthology DOID:0080096 myofibrillar myopathy 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10305 RPL14 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6273 KCNK10 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15583 LCTL implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3664 FGD2 implicated_via_orthology DOID:6683 X-linked Aarskog syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10991 SLC25A5 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9377 PRKAA2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15750 DSTN implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:0111269 autosomal dominant hyaline body myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14543 WNK3 implicated_via_orthology DOID:4479 pseudohypoaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2277 COX6A1 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19006 HIPK1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15840 KMT2B implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25553 GNL3L implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 implicated_via_orthology DOID:10914 amnestic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11108 SMARCD3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1478 CAPN11 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2192 COL15A1 implicated_via_orthology DOID:699 mitochondrial myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11948 TNNT1 implicated_via_orthology DOID:3191 nemaline myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7566 MYF6 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3114 E2F2 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25907 CEP89 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1073 BMP6 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6126 IRS2 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29829 CDC42BPG implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A implicated_via_orthology DOID:14320 generalized anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:843 ATP5MC3 implicated_via_orthology DOID:0070445 early-onset dystonia and/or spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20907 EAF1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17638 MEIS3P2 implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17620 NDEL1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11598 TBX20 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29537 MEIS3 implicated_via_orthology DOID:0050425 restless legs syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26388 ARHGAP36 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14860 UBXN4 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6143 ITGA7 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19205 STIM2 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11155 SNRPB2 implicated_via_orthology DOID:2994 germ cell cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25471 WIPI1 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11105 SMARCC2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1424 CAD implicated_via_orthology DOID:9280 carbamoyl phosphate synthetase I deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8153 OPRD1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG implicated_via_orthology DOID:0080122 Alpers-Huttenlocher syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1160 TWNK implicated_via_orthology DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:443 ALS2 implicated_via_orthology DOID:0060194 amyotrophic lateral sclerosis type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9677 PTPRN2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17325 PRODH2 implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7745 NEK2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14289 NLGN3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11333 SSTR4 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17969 GABRR3 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1615 CCT2 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20947 TOMM20 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29116 TMCC1 implicated_via_orthology DOID:0050667 alcohol-related neurodevelopmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:813 ATP2A3 implicated_via_orthology DOID:0050692 Brody myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:841 ATP5MC1 implicated_via_orthology DOID:0070445 early-onset dystonia and/or spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 implicated_via_orthology DOID:0050557 congenital muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26899 TMTC3 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:0050557 congenital muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6997 MEF2D implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31795 NCBP2L implicated_via_orthology DOID:0060419 chromosome 3q29 microdeletion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14464 KCNK16 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2195 COL18A1 implicated_via_orthology DOID:699 mitochondrial myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28648 DIS3L2 implicated_via_orthology DOID:0060476 Perlman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11100 SMARCA4 implicated_via_orthology DOID:0050340 opportunistic bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6865 MAP4K3 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21244 LEMD2 implicated_via_orthology DOID:0110243 cataract 46 juvenile-onset ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2711 DCTN1 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11547 TAF15 implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15963 CHRNA6 implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27263 KANK4 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10372 RPLP1 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11332 SSTR3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5031 HNRNPA1 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6226 KCNA7 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9906 RBFOX2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1966 CHRNE implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4634 GSTM2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8522 OTX2 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6142 ITGA6 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10437 RPS6KB2 implicated_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A implicated_via_orthology DOID:0050524 maturity-onset diabetes of the young ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:0111605 distal arthrogryposis type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11582 TBCE implicated_via_orthology DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4037 FYN implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18177 GIPC2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4803 HADHB implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14202 JPH2 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10590 SCN3A implicated_via_orthology DOID:0111294 generalized epilepsy with febrile seizures plus 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29331 EPG5 implicated_via_orthology DOID:0060356 Vici syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7976 NR2F2 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6913 MAX implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:842 ATP5MC2 implicated_via_orthology DOID:0070445 early-onset dystonia and/or spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2204 COL4A3 implicated_via_orthology DOID:854 collagen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2719 DDC implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7611 MYOD1 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6904 MAT2A implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6865 MAP4K3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6226 KCNA7 implicated_via_orthology DOID:0050989 episodic ataxia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1589 CCNE1 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20422 POLR1D implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27067 HNRNPA1L2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21645 CHCHD2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20672 PHF8 implicated_via_orthology DOID:0060309 syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6142 ITGA6 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET implicated_via_orthology DOID:0050430 multiple endocrine neoplasia type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3955 FRK implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11633 TCF3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9408 PRKD3 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10992 SLC25A6 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30135 P4HA3 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7835 NKX2-2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19439 KCNK18 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30269 RAB3C implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:553 AOX1 implicated_via_orthology DOID:0060236 xanthinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1076 BMPR1A implicated_via_orthology DOID:0050787 juvenile polyposis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2135 SBF2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30688 CAND1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2206 COL4A4 implicated_via_orthology DOID:854 collagen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14430 SLC13A3 implicated_via_orthology DOID:0111668 Kohlschutter-Tonz syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:2106 myotonia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17397 BANF1 implicated_via_orthology DOID:0081334 Nestor-Guillermo progeria syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5192 HES1 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12496 UBE3A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1480 CAPN3 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3098 TOR1A implicated_via_orthology DOID:543 dystonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6993 MEF2A implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11106 SMARCD1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17858 GPSM1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25907 CEP89 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24650 EHMT1 implicated_via_orthology DOID:934 viral infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21194 DOP1A implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16746 MBNL2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:66 ABCD2 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24113 ATP13A3 implicated_via_orthology DOID:0060556 Kufor-Rakeb syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1967 CHRNG implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14294 SHANK3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11220 SPARCL1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:697 ARL6IP1 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:659 ARF6 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 implicated_via_orthology DOID:612 primary immunodeficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:2106 myotonia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31007 ELOA3BP implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24587 HYCC1 implicated_via_orthology DOID:0060793 hypomyelinating leukodystrophy 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7139 FOXO4 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29918 NDUFAF3 implicated_via_orthology DOID:0112070 nuclear type mitochondrial complex I deficiency 18 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20685 PROM2 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1479 CAPN2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7883 NOTCH3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18867 KCNU1 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29914 NUP107 implicated_via_orthology DOID:0080498 ovarian dysgenesis 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6657 LNX1 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14124 NPRL3 implicated_via_orthology DOID:2234 focal epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:0110454 dilated cardiomyopathy 1S ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16639 SRRM2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14544 WNK4 implicated_via_orthology DOID:4479 pseudohypoaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:0110454 dilated cardiomyopathy 1S ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17018 SEC23IP implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10920 SLC15A1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16183 RIMS4 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2897 DLC1 implicated_via_orthology DOID:14447 gonadal dysgenesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1622 CCT7 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1915 CHD1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17145 SNAPIN implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1939 CHL1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6221 KCNA3 implicated_via_orthology DOID:0050989 episodic ataxia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10912 SLC12A3 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14540 WNK1 implicated_via_orthology DOID:4479 pseudohypoaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13210 ARL6 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21168 RHOT1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29866 NFASC implicated_via_orthology DOID:0060246 MASA syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1485 CAPN8 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6863 MAP4K1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11128 SNAI1 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14291 NLGN1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26511 HSPB6 implicated_via_orthology DOID:0080093 myofibrillar myopathy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14465 KCNK17 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10426 RPS5 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:493 ANK2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3493 ETV4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16253 SPTLC3 implicated_via_orthology DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8045 NUDC implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29012 KDM6B implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4084 GABRD implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11389 STK11 implicated_via_orthology DOID:3852 Peutz-Jeghers syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1556 CBX6 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10991 SLC25A5 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2890 DKC1 implicated_via_orthology DOID:2729 dyskeratosis congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29536 MAPKBP1 implicated_via_orthology DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10064 TRIM3 implicated_via_orthology DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11071 SLC9A1 implicated_via_orthology DOID:585 nephrolithiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6219 KCNA10 implicated_via_orthology DOID:0050989 episodic ataxia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:2106 myotonia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 implicated_via_orthology DOID:7474 malignant pleural mesothelioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8977 PIK3CD implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11078 SLC9A5 implicated_via_orthology DOID:585 nephrolithiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7095 MID1 implicated_via_orthology DOID:0080697 Opitz GBBB syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11201 SOX5 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11623 TCF12 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 implicated_via_orthology DOID:0050669 spastic cerebral palsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20670 TWIST2 implicated_via_orthology DOID:14768 Saethre-Chotzen syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13233 ANP32A implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12635 UTRN implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10921 SLC15A2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9023 PKP1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16609 NSUN5P2 implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11277 SPTLC1 implicated_via_orthology DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21396 ABHD5 implicated_via_orthology DOID:0050729 Chanarin-Dorfman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17753 TSPAN5 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19166 TBC1D5 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4018 FUT7 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3955 FRK implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1590 CCNE2 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9803 RAC3 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12515 UCHL3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19164 STARD13 implicated_via_orthology DOID:14447 gonadal dysgenesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23089 SLC13A5 implicated_via_orthology DOID:0111668 Kohlschutter-Tonz syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20509 ZC3H14 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17084 SYNE2 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6923 MBNL1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:752 GET3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12841 YES1 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31406 WDR37 implicated_via_orthology DOID:0111675 neurooculocardiogenitourinary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:0111605 distal arthrogryposis type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6297 KCNQ3 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9777 RAB3A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29635 MEGF11 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7930 NPM2 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19041 COQ8B implicated_via_orthology DOID:0050730 coenzyme Q10 deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14064 HDAC6 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17340 PRPF8 implicated_via_orthology DOID:0110403 retinitis pigmentosa 13 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2019 CLCN1 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4292 GK3 implicated_via_orthology DOID:0060363 glycerol kinase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11509 SYT1 implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1463 CAMK2G implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9107 PLXND1 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10061 RNF2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:0111269 autosomal dominant hyaline body myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:799 ATP1A1 implicated_via_orthology DOID:0060178 familial hemiplegic migraine ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19841 TBPL2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4857 HDLBP implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9293 PPP1R3C implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23676 CHCHD2P9 implicated_via_orthology DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15511 VANGL2 implicated_via_orthology DOID:0080074 neural tube defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26164 NAA16 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11744 TFAP2C implicated_via_orthology DOID:535 sleep disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14203 JPH3 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9126 GIGYF1 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:535 sleep disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6842 MAP2K2 implicated_via_orthology DOID:0080690 RASopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23204 KIRREL3 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1775 CDK5R1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11118 SMN2 implicated_via_orthology DOID:0050530 intermediate spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18867 KCNU1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19092 PSD2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6993 MEF2A implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12423 TULP1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2974 DNM2 implicated_via_orthology DOID:854 collagen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3519 EYA1 implicated_via_orthology DOID:5614 eye disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL implicated_via_orthology DOID:14175 von Hippel-Lindau disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8016 NSF implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10817 SGPL1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28486 MFSD8 implicated_via_orthology DOID:0110722 neuronal ceroid lipofuscinosis 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6909 MATN3 implicated_via_orthology DOID:14323 Marfan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9281 PPP1CA implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6225 KCNA6 implicated_via_orthology DOID:0050989 episodic ataxia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10542 SBF1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4091 GABRR2 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3522 EYA4 implicated_via_orthology DOID:5614 eye disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15734 KIRREL1 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:0080690 RASopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16675 ANP32CP implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:0111605 distal arthrogryposis type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12337 TRPC5 implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7975 NR2F1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8850 PEX1 implicated_via_orthology DOID:905 Zellweger syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3955 FRK implicated_via_orthology DOID:2907 Goldenhar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28887 LEMD3 implicated_via_orthology DOID:0110243 cataract 46 juvenile-onset ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3821 FOXO3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5289 HTR1D implicated_via_orthology DOID:14320 generalized anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24047 ATL2 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6280 KCNK5 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:3429 inclusion body myositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:811 ATP2A1 implicated_via_orthology DOID:0050692 Brody myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24123 B9D1 implicated_via_orthology DOID:12712 nephronophthisis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:0111605 distal arthrogryposis type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6298 KCNQ4 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14540 WNK1 implicated_via_orthology DOID:4479 pseudohypoaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3521 EYA3 implicated_via_orthology DOID:5614 eye disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1955 CHRNA1 implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11445 STXBP2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30257 PYGO2 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12648 VAPA implicated_via_orthology DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10591 SCN4A implicated_via_orthology DOID:0111294 generalized epilepsy with febrile seizures plus 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4016 FUT5 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9387 PRKAG3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12711 VPS26A implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 implicated_via_orthology DOID:0080690 RASopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17842 GGA1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:598 APLP2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16288 TRIM9 implicated_via_orthology DOID:0080697 Opitz GBBB syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26099 ARHGAP10 implicated_via_orthology DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1075 BMP8B implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1962 CHRNB2 implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24042 WWTR1 implicated_via_orthology DOID:2394 ovarian cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9055 PLCB2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12425 TULP3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16873 FIG4 implicated_via_orthology DOID:0060202 amyotrophic lateral sclerosis type 11 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17063 RAB3GAP1 implicated_via_orthology DOID:0060237 Warburg micro syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23676 CHCHD2P9 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3767 FLT4 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30764 TRAIP implicated_via_orthology DOID:0070005 Seckel syndrome 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9779 RAB3D implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9679 PTPRQ implicated_via_orthology DOID:934 viral infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6903 MAT1A implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25686 PPCS implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8816 PDPK1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1503 CASP2 implicated_via_orthology DOID:2998 testicular cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13594 TSPAN17 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15581 TFAP2D implicated_via_orthology DOID:535 sleep disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11100 SMARCA4 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3697 FGR implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 implicated_via_orthology DOID:3911 progeria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16235 DNAJC5 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:11720 distal myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16421 SOX6 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14129 EHMT2 implicated_via_orthology DOID:934 viral infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12303 TRIO implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17311 PIAS2 implicated_via_orthology DOID:2531 hematologic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26545 ARHGAP42 implicated_via_orthology DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5105 HOXA4 implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15474 SHANK1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6493 LAMC2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24888 PNPLA5 implicated_via_orthology DOID:0050729 Chanarin-Dorfman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14449 OPN4 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18608 LRRK1 implicated_via_orthology DOID:0060892 late onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25896 ORAI1 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3767 FLT4 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11117 SMN1 implicated_via_orthology DOID:0050530 intermediate spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:0111596 distal arthrogryposis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6322 KIF4B implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24969 NPRL2 implicated_via_orthology DOID:2234 focal epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4015 FUT4 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6093 INSRR implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6284 KCNMA1 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14668 MMEL1 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:11720 distal myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8855 PEX13 implicated_via_orthology DOID:0080485 peroxisome biogenesis disorder 11A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4901 HHEX implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20696 ELP3 implicated_via_orthology DOID:11589 Riley-Day syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5031 HNRNPA1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11278 SPTLC2 implicated_via_orthology DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17079 GGA3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11077 SLC9A4 implicated_via_orthology DOID:585 nephrolithiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15989 NAV1 implicated_via_orthology DOID:0070338 cerebellar hypoplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10599 SCNN1A implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:0111596 distal arthrogryposis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3120 E2F6 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11105 SMARCC2 implicated_via_orthology DOID:1925 Coffin-Siris syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:3429 inclusion body myositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11598 TBX20 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30213 ATP13A2 implicated_via_orthology DOID:0060556 Kufor-Rakeb syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14073 ATP1A4 implicated_via_orthology DOID:0060178 familial hemiplegic migraine ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19743 POMT2 implicated_via_orthology DOID:0112374 muscular dystrophy-dystroglycanopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:0111605 distal arthrogryposis type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11201 SOX5 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20564 MBNL3 implicated_via_orthology DOID:450 myotonic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6867 MAP4K5 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9713 PEX19 implicated_via_orthology DOID:0080486 peroxisome biogenesis disorder 12A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14604 AMN implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18250 PHF10 implicated_via_orthology DOID:1925 Coffin-Siris syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18801 POGZ implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24173 ATXN3L implicated_via_orthology DOID:1440 Machado-Joseph disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2388 CRYAA implicated_via_orthology DOID:0080093 myofibrillar myopathy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6128 IRS4 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7000 MEIS1 implicated_via_orthology DOID:0050425 restless legs syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20779 NDST4 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4840 HCK implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20151 SLC17A8 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6299 KCNQ5 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14075 SGCZ implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6735 LYN implicated_via_orthology DOID:2907 Goldenhar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24138 DNAJC5B implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20153 CHD8 implicated_via_orthology DOID:0050834 CHARGE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1069 BMP2 implicated_via_orthology DOID:0050787 juvenile polyposis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1072 BMP5 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12648 VAPA implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16937 ARL6IP5 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19902 RRAGC implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12566 UNC13B implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6139 ITGA3 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1686 CD53 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8521 OTX1 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21641 TSPAN12 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20152 ZFHX2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5213 HSD17B4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6144 ITGA8 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16525 RAB6C implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:0111596 distal arthrogryposis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3512 EXT1 implicated_via_orthology DOID:206 hereditary multiple exostoses ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9026 PKP4 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12011 TPM2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20957 SDHAF4 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7883 NOTCH3 implicated_via_orthology DOID:299 adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A implicated_via_orthology DOID:0111294 generalized epilepsy with febrile seizures plus 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:669 RHOC implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11183 SON implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4024 FXR2 implicated_via_orthology DOID:7474 malignant pleural mesothelioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:61 ABCD1 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9893 RBL1 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33525 FTH1P19 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14289 NLGN3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4410 GNG7 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9498 PSAP implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11995 TOR1B implicated_via_orthology DOID:543 dystonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25114 BOD1 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6139 ITGA3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15866 MRGBP implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1391 CACNA1D implicated_via_orthology DOID:0060173 Timothy syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10600 SCNN1B implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A implicated_via_orthology DOID:0111294 generalized epilepsy with febrile seizures plus 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18234 MOCOS implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1049 BICD1 implicated_via_orthology DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:0111596 distal arthrogryposis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:11870 Pick's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C implicated_via_orthology DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16469 ACAP2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18502 TBL1Y implicated_via_orthology DOID:0050155 sensory system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4588 GRIN2D implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31817 RPS26P11 implicated_via_orthology DOID:1339 Diamond-Blackfan anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1736 CDC42 implicated_via_orthology DOID:0060669 cerebral cavernous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20748 FANCL implicated_via_orthology DOID:13636 Fanconi anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13221 BCL11A implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6997 MEF2D implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24617 ELOA3P implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3494 ETV5 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11107 SMARCD2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2279 COX6A2 implicated_via_orthology DOID:890 mitochondrial encephalomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13345 LPIN1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4530 NPBWR2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11948 TNNT1 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4083 GABRB3 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16974 SRCAP implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10979 SLC25A1 implicated_via_orthology DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 implicated_via_orthology DOID:0050340 opportunistic bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4407 GNG4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19146 NSUN5P1 implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9785 RAB5C implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3518 EXTL3 implicated_via_orthology DOID:206 hereditary multiple exostoses ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11588 TBP implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13222 BCL11B implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9761 RAB11B implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:2106 myotonia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14465 KCNK17 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11094 SNAI2 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21292 RIMS3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23109 FAT4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7001 MEIS2 implicated_via_orthology DOID:0050425 restless legs syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10414 RPS26 implicated_via_orthology DOID:1339 Diamond-Blackfan anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6296 KCNQ2 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28122 VPS25 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1237 UBQLN4 implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16280 TRIM36 implicated_via_orthology DOID:0080697 Opitz GBBB syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:0110454 dilated cardiomyopathy 1S ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2515 CTNND1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37234 TMEM231 implicated_via_orthology DOID:4501 orofaciodigital syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:2106 myotonia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23594 VPS13C implicated_via_orthology DOID:0050766 choreaacanthocytosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24768 PNPLA7 implicated_via_orthology DOID:0050753 cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6864 MAP4K2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10524 SALL1 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25651 WDR33 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:819 ATP4A implicated_via_orthology DOID:0060178 familial hemiplegic migraine ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10604 SCO2 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24913 CDNF implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29931 GNL3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12766 NSD2 implicated_via_orthology DOID:0112103 Sotos syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11598 TBX20 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12441 TYMS implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 implicated_via_orthology DOID:0050778 Meckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53439 GNG14 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12649 VAPB implicated_via_orthology DOID:231 motor neuron disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7715 NDUFS8 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14248 MED15 implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3697 FGR implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10807 SGCD implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:48 ABCB7 implicated_via_orthology DOID:0050554 X-linked sideroblastic anemia with ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16731 FBXO32 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10941 SLC1A3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11634 TCF4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29942 TSPAN10 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6735 LYN implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24279 SLC25A39 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6128 IRS4 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7804 NFYA implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10588 SCN2A implicated_via_orthology DOID:0111294 generalized epilepsy with febrile seizures plus 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17904 DROSHA implicated_via_orthology DOID:936 brain disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9385 PRKAG1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:55 ABCC4 implicated_via_orthology DOID:1485 cystic fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9786 RAB6A implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17514 HOMER3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1087 BOK implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29536 MAPKBP1 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 implicated_via_orthology DOID:0050729 Chanarin-Dorfman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30377 SCRIB implicated_via_orthology DOID:0060072 benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:39979 BORCS8-MEF2B implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2348 CREBBP implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3526 EZH1 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3330 EML1 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16027 FGD3 implicated_via_orthology DOID:0110192 Charcot-Marie-Tooth disease type 4H ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10420 RPS3 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19439 KCNK18 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9894 RBL2 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8945 SERPINI2 implicated_via_orthology DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1460 CAMK2A implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7121 MKS1 implicated_via_orthology DOID:0050778 Meckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8920 PHF2 implicated_via_orthology DOID:0060309 syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6218 KCNA1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6141 ITGA5 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11406 STK3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3520 EYA2 implicated_via_orthology DOID:5614 eye disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6159 EIF6 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1057 BLK implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9670 PTPRF implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24650 EHMT1 implicated_via_orthology DOID:0060352 Kleefstra syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11115 KDM5D implicated_via_orthology DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7708 NDUFS2 implicated_via_orthology DOID:0060536 mitochondrial complex I deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18183 GIPC3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11108 SMARCD3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6324 KIF5B implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:493 ANK2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7139 FOXO4 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4020 FUT9 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18411 SNAI3 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19007 HIPK4 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20661 SLC25A26 implicated_via_orthology DOID:0111470 combined oxidative phosphorylation deficiency 28 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4412 GNGT2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:2106 myotonia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11947 TNNI3 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10942 SLC1A4 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13709 DEGS1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9760 RAB11A implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7897 NPC1 implicated_via_orthology DOID:14504 Niemann-Pick disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:0111605 distal arthrogryposis type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:11720 distal myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30301 SEC16B implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15971 TSG101 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9012 PKD2L2 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:232 ADCY1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7994 NRCAM implicated_via_orthology DOID:0060246 MASA syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:493 ANK2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17271 RRAS2 implicated_via_orthology DOID:0080690 RASopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29125 DNM3 implicated_via_orthology DOID:854 collagen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6299 KCNQ5 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29567 ACSBG1 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:728 ARVCF implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:173 ACVR2A implicated_via_orthology DOID:14323 Marfan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5026 HNF4G implicated_via_orthology DOID:0050524 maturity-onset diabetes of the young ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10809 SGCG implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12508 UBQLN1 implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33131 PSAPL1 implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:3429 inclusion body myositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12335 TRPC3 implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16037 ORMDL2 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6224 KCNA5 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8008 NRXN1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4292 GK3 implicated_via_orthology DOID:0060363 glycerol kinase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7000 MEIS1 implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1939 CHL1 implicated_via_orthology DOID:0060246 MASA syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8943 SERPINI1 implicated_via_orthology DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:3429 inclusion body myositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6284 KCNMA1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9325 PPT1 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13596 FBXO25 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:597 APLP1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29678 MSTO1 implicated_via_orthology DOID:2106 myotonia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6126 IRS2 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5213 HSD17B4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9894 RBL2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18654 RTTN implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4803 HADHB implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10329 RPL27A implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13202 ADAMTS9 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16268 PNPLA6 implicated_via_orthology DOID:0050753 cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19096 PSD4 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13222 BCL11B implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6923 MBNL1 implicated_via_orthology DOID:450 myotonic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4840 HCK implicated_via_orthology DOID:2907 Goldenhar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31749 ZCCHC13 implicated_via_orthology DOID:0050759 myotonic dystrophy type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6515 LATS2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1622 CCT7 implicated_via_orthology DOID:2491 sensory peripheral neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 implicated_via_orthology DOID:0050787 juvenile polyposis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28911 PRAF2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:406 ALDH4A1 implicated_via_orthology DOID:0080543 hyperprolinemia type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 implicated_via_orthology DOID:0050669 spastic cerebral palsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23150 UNC13A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN implicated_via_orthology DOID:0050340 opportunistic bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11945 TNNI1 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19104 NPHP4 implicated_via_orthology DOID:12712 nephronophthisis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13358 MCOLN3 implicated_via_orthology DOID:0080490 mucolipidosis type IV ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4017 FUT6 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14287 NLGN4X implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4840 HCK implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33179 EIF4E1B implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16005 HES2 implicated_via_orthology DOID:3620 central nervous system cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14075 SGCZ implicated_via_orthology DOID:0110436 dilated cardiomyopathy 1L ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7201 MOV10L1 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3819 FOXO1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12648 VAPA implicated_via_orthology DOID:231 motor neuron disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:0080690 RASopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15917 PLCB1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14287 NLGN4X implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9011 PKD2L1 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53757 CRYZL2P-SEC16B implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9507 PSD implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1057 BLK implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10807 SGCD implicated_via_orthology DOID:0110436 dilated cardiomyopathy 1L ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31792 BOD1L1 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1461 CAMK2B implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17340 PRPF8 implicated_via_orthology DOID:0110403 retinitis pigmentosa 13 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24149 HES4 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11073 SLC9A3 implicated_via_orthology DOID:585 nephrolithiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1775 CDK5R1 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:427 ALK implicated_via_orthology DOID:769 neuroblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM implicated_via_orthology DOID:0060246 MASA syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1939 CHL1 implicated_via_orthology DOID:0060246 MASA syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9772 RAB32 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP implicated_via_orthology DOID:0060201 amyotrophic lateral sclerosis type 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10884 GEMIN2 implicated_via_orthology DOID:12377 spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1956 CHRNA2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6843 MAP2K3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 implicated_via_orthology DOID:13515 tuberous sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9778 RAB3B implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:0111269 autosomal dominant hyaline body myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 implicated_via_orthology DOID:0080324 tuberous sclerosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9779 RAB3D implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11098 SMARCA2 implicated_via_orthology DOID:0050340 opportunistic bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7910 NPM1 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11510 SYT2 implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2711 DCTN1 implicated_via_orthology DOID:0060486 Perry syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:0110454 dilated cardiomyopathy 1S ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27455 RCOR2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31859 TRIM67 implicated_via_orthology DOID:0080697 Opitz GBBB syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7015 MEP1A implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10979 SLC25A1 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1621 CCT6B implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24814 FOXO6 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10018 RING1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13221 BCL11A implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2027 CLCNKB implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25594 RCOR3 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8898 PGK2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 implicated_via_orthology DOID:0060894 early-onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4289 GK implicated_via_orthology DOID:0060363 glycerol kinase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23115 EAF2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6721 LTK implicated_via_orthology DOID:769 neuroblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7534 MXI1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4291 GK2 implicated_via_orthology DOID:0060363 glycerol kinase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6629 LLGL2 implicated_via_orthology DOID:263 kidney cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6524 LCK implicated_via_orthology DOID:2907 Goldenhar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6220 KCNA2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12649 VAPB implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11620 ELOA implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:842 ATP5MC2 implicated_via_orthology DOID:0111143 mitochondrial complex V (ATP synthase) deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13273 DUOX2 implicated_via_orthology DOID:0050338 primary bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18758 BBS7 implicated_via_orthology DOID:1935 Bardet-Biedl syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8009 NRXN2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24289 CEPT1 implicated_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2537 CTSL implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12841 YES1 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18305 ATP6AP2 implicated_via_orthology DOID:5212 congenital disorder of glycosylation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7002 MEIS3P1 implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6225 KCNA6 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1776 CDK5R2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1617 CCT4 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15559 CHCHD10 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12509 UBQLN2 implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 implicated_via_orthology DOID:231 motor neuron disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12338 TRPC6 implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7707 NDUFS1 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4090 GABRR1 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14465 KCNK17 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8999 PISD implicated_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32225 WIPI2 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18867 KCNU1 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9453 PRODH implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16677 ANP32B implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:0111596 distal arthrogryposis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25744 AKIRIN1 implicated_via_orthology DOID:0050340 opportunistic bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17095 LARS2 implicated_via_orthology DOID:0050857 Perrault syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16676 ANP32D implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11115 KDM5D implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14075 SGCZ implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1077 BMPR1B implicated_via_orthology DOID:0050787 juvenile polyposis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:841 ATP5MC1 implicated_via_orthology DOID:0111143 mitochondrial complex V (ATP synthase) deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24502 WDR62 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14454 GABRQ implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25575 ETNK2 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:173 ACVR2A implicated_via_orthology DOID:0050787 juvenile polyposis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11390 AURKB implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1738 CDC42BPB implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4037 FYN implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30774 TFAP2E implicated_via_orthology DOID:535 sleep disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1967 CHRNG implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9103 PLXNB1 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6297 KCNQ3 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4037 FYN implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7715 NDUFS8 implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4522 NPBWR1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3594 FASN implicated_via_orthology DOID:0080000 muscular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6298 KCNQ4 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1917 CHD2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1777 CDK6 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9509 PSEN2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6864 MAP4K2 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24844 DNAJC5G implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20113 DEGS2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14234 NSD1 implicated_via_orthology DOID:0112103 Sotos syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26666 EML3 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24042 WWTR1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:0111605 distal arthrogryposis type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3660 FEZ2 implicated_via_orthology DOID:0111723 Jacobsen Syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18222 RBFOX1 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23114 ELL implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28337 C9orf72 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30064 PBRM1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7681 NDST2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11240 SPHK1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4200 BLOC1S1 implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19082 NALCN implicated_via_orthology DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15529 NLGN4Y implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7714 NDUFS7 implicated_via_orthology DOID:0060536 mitochondrial complex I deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11633 TCF3 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2277 COX6A1 implicated_via_orthology DOID:890 mitochondrial encephalomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14008 MXD3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10389 RPS15A implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12336 TRPC4 implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14683 POFUT2 implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10943 SLC1A5 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29106 DDHD2 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6735 LYN implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8148 OPHN1 implicated_via_orthology DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:801 ATP1A3 implicated_via_orthology DOID:0060178 familial hemiplegic migraine ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24768 PNPLA7 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9717 PEX2 implicated_via_orthology DOID:906 peroxisomal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4116 GALE implicated_via_orthology DOID:9870 galactosemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16704 SLC17A7 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6062 ING1 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET implicated_via_orthology DOID:0050547 familial medullary thyroid carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11168 SNTB1 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15559 CHCHD10 implicated_via_orthology DOID:0081356 spinal muscular atrophy, Jokela type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10600 SCNN1B implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:52410 ELOA3CP implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21691 CCZ1 implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A implicated_via_orthology DOID:6364 migraine ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9414 PRKG1 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29501 GPSM2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14543 WNK3 implicated_via_orthology DOID:4479 pseudohypoaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9886 KDM5A implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6218 KCNA1 implicated_via_orthology DOID:0050989 episodic ataxia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11995 TOR1B implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 implicated_via_orthology DOID:3883 Lynch syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7711 NDUFS4 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17073 ARHGAP26 implicated_via_orthology DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 implicated_via_orthology DOID:0112374 muscular dystrophy-dystroglycanopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9181 POLH implicated_via_orthology DOID:0050427 xeroderma pigmentosum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2750 DHX9 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25953 ZNF280D implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6996 MEF2C implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6846 MAP2K6 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11330 SSTR1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16064 GGA2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15529 NLGN4Y implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7659 NCBP2 implicated_via_orthology DOID:0060419 chromosome 3q29 microdeletion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14198 ELAC2 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:48778 HNRNPA1L3 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18597 ZNF280A implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16262 YAP1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14289 NLGN3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9874 RASAL2 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9668 PTPRD implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:0111269 autosomal dominant hyaline body myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2518 CTNS implicated_via_orthology DOID:1064 cystinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30939 ZFHX4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7684 NDUFA10 implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13681 DCHS1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3092 DYRK1B implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8127 OGT implicated_via_orthology DOID:0080240 non-syndromic X-linked intellectual disability 106 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:843 ATP5MC3 implicated_via_orthology DOID:0111143 mitochondrial complex V (ATP synthase) deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6143 ITGA7 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1966 CHRNE implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16835 TAOK2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6219 KCNA10 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1956 CHRNA2 implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9283 PPP1CC implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23111 DCHS2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17852 CHPT1 implicated_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3585 FANCD2 implicated_via_orthology DOID:13636 Fanconi anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11115 KDM5D implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB implicated_via_orthology DOID:0080096 myofibrillar myopathy 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:2106 myotonia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9886 KDM5A implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10935 SLC18A2 implicated_via_orthology DOID:809 cocaine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4637 GSTM5 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1057 BLK implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20564 MBNL3 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11408 STK4 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24456 DNER implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17293 PRKD2 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:583 APC implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8877 PFKM implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3520 EYA2 implicated_via_orthology DOID:14702 branchiootorenal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31666 CC2D2B implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6296 KCNQ2 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17089 SYNE1 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14464 KCNK16 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11107 SMARCD2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11391 AURKC implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11996 TOR2A implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4023 FXR1 implicated_via_orthology DOID:7474 malignant pleural mesothelioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8896 PGK1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19864 POU2F3 implicated_via_orthology DOID:2914 immune system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9681 PTPRS implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21246 PNPLA1 implicated_via_orthology DOID:0050729 Chanarin-Dorfman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12767 NSD3 implicated_via_orthology DOID:0112103 Sotos syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23386 MYCBP2 implicated_via_orthology DOID:936 brain disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8061 NUMBL implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28880 MAGT1 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 implicated_via_orthology DOID:0070202 familial partial lipodystrophy type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16754 ACAP3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6492 LAMC1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1397 CACNA1S implicated_via_orthology DOID:0060173 Timothy syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16051 PARD3 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9105 PLXNB3 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9056 PLCB3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3026 DRD5 implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2267 COX5A implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:3429 inclusion body myositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS implicated_via_orthology DOID:9263 homocystinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14402 HIPK2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2993 DONSON implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5287 HTR1B implicated_via_orthology DOID:14320 generalized anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6996 MEF2C implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6128 IRS4 implicated_via_orthology DOID:10914 amnestic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29932 COASY implicated_via_orthology DOID:0110740 neurodegeneration with brain iron accumulation 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:117 ACO1 implicated_via_orthology DOID:13268 porphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:0111269 autosomal dominant hyaline body myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1958 CHRNA4 implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1480 CAPN3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10909 SLC40A1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9551 PSMC4 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10979 SLC25A1 implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21166 RHEBL1 implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9802 RAC2 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17272 CENPJ implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24814 FOXO6 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9802 RAC2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12712 VPS33B implicated_via_orthology DOID:0050763 ARC syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18816 KIRREL2 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9207 CNOT8 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23656 TIMM50 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9412 PRKCZ implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29203 TBC1D24 implicated_via_orthology DOID:0111627 DOORS syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:3429 inclusion body myositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11189 SOX1 implicated_via_orthology DOID:0111779 X-linked panhypopituitarism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14464 KCNK16 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15446 PRPF31 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11117 SMN1 implicated_via_orthology DOID:12377 spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16262 YAP1 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:49897 PDPK2P implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1737 CDC42BPA implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:0110454 dilated cardiomyopathy 1S ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:48778 HNRNPA1L3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1226 GIPC1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11742 TFAP2A implicated_via_orthology DOID:535 sleep disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24941 HNRNPA3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17795 SAV1 implicated_via_orthology DOID:263 kidney cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:34397 JMJD7 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11743 TFAP2B implicated_via_orthology DOID:535 sleep disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11133 SNAP29 implicated_via_orthology DOID:0060337 CEDNIK syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4801 HADHA implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1485 CAPN8 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19019 TRIM46 implicated_via_orthology DOID:0080697 Opitz GBBB syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14465 KCNK17 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30859 SNRNP200 implicated_via_orthology DOID:0110366 retinitis pigmentosa 33 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6150 ITGAV implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10303 RPL13 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3032 DRP2 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:0070202 familial partial lipodystrophy type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10601 SCNN1D implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14446 PARD3B implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17638 MEIS3P2 implicated_via_orthology DOID:0050425 restless legs syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11997 TOR3A implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19309 KANK1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16634 MRPS33 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11192 SOX13 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28887 LEMD3 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14451 LPIN3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2973 DNM1L implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23149 UNC13C implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6222 KCNA4 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9788 RAB7A implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10899 SKP1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10594 SCN7A implicated_via_orthology DOID:0111294 generalized epilepsy with febrile seizures plus 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7795 NFKB2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29259 TAOK1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:11720 distal myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 implicated_via_orthology DOID:0060669 cerebral cavernous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20626 CHD7 implicated_via_orthology DOID:0050834 CHARGE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30269 RAB3C implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30256 PYGO1 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16817 ESS2 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8977 PIK3CD implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17074 SARM1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4037 FYN implicated_via_orthology DOID:2907 Goldenhar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9534 PSMA5 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9783 RAB5A implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7995 NRDC implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5033 HNRNPA2B1 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16703 SLC17A6 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29253 CC2D2A implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6220 KCNA2 implicated_via_orthology DOID:0050989 episodic ataxia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16268 PNPLA6 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29680 SLC25A40 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16673 ANP32E implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25422 ATP13A4 implicated_via_orthology DOID:0060556 Kufor-Rakeb syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11167 SNTA1 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6995 MEF2B implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11950 TNNT3 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20605 ALS2CL implicated_via_orthology DOID:0060194 amyotrophic lateral sclerosis type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:0111269 autosomal dominant hyaline body myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15984 APTX implicated_via_orthology DOID:0050754 ataxia with oculomotor apraxia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29199 TMCC3 implicated_via_orthology DOID:0050667 alcohol-related neurodevelopmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5126 HOXC4 implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24113 ATP13A3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29821 ISYNA1 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:0111596 distal arthrogryposis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3819 FOXO1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21169 RHOT2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:0080690 RASopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:43618 FADS2B implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28593 HYCC2 implicated_via_orthology DOID:0060793 hypomyelinating leukodystrophy 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:11720 distal myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17513 HOMER2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10436 RPS6KB1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7020 MEP1B implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10602 SCNN1G implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6325 KIF5C implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4408 GNG5 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10596 SCN8A implicated_via_orthology DOID:0111294 generalized epilepsy with febrile seizures plus 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1620 CCT6A implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14902 RAB6B implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6524 LCK implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 implicated_via_orthology DOID:0050575 D-2-hydroxyglutaric aciduria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1774 CDK5 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25686 PPCS implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19057 CHD6 implicated_via_orthology DOID:0050834 CHARGE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4915 HIPK3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11048 SLC6A2 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8010 NRXN3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16812 COQ8A implicated_via_orthology DOID:0050730 coenzyme Q10 deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20754 TRPC7 implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28185 ORAI3 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25716 COA7 implicated_via_orthology DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15827 SLC13A4 implicated_via_orthology DOID:0111668 Kohlschutter-Tonz syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3663 FGD1 implicated_via_orthology DOID:0110192 Charcot-Marie-Tooth disease type 4H ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6284 KCNMA1 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6863 MAP4K1 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11151 SNRPA implicated_via_orthology DOID:2994 germ cell cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9386 PRKAG2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1554 CBX4 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11946 TNNI2 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10809 SGCG implicated_via_orthology DOID:0110436 dilated cardiomyopathy 1L ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10917 SLC13A2 implicated_via_orthology DOID:0111668 Kohlschutter-Tonz syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9479 LONP1 implicated_via_orthology DOID:0111274 CODAS syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 implicated_via_orthology DOID:2960 photosensitive trichothiodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19093 PSD3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20407 CALR3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4636 GSTM4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12640 UVRAG implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:11720 distal myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7977 NR2F6 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17282 RIMS1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12774 WNT1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24526 ATL3 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:0110454 dilated cardiomyopathy 1S ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14542 WNK2 implicated_via_orthology DOID:4479 pseudohypoaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33511 ELOA3DP implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2269 COX5B implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17512 HOMER1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6211 ANOS1 implicated_via_orthology DOID:3614 Kallmann syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:0111596 distal arthrogryposis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3750 FLII implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21650 BMP8A implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4201 KAT2A implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6735 LYN implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7612 MYOG implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8860 PEX7 implicated_via_orthology DOID:0080377 peroxisomal biogenesis disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12649 VAPB implicated_via_orthology DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25422 ATP13A4 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9376 PRKAA1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2020 CLCN2 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:0111596 distal arthrogryposis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24127 TM2D2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11105 SMARCC2 implicated_via_orthology DOID:0050340 opportunistic bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12496 UBE3A implicated_via_orthology DOID:0060393 chromosome 15q11.2 deletion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4037 FYN implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7096 MID2 implicated_via_orthology DOID:0080697 Opitz GBBB syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:11720 distal myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17619 NDE1 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8878 PFKP implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1552 CBX2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3697 FGR implicated_via_orthology DOID:2907 Goldenhar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17345 FTMT implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:3429 inclusion body myositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH implicated_via_orthology DOID:0060236 xanthinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12009 TPI1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11504 SYNJ2 implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1057 BLK implicated_via_orthology DOID:2907 Goldenhar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7565 MYF5 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 implicated_via_orthology DOID:0070202 familial partial lipodystrophy type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1874 CFL1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2752 PIAS1 implicated_via_orthology DOID:2531 hematologic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3039 DSCAM implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11072 SLC9A2 implicated_via_orthology DOID:585 nephrolithiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15781 CHRFAM7A implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4389 GNAO1 implicated_via_orthology DOID:0050709 early infantile epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:0111269 autosomal dominant hyaline body myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9407 PRKD1 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14569 JPT1 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:3911 progeria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN implicated_via_orthology DOID:12705 Friedreich ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10852 SHMT2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14291 NLGN1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9212 POU2F1 implicated_via_orthology DOID:2914 immune system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14290 NLGN2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4403 GNG11 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21493 DNAAF4 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6866 MAP4K4 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6628 LLGL1 implicated_via_orthology DOID:263 kidney cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3515 EXTL1 implicated_via_orthology DOID:206 hereditary multiple exostoses ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10437 RPS6KB2 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3976 FTH1 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1737 CDC42BPA implicated_via_orthology DOID:0060669 cerebral cavernous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21645 CHCHD2 implicated_via_orthology DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11585 TBL1X implicated_via_orthology DOID:0050155 sensory system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15962 CBX8 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18039 KDM5B implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7106 ATXN3 implicated_via_orthology DOID:1440 Machado-Joseph disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11713 TDRKH implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21396 ABHD5 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24042 WWTR1 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6996 MEF2C implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16746 MBNL2 implicated_via_orthology DOID:450 myotonic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10464 RSU1 implicated_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8977 PIK3CD implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1955 CHRNA1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18423 DEPDC5 implicated_via_orthology DOID:2234 focal epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15734 KIRREL1 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20087 TTC8 implicated_via_orthology DOID:1935 Bardet-Biedl syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6494 LAMC3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6115 IREB2 implicated_via_orthology DOID:13268 porphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:11720 distal myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1486 CAPN9 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:220 ADAMTS4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2972 DNM1 implicated_via_orthology DOID:854 collagen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17084 SYNE2 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A implicated_via_orthology DOID:1062 Fanconi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10809 SGCG implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7931 NPM3 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8807 PDHA2 implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11623 TCF12 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4587 GRIN2C implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7550 MYBPC2 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6761 MXD1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23676 CHCHD2P9 implicated_via_orthology DOID:0081356 spinal muscular atrophy, Jokela type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13356 MCOLN1 implicated_via_orthology DOID:0080490 mucolipidosis type IV ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1479 CAPN2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3659 FEZ1 implicated_via_orthology DOID:0111723 Jacobsen Syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1291 DOP1B implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2208 COL4A6 implicated_via_orthology DOID:854 collagen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30313 UBR4 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2847 DGCR8 implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10939 SLC1A1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:2907 Goldenhar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26129 RASAL3 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1058 BLM implicated_via_orthology DOID:2717 Bloom syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11593 TBX10 implicated_via_orthology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15974 TRIM2 implicated_via_orthology DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30782 NAA15 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18865 KCNT1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15997 NAV2 implicated_via_orthology DOID:0070338 cerebellar hypoplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19217 THADA implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25896 ORAI1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14410 DHX36 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4389 GNAO1 implicated_via_orthology DOID:0112202 developmental and epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19664 GNG8 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31789 ATP13A5 implicated_via_orthology DOID:0060556 Kufor-Rakeb syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17208 BICD2 implicated_via_orthology DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29537 MEIS3 implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9180 POLG2 implicated_via_orthology DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4405 GNG3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30765 TNIK implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10817 SGPL1 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:0111605 distal arthrogryposis type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27067 HNRNPA1L2 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19125 FGD4 implicated_via_orthology DOID:6683 X-linked Aarskog syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4816 HARS1 implicated_via_orthology DOID:2491 sensory peripheral neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4404 GNG2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16467 ACAP1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12591 UROD implicated_via_orthology DOID:13268 porphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:970 BBS5 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13210 ARL6 implicated_via_orthology DOID:1935 Bardet-Biedl syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3987 FTHL17 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17565 MINK1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19959 TOGARAM1 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:0111269 autosomal dominant hyaline body myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16036 ORMDL1 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:800 ATP1A2 implicated_via_orthology DOID:0060178 familial hemiplegic migraine ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1965 CHRND implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10940 SLC1A2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28184 CHCHD6 implicated_via_orthology DOID:9955 hypoplastic left heart syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11104 SMARCC1 implicated_via_orthology DOID:0050340 opportunistic bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27097 RBFOX3 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7680 NDST1 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1961 CHRNB1 implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3756 FLNC implicated_via_orthology DOID:0080096 myofibrillar myopathy 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4840 HCK implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:0111596 distal arthrogryposis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16714 PKNOX2 implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21407 AKIRIN2 implicated_via_orthology DOID:0050340 opportunistic bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1497 CASK implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17178 ADAMTS20 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17089 SYNE1 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9213 POU2F2 implicated_via_orthology DOID:2914 immune system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4566 GRB2 implicated_via_orthology DOID:0111642 autosomal recessive nonsyndromic deafness 114 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:0111269 autosomal dominant hyaline body myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10850 SHMT1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20154 ABHD4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1486 CAPN9 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2494 CTBP1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13906 MXD4 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:341 AGXT implicated_via_orthology DOID:0111670 primary hyperoxaluria type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20154 ABHD4 implicated_via_orthology DOID:0050729 Chanarin-Dorfman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20604 DIS3 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9586 PTCH2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6524 LCK implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8127 OGT implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11169 SNTB2 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10934 SLC18A1 implicated_via_orthology DOID:809 cocaine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12010 TPM1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24649 ETNK1 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3519 EYA1 implicated_via_orthology DOID:14702 branchiootorenal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1908 VPS13A implicated_via_orthology DOID:0050766 choreaacanthocytosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:39979 BORCS8-MEF2B implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1316 EML4 implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18871 MMAA implicated_via_orthology DOID:14749 methylmalonic acidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO implicated_via_orthology DOID:0050338 primary bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14290 NLGN2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10601 SCNN1D implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23150 UNC13A implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10360 RPL5 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3999 FTL implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6993 MEF2A implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6842 MAP2K2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:0111605 distal arthrogryposis type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19161 STARD8 implicated_via_orthology DOID:14447 gonadal dysgenesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14656 DSCAML1 implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13816 ATP12A implicated_via_orthology DOID:0060178 familial hemiplegic migraine ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6093 INSRR implicated_via_orthology DOID:535 sleep disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10526 SALL2 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6221 KCNA3 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20751 WDFY3 implicated_via_orthology DOID:0070295 primary autosomal dominant microcephaly 18 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29529 TBL1XR1 implicated_via_orthology DOID:0050155 sensory system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7905 NPHP1 implicated_via_orthology DOID:12712 nephronophthisis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1962 CHRNB2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2074 CLN3 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3585 FANCD2 implicated_via_orthology DOID:13636 Fanconi anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12841 YES1 implicated_via_orthology DOID:2907 Goldenhar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3490 ETV1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9676 PTPRN implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2388 CRYAA implicated_via_orthology DOID:0111208 obsolete distal hereditary motor neuronopathy type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14542 WNK2 implicated_via_orthology DOID:4479 pseudohypoaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12513 UCHL1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7002 MEIS3P1 implicated_via_orthology DOID:0050425 restless legs syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14198 ELAC2 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14450 LPIN2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23149 UNC13C implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33631 PEAR1 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14464 KCNK16 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:224 ADAMTS8 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2995 DPAGT1 implicated_via_orthology DOID:0080562 congenital disorder of glycosylation Ij ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9454 PROM1 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17441 RCOR1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14653 PARVB implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11048 SLC6A2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1736 CDC42 implicated_via_orthology DOID:4971 myelofibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30689 CAND2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:0110454 dilated cardiomyopathy 1S ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19439 KCNK18 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9778 RAB3B implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7795 NFKB2 implicated_via_orthology DOID:0050340 opportunistic bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14652 PARVA implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17500 GORASP2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:0111269 autosomal dominant hyaline body myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12496 UBE3A implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30791 UBIAD1 implicated_via_orthology DOID:0060058 lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18866 KCNT2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10011 RHEB implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25238 SVIP implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16714 PKNOX2 implicated_via_orthology DOID:0050425 restless legs syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28505 BOD1L2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16859 NOS1AP implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11996 TOR2A implicated_via_orthology DOID:543 dystonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24502 WDR62 implicated_via_orthology DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9205 PON2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13339 KIF4A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18744 DNAI2 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10945 SLC1A7 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4089 GABRP implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13357 MCOLN2 implicated_via_orthology DOID:0080490 mucolipidosis type IV ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:2106 myotonia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9059 PLCB4 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9777 RAB3A implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29006 SEC16A implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23041 PDSS2 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2026 CLCNKA implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:676 ARHGAP6 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3522 EYA4 implicated_via_orthology DOID:14702 branchiootorenal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21244 LEMD2 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6222 KCNA4 implicated_via_orthology DOID:0050989 episodic ataxia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1965 CHRND implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17052 SEC31A implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18039 KDM5B implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7001 MEIS2 implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1736 CDC42 implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18859 SPHK2 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18859 SPHK2 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31789 ATP13A5 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19839 FRMD6 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP implicated_via_orthology DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12649 VAPB implicated_via_orthology DOID:0050752 amyotrophic lateral sclerosis type 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9509 PSEN2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4923 HK2 implicated_via_orthology DOID:0050524 maturity-onset diabetes of the young ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6324 KIF5B implicated_via_orthology DOID:231 motor neuron disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9011 PKD2L1 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12313 JMJD1C implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23089 SLC13A5 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:2998 testicular cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9059 PLCB4 implicated_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11408 STK4 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4023 FXR1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21062 FARS2 implicated_via_orthology DOID:0110822 hereditary spastic paraplegia 77 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4116 GALE implicated_via_orthology DOID:9870 galactosemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7707 NDUFS1 implicated_via_orthology DOID:0112068 nuclear type mitochondrial complex I deficiency 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10250 ROBO2 implicated_via_orthology DOID:0060475 myoclonic-atonic epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10582 SCN10A implicated_via_orthology DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16812 COQ8A implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16912 EMG1 implicated_via_orthology DOID:0050684 Bowen-Conradi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9760 RAB11A implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14449 OPN4 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30782 NAA15 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23022 ZNF280B implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2711 DCTN1 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:0110640 congenital muscular dystrophy due to LMNA mutation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11406 STK3 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23463 AGAP9 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7666 NCKAP1 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7672 NCOR1 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29101 ANKLE2 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10917 SLC13A2 implicated_via_orthology DOID:0050667 alcohol-related neurodevelopmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2343 CRB1 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5192 HES1 implicated_via_orthology DOID:3620 central nervous system cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 implicated_via_orthology DOID:1969 cerebral palsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:145 ACTG2 implicated_via_orthology DOID:0081112 Baraitser-Winter syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16744 CIZ1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30760 TMEM165 implicated_via_orthology DOID:0050571 congenital disorder of glycosylation type II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB implicated_via_orthology DOID:0111190 distal myopathy 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16703 SLC17A6 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14085 RTN4 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30402 SENP7 implicated_via_orthology DOID:0060318 acute promyelocytic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10421 RPS3A implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1057 BLK implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6886 MAPK9 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19306 SLC30A7 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24768 PNPLA7 implicated_via_orthology DOID:1432 blindness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2288 COX7A2 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2202 COL4A1 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5270 DNAJB1 implicated_via_orthology DOID:0081353 congenital myopathy 21 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:143 ACTC1 implicated_via_orthology DOID:0081112 Baraitser-Winter syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15827 SLC13A4 implicated_via_orthology DOID:0050667 alcohol-related neurodevelopmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7897 NPC1 implicated_via_orthology DOID:14504 Niemann-Pick disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:0060581 Noonan syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14054 MRPL15 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3570 ACSL3 implicated_via_orthology DOID:0112050 non-syndromic X-linked intellectual disability 63 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19088 ASH1L implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:144 ACTG1 implicated_via_orthology DOID:0081112 Baraitser-Winter syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18039 KDM5B implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24164 TPPP implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6297 KCNQ3 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18748 CNTNAP5 implicated_via_orthology DOID:0060308 autosomal recessive intellectual developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29308 FBRSL1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25756 TOMM40L implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7456 MT-ND2 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 implicated_via_orthology DOID:8712 neurofibromatosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20989 NMNAT3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24142 TM2D1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12648 VAPA implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6735 LYN implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17031 GRK7 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2876 DIAPH1 implicated_via_orthology DOID:0060690 autosomal dominant auditory neuropathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44446 USP17L18 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25198 SLC25A46 implicated_via_orthology DOID:870 neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44448 USP17L20 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15974 TRIM2 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14451 LPIN3 implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 implicated_via_orthology DOID:3672 rhabdoid cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29681 SLC25A33 implicated_via_orthology DOID:0081328 familial hyperinsulinemic hypoglycemia 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44205 MPC1L implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 implicated_via_orthology DOID:0112374 muscular dystrophy-dystroglycanopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:668 RHOB implicated_via_orthology DOID:0080377 peroxisomal biogenesis disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20564 MBNL3 implicated_via_orthology DOID:11722 myotonic dystrophy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 implicated_via_orthology DOID:2394 ovarian cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7530 MVK implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2204 COL4A3 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28468 SNX33 implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4236 GFER implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10062 RNF20 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1488 CAPZA1 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8016 NSF implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9886 KDM5A implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24138 DNAJC5B implicated_via_orthology DOID:0110720 neuronal ceroid lipofuscinosis 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6126 IRS2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6694 LRP2 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10411 RPS24 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 implicated_via_orthology DOID:0060894 early-onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44439 USP17L11 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29947 TRAK1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9382 PRKACG implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14289 NLGN3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4460 GPM6A implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 implicated_via_orthology DOID:0080840 optic atrophy 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12877 ZMPSTE24 implicated_via_orthology DOID:0060762 restrictive dermopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:130 ACTA2 implicated_via_orthology DOID:10486 intestinal atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:34434 USP17L2 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9802 RAC2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4200 BLOC1S1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9559 PSMD2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5542 IGHMBP2 implicated_via_orthology DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1337 KDM3B implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4587 GRIN2C implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21182 NUP43 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19412 ZMYND10 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:10914 amnestic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7877 CNOT1 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31326 ATXN2L implicated_via_orthology DOID:0050955 spinocerebellar ataxia type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21752 SDHAF3 implicated_via_orthology DOID:0050773 paraganglioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6847 MAP2K7 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14973 SNX9 implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9719 PEX5 implicated_via_orthology DOID:0080477 peroxisome biogenesis disorder 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 implicated_via_orthology DOID:0110640 congenital muscular dystrophy due to LMNA mutation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:598 APLP2 implicated_via_orthology DOID:0080348 Alzheimer's disease 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:808 ATP1B4 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17795 SAV1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:680 tauopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14508 MRPS22 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11101 SMARCA5 implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9401 PRKCE implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32151 ATAD3C implicated_via_orthology DOID:440 neuromuscular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12757 WDR5 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11107 SMARCD2 implicated_via_orthology DOID:1925 Coffin-Siris syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37180 USP17L7 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24174 ACSBG2 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1058 BLM implicated_via_orthology DOID:2717 Bloom syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4162 GARS1 implicated_via_orthology DOID:0050539 Charcot-Marie-Tooth disease type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44438 USP17L10 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:597 APLP1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10397 RPS17 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10590 SCN3A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4226 GDI1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:0111602 distal arthrogryposis type 2B3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11279 SQLE implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21642 VARS2 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14449 OPN4 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10942 SLC1A4 implicated_via_orthology DOID:0050994 episodic ataxia type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8857 PEX16 implicated_via_orthology DOID:0080483 peroxisome biogenesis disorder 8A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3078 DUT implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17079 GGA3 implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29824 MYL11 implicated_via_orthology DOID:0110316 hypertrophic cardiomyopathy 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19205 STIM2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 implicated_via_orthology DOID:0080336 mitochondrial DNA depletion syndrome 14 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21253 LHFPL5 implicated_via_orthology DOID:0110518 autosomal recessive nonsyndromic deafness 67 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4901 HHEX implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2745 DDX3X implicated_via_orthology DOID:0050457 Sertoli cell-only syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15480 DIAPH3 implicated_via_orthology DOID:0060690 autosomal dominant auditory neuropathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10588 SCN2A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12674 VDAC3 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9871 RASA1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37177 USP17L5 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9086 PLP1 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25686 PPCS implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:855 ATP6V0C implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12649 VAPB implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2285 COX6C implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20 AARS1 implicated_via_orthology DOID:7319 axonal neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7680 NDST1 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9076 PLIN1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1072 BMP5 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7897 NPC1 implicated_via_orthology DOID:0070113 Niemann-Pick disease type C1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24047 ATL2 implicated_via_orthology DOID:0110791 hereditary spastic paraplegia 3A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3756 FLNC implicated_via_orthology DOID:0111190 distal myopathy 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18863 KCNH7 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11946 TNNI2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14307 LRRC1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21729 IRF2BP2 implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2192 COL15A1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9509 PSEN2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3378 EPB41L1 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2900 DLG1 implicated_via_orthology DOID:0060072 benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12473 UBE2B implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17019 PRICKLE1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21022 AARS2 implicated_via_orthology DOID:7319 axonal neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9459 PROX1 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9532 PSMA3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA implicated_via_orthology DOID:0111190 distal myopathy 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10603 SCO1 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44441 USP17L13 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17259 LSM4 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9650 PTPN2 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16083 RHBDL2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5229 DNAJA1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 implicated_via_orthology DOID:2962 Cockayne syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:597 APLP1 implicated_via_orthology DOID:0080348 Alzheimer's disease 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10915 SLC12A7 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:130 ACTA2 implicated_via_orthology DOID:0081112 Baraitser-Winter syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11164 SNRPN implicated_via_orthology DOID:680 tauopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:487 ANGPT4 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18747 CNTNAP4 implicated_via_orthology DOID:0060308 autosomal recessive intellectual developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24565 KANSL1 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19205 STIM2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11989 TOP2A implicated_via_orthology DOID:2115 B cell deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:0060581 Noonan syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17976 RPL10L implicated_via_orthology DOID:14789 spondyloepiphyseal dysplasia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4200 BLOC1S1 implicated_via_orthology DOID:896 metal metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 implicated_via_orthology DOID:3620 central nervous system cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2518 CTNS implicated_via_orthology DOID:1064 cystinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21295 EPS8L1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11623 TCF12 implicated_via_orthology DOID:0060488 Pitt-Hopkins syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25481 TRMU implicated_via_orthology DOID:310 MERRF syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19307 SDK1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A implicated_via_orthology DOID:0070044 Coffin-Siris syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18042 CNOT6L implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1743 CDC5L implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14536 KLF15 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB implicated_via_orthology DOID:0081112 Baraitser-Winter syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET implicated_via_orthology DOID:10016 multiple endocrine neoplasia type 2B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18622 COG7 implicated_via_orthology DOID:0070257 congenital disorder of glycosylation type IIe ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3087 DVL3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12849 YWHAB implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44439 USP17L11 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2343 CRB1 implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6515 LATS2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25812 SRD5A3 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37180 USP17L7 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6317 KIF1C implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 implicated_via_orthology DOID:0060894 early-onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9577 PSPH implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10977 SLC24A3 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22954 POGLUT1 implicated_via_orthology DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6325 KIF5C implicated_via_orthology DOID:12377 spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12473 UBE2B implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18862 KCNH6 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:646 ARAF implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12333 TRPC1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 implicated_via_orthology DOID:0060894 early-onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18597 ZNF280A implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44448 USP17L20 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12841 YES1 implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10430 RPS6KA1 implicated_via_orthology DOID:3783 Coffin-Lowry syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 implicated_via_orthology DOID:2998 testicular cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18277 SEC61G implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 implicated_via_orthology DOID:0060308 autosomal recessive intellectual developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:119 ACOX1 implicated_via_orthology DOID:906 peroxisomal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4518 NMUR1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10582 SCN10A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13281 ESPN implicated_via_orthology DOID:0110494 autosomal recessive nonsyndromic deafness 36 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9105 PLXNB3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7449 MTMR1 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32940 NKX2-6 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1392 CACNA1E implicated_via_orthology DOID:0050951 hereditary ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44447 USP17L19 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20815 KDM3A implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9547 PSMC1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7898 NPC1L1 implicated_via_orthology DOID:14504 Niemann-Pick disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6948 MCM5 implicated_via_orthology DOID:0060306 Meier-Gorlin syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25701 CHD9 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21650 BMP8A implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP implicated_via_orthology DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6514 LATS1 implicated_via_orthology DOID:263 kidney cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15814 ACSS2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29536 MAPKBP1 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4024 FXR2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10939 SLC1A1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29685 IARS2 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7898 NPC1L1 implicated_via_orthology DOID:0070113 Niemann-Pick disease type C1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11102 SMARCAL1 implicated_via_orthology DOID:0060490 Schimke immuno-osseous dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1392 CACNA1E implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15974 TRIM2 implicated_via_orthology DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11947 TNNI3 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2861 DHFR implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4318 GLI2 implicated_via_orthology DOID:0050338 primary bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3157 EDA implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23487 IDI2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:800 ATP1A2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18196 SOX7 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3380 EPB41L3 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:0111602 distal arthrogryposis type 2B3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25257 TMEM18 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37258 ALG1L2 implicated_via_orthology DOID:5212 congenital disorder of glycosylation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17586 MTCH1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14430 SLC13A3 implicated_via_orthology DOID:0050667 alcohol-related neurodevelopmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9453 PRODH implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21710 TBC1D9 implicated_via_orthology DOID:0070357 nephrotic syndrome type 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3474 ESRRG implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20900 TRMT6 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:4362 cervical cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:598 APLP2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7883 NOTCH3 implicated_via_orthology DOID:3620 central nervous system cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4574 GRIA4 implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10564 SCAMP2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17842 GGA1 implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18443 PIWIL3 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2698 DBT implicated_via_orthology DOID:9269 maple syrup urine disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28433 SPNS3 implicated_via_orthology DOID:1927 sphingolipidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG implicated_via_orthology DOID:3911 progeria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10943 SLC1A5 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10563 SCAMP1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20822 ADGRL4 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20626 CHD7 implicated_via_orthology DOID:0050834 CHARGE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20564 MBNL3 implicated_via_orthology DOID:0050759 myotonic dystrophy type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29989 GATAD2A implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44453 USP17L24 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23302 HKDC1 implicated_via_orthology DOID:0050524 maturity-onset diabetes of the young ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15734 KIRREL1 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2903 DLG4 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6771 SMAD5 implicated_via_orthology DOID:0050787 juvenile polyposis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11112 SMC1B implicated_via_orthology DOID:0080506 Cornelia de Lange syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28472 TMEM43 implicated_via_orthology DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A implicated_via_orthology DOID:896 metal metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37177 USP17L5 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6189 JAG2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9280 PPOX implicated_via_orthology DOID:13268 porphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44443 USP17L15 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3483 ETFDH implicated_via_orthology DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28727 APOO implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13588 FBXO9 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12799 WWOX implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10899 SKP1 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10588 SCN2A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:0111602 distal arthrogryposis type 2B3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18816 KIRREL2 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2901 DLG2 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9356 PREB implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16636 KIF1B implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 implicated_via_orthology DOID:0060578 Noonan syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9119 PMPCB implicated_via_orthology DOID:0060892 late onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4862 NCKAP1L implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20342 ZDHHC15 implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3642 FDXR implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6628 LLGL1 implicated_via_orthology DOID:769 neuroblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11106 SMARCD1 implicated_via_orthology DOID:1925 Coffin-Siris syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10571 SCD implicated_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9717 PEX2 implicated_via_orthology DOID:0080480 peroxisome biogenesis disorder 5A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11927 TNFSF12 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B implicated_via_orthology DOID:1838 Menkes disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10013 GRK1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10555 ATXN2 implicated_via_orthology DOID:0050955 spinocerebellar ataxia type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10597 SCN9A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37179 USP17L6P implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17826 WDR5B implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7908 NPHS1 implicated_via_orthology DOID:0080390 nephrotic syndrome type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3420 EPS8 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2195 COL18A1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6923 MBNL1 implicated_via_orthology DOID:11722 myotonic dystrophy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25701 CHD9 implicated_via_orthology DOID:0050834 CHARGE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10596 SCN8A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20397 ATF7IP2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32695 SKOR2 implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44438 USP17L10 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7707 NDUFS1 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12009 TPI1 implicated_via_orthology DOID:0050884 triosephosphate isomerase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 implicated_via_orthology DOID:1926 Gaucher's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12841 YES1 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12509 UBQLN2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4213 GDAP1L1 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20626 CHD7 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1392 CACNA1E implicated_via_orthology DOID:0111181 familial hemiplegic migraine 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7883 NOTCH3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:129 ACTA1 implicated_via_orthology DOID:10486 intestinal atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 implicated_via_orthology DOID:5723 optic atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19354 SIN3B implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11097 SMARCA1 implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:697 ARL6IP1 implicated_via_orthology DOID:0110812 hereditary spastic paraplegia 61 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22962 MED13L implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12648 VAPA implicated_via_orthology DOID:0050752 amyotrophic lateral sclerosis type 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3026 DRD5 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21169 RHOT2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9104 PLXNB2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:52413 KDM4F implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29097 TBC1D9B implicated_via_orthology DOID:0070357 nephrotic syndrome type 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 implicated_via_orthology DOID:0111580 Behr syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:646 ARAF implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4545 GRK6 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 implicated_via_orthology DOID:854 collagen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2941 DNAH10 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11634 TCF4 implicated_via_orthology DOID:0060488 Pitt-Hopkins syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9956 RELB implicated_via_orthology DOID:104 bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14449 OPN4 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7898 NPC1L1 implicated_via_orthology DOID:14504 Niemann-Pick disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20068 USP42 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16893 PLIN3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13081 SCAPER implicated_via_orthology DOID:1935 Bardet-Biedl syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4839 HCFC1 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14258 CD2AP implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11196 SOX15 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16746 MBNL2 implicated_via_orthology DOID:0050759 myotonic dystrophy type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18001 TOMM40 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8016 NSF implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4925 HK3 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16064 GGA2 implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10603 SCO1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2903 DLG4 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1075 BMP8B implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2453 CSNK1E implicated_via_orthology DOID:0060807 syndromic X-linked intellectual disability Najm type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2740 DDX17 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27561 TSEN54 implicated_via_orthology DOID:0060273 pontocerebellar hypoplasia type 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12473 UBE2B implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23302 HKDC1 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4476 GPR21 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2901 DLG2 implicated_via_orthology DOID:0060072 benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12333 TRPC1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24205 CAPZA3 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 implicated_via_orthology DOID:0110640 congenital muscular dystrophy due to LMNA mutation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21246 PNPLA1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10468 RTN2 implicated_via_orthology DOID:0110765 hereditary spastic paraplegia 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1851 CENPA implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20597 UFM1 implicated_via_orthology DOID:0050950 autosomal recessive cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:800 ATP1A2 implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA implicated_via_orthology DOID:854 collagen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:811 ATP2A1 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10484 RYR2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16999 CLP1 implicated_via_orthology DOID:0060279 pontocerebellar hypoplasia type 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18801 POGZ implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6217 KATNB1 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13488 VPS4A implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:0080326 familial hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10386 RPS13 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9886 KDM5A implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16262 YAP1 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3039 DSCAM implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44445 USP17L17 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:0111602 distal arthrogryposis type 2B3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11231 ATL1 implicated_via_orthology DOID:0110791 hereditary spastic paraplegia 3A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11474 SURF1 implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:14566 disease of cellular proliferation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3571 ACSL4 implicated_via_orthology DOID:0050776 non-syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2074 CLN3 implicated_via_orthology DOID:0110721 neuronal ceroid lipofuscinosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24036 APC2 implicated_via_orthology DOID:0080409 familial adenomatous polyposis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8995 PIP5K1B implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10941 SLC1A3 implicated_via_orthology DOID:0050994 episodic ataxia type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9713 PEX19 implicated_via_orthology DOID:905 Zellweger syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8945 SERPINI2 implicated_via_orthology DOID:13372 alpha 1-antitrypsin deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13607 FBXW11 implicated_via_orthology DOID:1838 Menkes disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3332 MARK2 implicated_via_orthology DOID:0070356 visual impairment and progressive phthisis bulbi ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44450 USP17L22 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44456 USP17L28 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13834 CNTNAP3 implicated_via_orthology DOID:0060308 autosomal recessive intellectual developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29421 AGAP11 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8977 PIK3CD implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3033 ATN1 implicated_via_orthology DOID:0060162 dentatorubral-pallidoluysian atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14262 AUTS2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12648 VAPA implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9114 PMM1 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1020 BCS1L implicated_via_orthology DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2900 DLG1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9377 PRKAA2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:491 ANGPTL3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4201 KAT2A implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10945 SLC1A7 implicated_via_orthology DOID:0050994 episodic ataxia type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9305 PPP2R2B implicated_via_orthology DOID:1441 autosomal dominant cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7105 MITF implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17341 TRNT1 implicated_via_orthology DOID:8955 sideroblastic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11108 SMARCD3 implicated_via_orthology DOID:1925 Coffin-Siris syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7450 MTMR2 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12484 UBE2H implicated_via_orthology DOID:934 viral infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:669 RHOC implicated_via_orthology DOID:0080377 peroxisomal biogenesis disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8490 ORC4 implicated_via_orthology DOID:0080513 Meier-Gorlin syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:819 ATP4A implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30666 VHLL implicated_via_orthology DOID:14175 von Hippel-Lindau disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13538 MARK4 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44452 USP17L25 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24888 PNPLA5 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14372 SCYL1 implicated_via_orthology DOID:0111155 autosomal recessive spinocerebellar ataxia 21 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23064 GSTO2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32035 CNTNAP3B implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20153 CHD8 implicated_via_orthology DOID:0050834 CHARGE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7994 NRCAM implicated_via_orthology DOID:0060246 MASA syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13909 DMRT3 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10583 SCN11A implicated_via_orthology DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20266 ALG5 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10468 RTN2 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13760 CYFIP2 implicated_via_orthology DOID:0060393 chromosome 15q11.2 deletion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29525 GLIS1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3092 DYRK1B implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24042 WWTR1 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15822 OXR1 implicated_via_orthology DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17166 FJX1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15469 DNAJC6 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16050 MED12L implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:248 PLIN2 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33 ABCA3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6628 LLGL1 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11233 SPAST implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11806 TIAM2 implicated_via_orthology DOID:0070354 cataract 48 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24007 ATAD3B implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26310 KANSL1L implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10852 SHMT2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:0111602 distal arthrogryposis type 2B3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13834 CNTNAP3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2468 SMC3 implicated_via_orthology DOID:0080507 Cornelia de Lange syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25701 CHD9 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12672 VDAC2 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7836 NKX2-3 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19354 SIN3B implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19129 PSAT1 implicated_via_orthology DOID:0080075 Neu-Laxova syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26164 NAA16 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1389 CACNA1B implicated_via_orthology DOID:0050951 hereditary ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17028 SNF8 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23302 HKDC1 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20605 ALS2CL implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20492 COA8 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9412 PRKCZ implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30621 SPNS1 implicated_via_orthology DOID:1927 sphingolipidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25994 NSUN2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9103 PLXNB1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24526 ATL3 implicated_via_orthology DOID:0110791 hereditary spastic paraplegia 3A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:4362 cervical cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6541 LDHB implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 implicated_via_orthology DOID:13372 alpha 1-antitrypsin deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 implicated_via_orthology DOID:14566 disease of cellular proliferation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20151 SLC17A8 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23466 AGAP6 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3041 RCAN2 implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6628 LLGL1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6324 KIF5B implicated_via_orthology DOID:12377 spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6629 LLGL2 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16654 MRPL50 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25786 REEP1 implicated_via_orthology DOID:0110782 hereditary spastic paraplegia 31 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5724 RBPJ implicated_via_orthology DOID:0060227 Adams-Oliver syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17780 ACTBL2 implicated_via_orthology DOID:10486 intestinal atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13867 SH3KBP1 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25725 WDR75 implicated_via_orthology DOID:0111169 subcortical band heterotopia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4024 FXR2 implicated_via_orthology DOID:14261 fragile X syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6515 LATS2 implicated_via_orthology DOID:263 kidney cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2890 DKC1 implicated_via_orthology DOID:0070025 X-linked dyskeratosis congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18859 SPHK2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24128 TM2D3 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2699 DDX3Y implicated_via_orthology DOID:0050457 Sertoli cell-only syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18582 ADGRL2 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33196 PLIN5 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11167 SNTA1 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 implicated_via_orthology DOID:0050539 Charcot-Marie-Tooth disease type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:804 ATP1B1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33721 ALG1L1P implicated_via_orthology DOID:5212 congenital disorder of glycosylation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2557 CUX1 implicated_via_orthology DOID:2531 hematologic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9894 RBL2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1779 CDK8 implicated_via_orthology DOID:0112221 developmental and epileptic encephalopathy 87 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21081 NCOA7 implicated_via_orthology DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:143 ACTC1 implicated_via_orthology DOID:10486 intestinal atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9176 POLD2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 implicated_via_orthology DOID:0050338 primary bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15832 BSCL2 implicated_via_orthology DOID:0050585 congenital generalized lipodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17975 REEP2 implicated_via_orthology DOID:0110782 hereditary spastic paraplegia 31 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2908 DLL1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:0080326 familial hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11752 TFE3 implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 implicated_via_orthology DOID:2129 atypical teratoid rhabdoid tumor ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16789 NMNAT2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3471 ESRRA implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7586 MYL5 implicated_via_orthology DOID:0110316 hypertrophic cardiomyopathy 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37175 USP17L3 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20113 DEGS2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21289 UBR2 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12009 TPI1 implicated_via_orthology DOID:0050884 triosephosphate isomerase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9498 PSAP implicated_via_orthology DOID:9455 lipid storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28957 EMC1 implicated_via_orthology DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9115 PMM2 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2206 COL4A4 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24715 TBC1D8B implicated_via_orthology DOID:0070357 nephrotic syndrome type 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6250 KCNH1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:801 ATP1A3 implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:0060581 Noonan syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29866 NFASC implicated_via_orthology DOID:0060246 MASA syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4707 GYS2 implicated_via_orthology DOID:3534 Lafora disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10582 SCN10A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11945 TNNI1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8605 PARG implicated_via_orthology DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28862 NIPBL implicated_via_orthology DOID:11725 Cornelia de Lange syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9788 RAB7A implicated_via_orthology DOID:0050539 Charcot-Marie-Tooth disease type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4801 HADHA implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1778 CDK7 implicated_via_orthology DOID:9993 hypoglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4379 GNA11 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16812 COQ8A implicated_via_orthology DOID:0050730 coenzyme Q10 deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6896 MARK1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4390 GNAQ implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30324 RFK implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6324 KIF5B implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8876 PFKL implicated_via_orthology DOID:2747 glycogen storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29101 ANKLE2 implicated_via_orthology DOID:0070289 primary autosomal recessive microcephaly 16 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17168 RAB3GAP2 implicated_via_orthology DOID:0060237 Warburg micro syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17590 MYG1 implicated_via_orthology DOID:12306 vitiligo ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44449 USP17L21 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20761 ZFYVE26 implicated_via_orthology DOID:0110768 hereditary spastic paraplegia 15 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8807 PDHA2 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24007 ATAD3B implicated_via_orthology DOID:440 neuromuscular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13356 MCOLN1 implicated_via_orthology DOID:3343 glycoproteinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9552 PSMC5 implicated_via_orthology DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30024 PEX5L implicated_via_orthology DOID:0080477 peroxisome biogenesis disorder 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10942 SLC1A4 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10469 RTN3 implicated_via_orthology DOID:0110765 hereditary spastic paraplegia 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11430 STX12 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:118 ACO2 implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12509 UBQLN2 implicated_via_orthology DOID:0060206 amyotrophic lateral sclerosis type 15 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8951 SERPINE2 implicated_via_orthology DOID:13372 alpha 1-antitrypsin deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5244 HSPA9 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25302 COQ9 implicated_via_orthology DOID:0050730 coenzyme Q10 deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 implicated_via_orthology DOID:1933 Rubinstein-Taybi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2388 CRYAA implicated_via_orthology DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21719 MYL7 implicated_via_orthology DOID:0110316 hypertrophic cardiomyopathy 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10818 SGSH implicated_via_orthology DOID:0111395 mucopolysaccharidosis type IIIA ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17056 RPH3A implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10011 RHEB implicated_via_orthology DOID:13515 tuberous sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A implicated_via_orthology DOID:1838 Menkes disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2902 DLG3 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14073 ATP1A4 implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20959 SCAF8 implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1939 CHL1 implicated_via_orthology DOID:0060246 MASA syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10944 SLC1A6 implicated_via_orthology DOID:0050994 episodic ataxia type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6923 MBNL1 implicated_via_orthology DOID:0050759 myotonic dystrophy type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26600 WDR81 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:0111602 distal arthrogryposis type 2B3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11274 SPTB implicated_via_orthology DOID:0050882 spinocerebellar ataxia type 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21088 SCD5 implicated_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19693 COQ4 implicated_via_orthology DOID:0050730 coenzyme Q10 deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 implicated_via_orthology DOID:0050560 Walker-Warburg syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA implicated_via_orthology DOID:104 bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10485 RYR3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21406 RARS2 implicated_via_orthology DOID:0060275 pontocerebellar hypoplasia type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12485 UBE2I implicated_via_orthology DOID:2531 hematologic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10596 SCN8A implicated_via_orthology DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10431 RPS6KA2 implicated_via_orthology DOID:3783 Coffin-Lowry syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20749 ZDHHC20 implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12854 YWHAQ implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25554 SLC25A36 implicated_via_orthology DOID:0081328 familial hyperinsulinemic hypoglycemia 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17272 CENPJ implicated_via_orthology DOID:0070290 primary autosomal recessive microcephaly 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30225 SLC52A1 implicated_via_orthology DOID:0050694 Brown-Vialetto-Van Laere syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10583 SCN11A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2290 COX7A2P2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24042 WWTR1 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13538 MARK4 implicated_via_orthology DOID:0070356 visual impairment and progressive phthisis bulbi ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12591 UROD implicated_via_orthology DOID:3132 porphyria cutanea tarda ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8011 CNTNAP1 implicated_via_orthology DOID:0060308 autosomal recessive intellectual developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8851 PEX10 implicated_via_orthology DOID:906 peroxisomal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2853 DGKG implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8878 PFKP implicated_via_orthology DOID:2747 glycogen storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1389 CACNA1B implicated_via_orthology DOID:0111181 familial hemiplegic migraine 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18828 NDUFAF1 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29568 LHFPL4 implicated_via_orthology DOID:0110518 autosomal recessive nonsyndromic deafness 67 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26292 ELOVL7 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:0080326 familial hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 implicated_via_orthology DOID:0111253 neurofibromatosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1476 CAPN1 implicated_via_orthology DOID:0110821 hereditary spastic paraplegia 76 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2901 DLG2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6628 LLGL1 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20153 CHD8 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3086 DVL2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7648 NBEA implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33279 ATXN1L implicated_via_orthology DOID:1441 autosomal dominant cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:263 kidney cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23791 INF2 implicated_via_orthology DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23711 REEP3 implicated_via_orthology DOID:0110782 hereditary spastic paraplegia 31 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26909 HTRA4 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10588 SCN2A implicated_via_orthology DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3473 ESRRB implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44458 USP17L30 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19651 SMAP1 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9315 PPP3CB implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12649 VAPB implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6284 KCNMA1 implicated_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2902 DLG3 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11117 SMN1 implicated_via_orthology DOID:0060160 childhood spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18884 TDP1 implicated_via_orthology DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4037 FYN implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12508 UBQLN1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28868 IGF2BP3 implicated_via_orthology DOID:0060158 acquired metabolic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9011 PKD2L1 implicated_via_orthology DOID:0110859 polycystic kidney disease 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20779 NDST4 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21497 ACAD9 implicated_via_orthology DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14290 NLGN2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7973 NR2E1 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8977 PIK3CD implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15831 SSBP2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16704 SLC17A7 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24972 HCFC2 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3377 EPB41 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11990 TOP2B implicated_via_orthology DOID:2115 B cell deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA implicated_via_orthology DOID:0060537 mitochondrial complex II deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44453 USP17L24 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2649 CYP51A1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11100 SMARCA4 implicated_via_orthology DOID:0070046 Coffin-Siris syndrome 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18359 SERPINA12 implicated_via_orthology DOID:13372 alpha 1-antitrypsin deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27937 ESPNL implicated_via_orthology DOID:0110494 autosomal recessive nonsyndromic deafness 36 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12472 UBE2A implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20312 VPS36 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28883 PPA2 implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19264 SYT8 implicated_via_orthology DOID:439 neuromuscular junction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13818 SLC12A5 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6181 ITPR2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11950 TNNT3 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2557 CUX1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9761 RAB11B implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18862 KCNH6 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19057 CHD6 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10773 SFN implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10591 SCN4A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20068 USP42 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10527 SALL3 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18486 PDZD2 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26715 PROX2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11510 SYT2 implicated_via_orthology DOID:439 neuromuscular junction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3332 MARK2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10597 SCN9A implicated_via_orthology DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20197 SLC35C1 implicated_via_orthology DOID:0050571 congenital disorder of glycosylation type II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26053 THG1L implicated_via_orthology DOID:0050950 autosomal recessive cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44447 USP17L19 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4544 GRK5 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13433 ROBO3 implicated_via_orthology DOID:0060475 myoclonic-atonic epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10681 SDHB implicated_via_orthology DOID:0060537 mitochondrial complex II deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18514 SPART implicated_via_orthology DOID:0050886 Troyer syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7958 NPY5R implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1144 BTRC implicated_via_orthology DOID:1838 Menkes disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12712 VPS33B implicated_via_orthology DOID:0050763 ARC syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7908 NPHS1 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28866 IGF2BP1 implicated_via_orthology DOID:0060158 acquired metabolic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 implicated_via_orthology DOID:0080325 tuberous sclerosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15971 TSG101 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21168 RHOT1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10437 RPS6KB2 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 implicated_via_orthology DOID:0060475 myoclonic-atonic epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10979 SLC25A1 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1480 CAPN3 implicated_via_orthology DOID:0110821 hereditary spastic paraplegia 76 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2961 DYNC1H1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1736 CDC42 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:248 PLIN2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 implicated_via_orthology DOID:14566 disease of cellular proliferation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9552 PSMC5 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13664 MACF1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8997 PIP4K2A implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6182 ITPR3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26715 PROX2 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9642 PTPN1 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11754 TFEC implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15968 GDAP1 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6767 SMAD1 implicated_via_orthology DOID:0050787 juvenile polyposis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19347 CUX2 implicated_via_orthology DOID:2531 hematologic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9397 ZMYND8 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 implicated_via_orthology DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10702 SEC23B implicated_via_orthology DOID:0070307 craniolenticulosutural dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29914 NUP107 implicated_via_orthology DOID:14450 46 XX gonadal dysgenesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44454 USP17L26 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1237 UBQLN4 implicated_via_orthology DOID:0060206 amyotrophic lateral sclerosis type 15 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22474 MED13 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26825 YIPF7 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21481 LDHAL6B implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15446 PRPF31 implicated_via_orthology DOID:0110408 retinitis pigmentosa 11 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2422 CS implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9564 PSMD6 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17791 TBC1D8 implicated_via_orthology DOID:0070357 nephrotic syndrome type 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7908 NPHS1 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2946 DNAH17 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10850 SHMT1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9314 PPP3CA implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17341 TRNT1 implicated_via_orthology DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28335 LDHAL6A implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6629 LLGL2 implicated_via_orthology DOID:769 neuroblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 implicated_via_orthology DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2348 CREBBP implicated_via_orthology DOID:1933 Rubinstein-Taybi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3697 FGR implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11276 SPTBN2 implicated_via_orthology DOID:0050882 spinocerebellar ataxia type 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2287 COX7A1 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1090 DST implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 implicated_via_orthology DOID:14320 generalized anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1389 CACNA1B implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10817 SGPL1 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27309 DHFR2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1058 BLM implicated_via_orthology DOID:5688 Werner syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4816 HARS1 implicated_via_orthology DOID:0110842 Usher syndrome type 3B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23786 PIP4K2C implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11598 TBX20 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 implicated_via_orthology DOID:0060370 Parkinson's disease 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 implicated_via_orthology DOID:0080840 optic atrophy 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 implicated_via_orthology DOID:854 collagen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25575 ETNK2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28122 VPS25 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19071 ALYREF implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2901 DLG2 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30718 DNAJB13 implicated_via_orthology DOID:0081353 congenital myopathy 21 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23109 FAT4 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44205 MPC1L implicated_via_orthology DOID:0080363 mitochondrial pyruvate carrier deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9414 PRKG1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21326 SKOR1 implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12496 UBE3A implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16228 TRIB3 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9402 PRKCG implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9021 PKM implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16341 GNRHR2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5172 HR implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13487 VPS35 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11168 SNTB1 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7867 NOP2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13759 CYFIP1 implicated_via_orthology DOID:0060393 chromosome 15q11.2 deletion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16187 SLC52A3 implicated_via_orthology DOID:0050694 Brown-Vialetto-Van Laere syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37182 USP17L1 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14282 IRF2BPL implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33196 PLIN5 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9012 PKD2L2 implicated_via_orthology DOID:0110859 polycystic kidney disease 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8806 PDHA1 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:0080326 familial hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7567 MYH1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3508 EWSR1 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6514 LATS1 implicated_via_orthology DOID:0060072 benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1421 SLC25A20 implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19338 CDK19 implicated_via_orthology DOID:0112221 developmental and epileptic encephalopathy 87 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16268 PNPLA6 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6325 KIF5C implicated_via_orthology DOID:231 motor neuron disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21155 MYLIP implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:583 APC implicated_via_orthology DOID:0080409 familial adenomatous polyposis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16923 AGAP3 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4180 GBE1 implicated_via_orthology DOID:13268 porphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19358 ALG12 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 implicated_via_orthology DOID:535 sleep disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33196 PLIN5 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20974 ADGRL3 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10943 SLC1A5 implicated_via_orthology DOID:0050994 episodic ataxia type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17283 RIMS2 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A implicated_via_orthology DOID:0050951 hereditary ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3776 AFF2 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2287 COX7A1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB implicated_via_orthology DOID:422 congenital structural myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13358 MCOLN3 implicated_via_orthology DOID:3343 glycoproteinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37175 USP17L3 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9530 PSMA1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10064 TRIM3 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17151 ORC6 implicated_via_orthology DOID:0080514 Meier-Gorlin syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10596 SCN8A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11408 STK4 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2908 DLL1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6090 INSM1 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10469 RTN3 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23140 ANGPTL6 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11597 TBX2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4508 GPR52 implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24990 COA3 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9893 RBL1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1478 CAPN11 implicated_via_orthology DOID:0110821 hereditary spastic paraplegia 76 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11237 SPG7 implicated_via_orthology DOID:0110816 hereditary spastic paraplegia 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7680 NDST1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10467 RTN1 implicated_via_orthology DOID:0110765 hereditary spastic paraplegia 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18867 KCNU1 implicated_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12336 TRPC4 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14885 DNAJA4 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10895 VPS4B implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19440 SBDS implicated_via_orthology DOID:0060479 Shwachman-Diamond syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2900 DLG1 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20062 USP36 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10594 SCN7A implicated_via_orthology DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:263 kidney cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24649 ETNK1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16893 PLIN3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12337 TRPC5 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:38606 BECN2 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1479 CAPN2 implicated_via_orthology DOID:0110821 hereditary spastic paraplegia 76 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9404 PRKCI implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10436 RPS6KB1 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9783 RAB5A implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A implicated_via_orthology DOID:0111181 familial hemiplegic migraine 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM implicated_via_orthology DOID:0060246 MASA syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7798 NFKBIB implicated_via_orthology DOID:854 collagen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44449 USP17L21 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9304 PPP2R2A implicated_via_orthology DOID:1441 autosomal dominant cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6971 MDH2 implicated_via_orthology DOID:0080433 developmental and epileptic encephalopathy 51 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11577 TAFAZZIN implicated_via_orthology DOID:0050476 Barth syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28510 GLIS3 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28625 NDUFAF6 implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6183 ITSN1 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4113 GAK implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2985 DOC2A implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15529 NLGN4Y implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7711 NDUFS4 implicated_via_orthology DOID:0060536 mitochondrial complex I deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8010 NRXN3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:589 ATG5 implicated_via_orthology DOID:0050951 hereditary ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13206 TRAK2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29882 ISCU implicated_via_orthology DOID:699 mitochondrial myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21606 MPC1 implicated_via_orthology DOID:0080363 mitochondrial pyruvate carrier deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:659 ARF6 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20973 ADGRL1 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3084 DVL1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11817 TIMM8A implicated_via_orthology DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11948 TNNT1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11945 TNNI1 implicated_via_orthology DOID:299 adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16922 AGAP1 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10481 RYK implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:0080326 familial hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20289 CSNK1A1L implicated_via_orthology DOID:0060807 syndromic X-linked intellectual disability Najm type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3490 ETV1 implicated_via_orthology DOID:3312 bipolar disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1616 CCT3 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20340 PRICKLE2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7883 NOTCH3 implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10941 SLC1A3 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23467 AGAP5 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6762 MAD1L1 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11805 TIAM1 implicated_via_orthology DOID:0070354 cataract 48 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3570 ACSL3 implicated_via_orthology DOID:0050776 non-syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11602 TBX3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20310 GRTP1 implicated_via_orthology DOID:3369 Ewing sarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3697 FGR implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2290 COX7A2P2 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10432 RPS6KA3 implicated_via_orthology DOID:3783 Coffin-Lowry syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 implicated_via_orthology DOID:0050539 Charcot-Marie-Tooth disease type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:244 ADD2 implicated_via_orthology DOID:1969 cerebral palsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9403 PRKCH implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11818 TIMM8B implicated_via_orthology DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19304 SCAF4 implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 implicated_via_orthology DOID:2998 testicular cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12496 UBE3A implicated_via_orthology DOID:1932 Angelman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13312 GSTO1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30182 POTEKP implicated_via_orthology DOID:10486 intestinal atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14258 CD2AP implicated_via_orthology DOID:680 tauopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17282 RIMS1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12585 UQCRC1 implicated_via_orthology DOID:0060892 late onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6589 LHFPL3 implicated_via_orthology DOID:0110518 autosomal recessive nonsyndromic deafness 67 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP implicated_via_orthology DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9871 RASA1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6473 AFF3 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:0080326 familial hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29363 FHDC1 implicated_via_orthology DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6284 KCNMA1 implicated_via_orthology DOID:303 substance-related disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6954 MCPH1 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24565 KANSL1 implicated_via_orthology DOID:0050880 Koolen de Vries syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11947 TNNI3 implicated_via_orthology DOID:299 adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4588 GRIN2D implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10548 ATXN1 implicated_via_orthology DOID:1441 autosomal dominant cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B implicated_via_orthology DOID:896 metal metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA implicated_via_orthology DOID:0080377 peroxisomal biogenesis disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30022 PPARGC1B implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16183 RIMS4 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8598 PANK1 implicated_via_orthology DOID:3981 pantothenate kinase-associated neurodegeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44445 USP17L17 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1742 LRBA implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:89 ACADM implicated_via_orthology DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18867 KCNU1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53829 TPTEP2-CSNK1E implicated_via_orthology DOID:0060807 syndromic X-linked intellectual disability Najm type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10380 MRPS12 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10435 RPS6KA6 implicated_via_orthology DOID:3783 Coffin-Lowry syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32035 CNTNAP3B implicated_via_orthology DOID:0060308 autosomal recessive intellectual developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:3911 progeria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11946 TNNI2 implicated_via_orthology DOID:299 adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6645 PRICKLE3 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16867 RNF40 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1237 UBQLN4 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21166 RHEBL1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11098 SMARCA2 implicated_via_orthology DOID:0070046 Coffin-Siris syndrome 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16808 UBR1 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4765 H3-3B implicated_via_orthology DOID:0080684 diffuse midline glioma, H3 K27M-mutant ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44456 USP17L28 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3471 ESRRA implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28405 KMT5C implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11115 KDM5D implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16454 NMUR2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6614 LIMK2 implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6758 MAB21L2 implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1664 SCARB1 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4037 FYN implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24149 HES4 implicated_via_orthology DOID:3620 central nervous system cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20153 CHD8 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30025 PPRC1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10467 RTN1 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6284 KCNMA1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25133 MARS2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10011 RHEB implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12833 XRCC5 implicated_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15682 PHC3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6897 MARK3 implicated_via_orthology DOID:0070356 visual impairment and progressive phthisis bulbi ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9114 PMM1 implicated_via_orthology DOID:0080552 congenital disorder of glycosylation Ia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6299 KCNQ5 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21292 RIMS3 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44440 USP17L12 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10604 SCO2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8638 KAT2B implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN implicated_via_orthology DOID:12705 Friedreich ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26992 SPNS2 implicated_via_orthology DOID:1927 sphingolipidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16235 DNAJC5 implicated_via_orthology DOID:0110720 neuronal ceroid lipofuscinosis 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4706 GYS1 implicated_via_orthology DOID:3534 Lafora disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 implicated_via_orthology DOID:3911 progeria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:806 ATP1B3 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:620 APP implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21555 EYS implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11430 STX12 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6544 LDHC implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6093 INSRR implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17071 KDM4C implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27310 FLCN implicated_via_orthology DOID:0050676 Birt-Hogg-Dube syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17858 GPSM1 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8009 NRXN2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 implicated_via_orthology DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4198 GCM2 implicated_via_orthology DOID:11199 hypoparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 implicated_via_orthology DOID:0050427 xeroderma pigmentosum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2208 COL4A6 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B implicated_via_orthology DOID:0070044 Coffin-Siris syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7681 NDST2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:820 ATP4B implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 implicated_via_orthology DOID:0110859 polycystic kidney disease 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30260 PNPO implicated_via_orthology DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37176 USP17L4 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30046 PINX1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13867 SH3KBP1 implicated_via_orthology DOID:680 tauopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9306 PPP2R2C implicated_via_orthology DOID:1441 autosomal dominant cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2192 COL15A1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29825 MYL10 implicated_via_orthology DOID:0110316 hypertrophic cardiomyopathy 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12855 YWHAZ implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23732 PPP2R2D implicated_via_orthology DOID:1441 autosomal dominant cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14896 SPTBN4 implicated_via_orthology DOID:0050882 spinocerebellar ataxia type 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9316 PPP3CC implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16746 MBNL2 implicated_via_orthology DOID:11722 myotonic dystrophy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2195 COL18A1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 implicated_via_orthology DOID:0070045 Coffin-Siris syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7883 NOTCH3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21728 IRF2BP1 implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8996 PIP5K1C implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11169 SNTB2 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32151 ATAD3C implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33131 PSAPL1 implicated_via_orthology DOID:9455 lipid storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4925 HK3 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20092 ATF7IP implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2903 DLG4 implicated_via_orthology DOID:0060072 benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44452 USP17L25 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2902 DLG3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8998 PIP4K2B implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30580 SSH2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:4362 cervical cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9552 PSMC5 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9658 PTPN6 implicated_via_orthology DOID:0060578 Noonan syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11547 TAF15 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9194 POLR2G implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5294 HTR2B implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14307 LRRC1 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2195 COL18A1 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21606 MPC1 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10701 SEC23A implicated_via_orthology DOID:0070307 craniolenticulosutural dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8011 CNTNAP1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9537 PSMB1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 implicated_via_orthology DOID:0060038 specific developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19353 SIN3A implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12840 YARS1 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6896 MARK1 implicated_via_orthology DOID:0070356 visual impairment and progressive phthisis bulbi ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10591 SCN4A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13398 NSDHL implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10565 SCAMP3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7682 NDST3 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37181 USP17L8 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5026 HNF4G implicated_via_orthology DOID:0111099 maturity-onset diabetes of the young type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28433 SPNS3 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18669 PALS1 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9547 PSMC1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 implicated_via_orthology DOID:2998 testicular cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:819 ATP4A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12520 UFD1 implicated_via_orthology DOID:674 cleft palate ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA implicated_via_orthology DOID:12802 mucopolysaccharidosis I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30579 SSH1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 implicated_via_orthology DOID:0050427 xeroderma pigmentosum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20062 USP36 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4461 GPM6B implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2288 COX7A2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19894 TRAPPC1 implicated_via_orthology DOID:1909 melanoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14495 MRPS2 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4923 HK2 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25257 TMEM18 implicated_via_orthology DOID:14221 abdominal obesity-metabolic syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14287 NLGN4X implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R implicated_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10594 SCN7A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11406 STK3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 implicated_via_orthology DOID:14261 fragile X syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18261 NPLOC4 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30024 PEX5L implicated_via_orthology DOID:0080377 peroxisomal biogenesis disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2902 DLG3 implicated_via_orthology DOID:0060072 benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18863 KCNH7 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3183 PHC2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11513 SYT5 implicated_via_orthology DOID:439 neuromuscular junction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2711 DCTN1 implicated_via_orthology DOID:231 motor neuron disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8943 SERPINI1 implicated_via_orthology DOID:13372 alpha 1-antitrypsin deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4921 HIVEP2 implicated_via_orthology DOID:0050787 juvenile polyposis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11946 TNNI2 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29203 TBC1D24 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:175 ACVRL1 implicated_via_orthology DOID:13374 fibrodysplasia ossificans progressiva ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18747 CNTNAP4 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6514 LATS1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14307 LRRC1 implicated_via_orthology DOID:263 kidney cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30386 SCAMP5 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14491 MRPL40 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16893 PLIN3 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10978 SLC24A4 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12635 UTRN implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18401 RNF41 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A implicated_via_orthology DOID:0070042 Coffin-Siris syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2452 CSNK1D implicated_via_orthology DOID:0060807 syndromic X-linked intellectual disability Najm type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN implicated_via_orthology DOID:0111218 Friedreich ataxia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17539 INSM2 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2903 DLG4 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9803 RAC3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25567 ATAD3A implicated_via_orthology DOID:440 neuromuscular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4764 H3-3A implicated_via_orthology DOID:0080684 diffuse midline glioma, H3 K27M-mutant ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30621 SPNS1 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4817 HARS2 implicated_via_orthology DOID:0110842 Usher syndrome type 3B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13709 DEGS1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6251 KCNH2 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH implicated_via_orthology DOID:0050338 primary bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4317 GLI1 implicated_via_orthology DOID:0050338 primary bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17587 MTCH2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30581 SSH3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11193 SOX14 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37176 USP17L4 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4837 HCCS implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:0111602 distal arthrogryposis type 2B3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21296 EPS8L2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 implicated_via_orthology DOID:3620 central nervous system cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 implicated_via_orthology DOID:12217 Lewy body dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16873 FIG4 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6093 INSRR implicated_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12440 TYK2 implicated_via_orthology DOID:14566 disease of cellular proliferation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19041 COQ8B implicated_via_orthology DOID:0080391 nephrotic syndrome type 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7583 MYL2 implicated_via_orthology DOID:0110316 hypertrophic cardiomyopathy 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9565 PSMD7 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:144 ACTG1 implicated_via_orthology DOID:10486 intestinal atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12508 UBQLN1 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14291 NLGN1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:0080326 familial hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A implicated_via_orthology DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3718 FKBP2 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B implicated_via_orthology DOID:0070042 Coffin-Siris syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1711 ADGRE5 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:145 ACTG2 implicated_via_orthology DOID:10486 intestinal atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2986 DOC2B implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2207 COL4A5 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:0080326 familial hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8977 PIK3CD implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44457 USP17L29 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:888 KIF1A implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12508 UBQLN1 implicated_via_orthology DOID:0060206 amyotrophic lateral sclerosis type 15 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4421 GNRHR implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25198 SLC25A46 implicated_via_orthology DOID:0080068 Charcot-Marie-Tooth disease type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12651 VARS1 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11945 TNNI1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A implicated_via_orthology DOID:231 motor neuron disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20442 FBRS implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20842 FOXP4 implicated_via_orthology DOID:0060038 specific developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16921 AGAP2 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13529 CNPY2 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:890 mitochondrial encephalomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6296 KCNQ2 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17780 ACTBL2 implicated_via_orthology DOID:0081112 Baraitser-Winter syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20751 WDFY3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 implicated_via_orthology DOID:0060038 specific developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8855 PEX13 implicated_via_orthology DOID:906 peroxisomal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13357 MCOLN2 implicated_via_orthology DOID:3343 glycoproteinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14449 OPN4 implicated_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25953 ZNF280D implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18652 VPS54 implicated_via_orthology DOID:231 motor neuron disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44455 USP17L27 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44454 USP17L26 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:171 ACVR1 implicated_via_orthology DOID:13374 fibrodysplasia ossificans progressiva ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11753 TFEB implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26992 SPNS2 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24283 KMT5B implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10597 SCN9A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10526 SALL2 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16873 FIG4 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9785 RAB5C implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23109 FAT4 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18170 CMPK1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3040 RCAN1 implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6093 INSRR implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24042 WWTR1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19293 TPPP2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18867 KCNU1 implicated_via_orthology DOID:303 substance-related disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17327 WAC implicated_via_orthology DOID:0081126 DeSanto-Shinawi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44458 USP17L30 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4135 GALT implicated_via_orthology DOID:0111459 classic galactosemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4323 GLO1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14648 LETM2 implicated_via_orthology DOID:0050460 Wolf-Hirschhorn syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20509 ZC3H14 implicated_via_orthology DOID:0060308 autosomal recessive intellectual developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7681 NDST2 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3473 ESRRB implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4508 GPR52 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3954 FRG1 implicated_via_orthology DOID:11727 facioscapulohumeral muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1490 CAPZA2 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19057 CHD6 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:0111602 distal arthrogryposis type 2B3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12877 ZMPSTE24 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26974 PDZD8 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10590 SCN3A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30385 SCAMP4 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26176 REEP4 implicated_via_orthology DOID:0110782 hereditary spastic paraplegia 31 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12635 UTRN implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB implicated_via_orthology DOID:10486 intestinal atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31073 MYH15 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17944 EXOSC3 implicated_via_orthology DOID:0060266 pontocerebellar hypoplasia type 1B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18305 ATP6AP2 implicated_via_orthology DOID:0060309 syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7897 NPC1 implicated_via_orthology DOID:14504 Niemann-Pick disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4840 HCK implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:801 ATP1A3 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9509 PSEN2 implicated_via_orthology DOID:0060894 early-onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16812 COQ8A implicated_via_orthology DOID:0080391 nephrotic syndrome type 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 implicated_via_orthology DOID:0060038 specific developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21240 FRMD1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19041 COQ8B implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6629 LLGL2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17869 AFF4 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9552 PSMC5 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4572 GRIA2 implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19245 SNX18 implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10944 SLC1A6 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9330 PQBP1 implicated_via_orthology DOID:0060179 Renpenning syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1073 BMP6 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16262 YAP1 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19365 PANK3 implicated_via_orthology DOID:3981 pantothenate kinase-associated neurodegeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:855 ATP6V0C implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10007 RHBDL1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9012 PKD2L2 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29501 GPSM2 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:799 ATP1A1 implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15676 SSBP4 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17646 NGLY1 implicated_via_orthology DOID:0060728 NGLY1-deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8008 NRXN1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1493 CARS1 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7883 NOTCH3 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7448 MTM1 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11277 SPTLC1 implicated_via_orthology DOID:0050548 hereditary sensory neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3379 EPB41L2 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17328 DTNBP1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1590 CCNE2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A implicated_via_orthology DOID:12377 spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9542 PSMB5 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6757 MAB21L1 implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK implicated_via_orthology DOID:0050524 maturity-onset diabetes of the young ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6774 SMAD9 implicated_via_orthology DOID:0050787 juvenile polyposis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9395 PRKCB implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4023 FXR1 implicated_via_orthology DOID:14261 fragile X syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4571 GRIA1 implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9181 POLH implicated_via_orthology DOID:0050427 xeroderma pigmentosum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21166 RHEBL1 implicated_via_orthology DOID:13515 tuberous sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44450 USP17L22 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37181 USP17L8 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2850 DGKB implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5384 IDH3A implicated_via_orthology DOID:439 neuromuscular junction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44440 USP17L12 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7883 NOTCH3 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:341 AGXT implicated_via_orthology DOID:2977 primary hyperoxaluria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44457 USP17L29 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13816 ATP12A implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:129 ACTA1 implicated_via_orthology DOID:0081112 Baraitser-Winter syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16039 ANGPTL4 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9376 PRKAA1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9639 HACD1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10945 SLC1A7 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14073 ATP1A4 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6251 KCNH2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5387 IDI1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19353 SIN3A implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8877 PFKM implicated_via_orthology DOID:2747 glycogen storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10298 RPL10 implicated_via_orthology DOID:14789 spondyloepiphyseal dysplasia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16891 TRIB1 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25567 ATAD3A implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:0111602 distal arthrogryposis type 2B3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26310 KANSL1L implicated_via_orthology DOID:0050880 Koolen de Vries syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9640 HACD2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4135 GALT implicated_via_orthology DOID:9870 galactosemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16502 RHBDL3 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20779 NDST4 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26006 TTC19 implicated_via_orthology DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14884 DNAJA2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4198 GCM2 implicated_via_orthology DOID:5223 infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17286 EXOSC1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10590 SCN3A implicated_via_orthology DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20603 DHDDS implicated_via_orthology DOID:0110352 retinitis pigmentosa 59 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13081 SCAPER implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12669 VDAC1 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44446 USP17L18 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23459 AGAP4 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4476 GPR21 implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10604 SCO2 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24009 APOOL implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12336 TRPC4 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18423 DEPDC5 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6325 KIF5C implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2862 DHFRP1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13345 LPIN1 implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16268 PNPLA6 implicated_via_orthology DOID:1432 blindness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10914 SLC12A6 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24502 WDR62 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:805 ATP1B2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21606 MPC1 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A implicated_via_orthology DOID:0111099 maturity-onset diabetes of the young type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30406 HTRA3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11240 SPHK1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23375 GAPVD1 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11233 SPAST implicated_via_orthology DOID:0110792 hereditary spastic paraplegia 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3383 STOM implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8856 PEX14 implicated_via_orthology DOID:0080487 peroxisome biogenesis disorder 13A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3065 DUSP10 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11509 SYT1 implicated_via_orthology DOID:439 neuromuscular junction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10380 MRPS12 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12843 YME1L1 implicated_via_orthology DOID:0050861 colorectal adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6721 LTK implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 implicated_via_orthology DOID:0110735 neurodegeneration with brain iron accumulation 2a ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11118 SMN2 implicated_via_orthology DOID:0060160 childhood spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10583 SCN11A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6629 LLGL2 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:443 ALS2 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18608 LRRK1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30212 TANC2 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11503 SYNJ1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 implicated_via_orthology DOID:3911 progeria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20626 CHD7 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25762 MUL1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3493 ETV4 implicated_via_orthology DOID:3312 bipolar disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6735 LYN implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15674 SSBP3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10916 SLC13A1 implicated_via_orthology DOID:0050667 alcohol-related neurodevelopmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23733 PIPSL implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12337 TRPC5 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10380 MRPS12 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11504 SYNJ2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10917 SLC13A2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2953 DNAH9 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30182 POTEKP implicated_via_orthology DOID:0081112 Baraitser-Winter syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11633 TCF3 implicated_via_orthology DOID:0060488 Pitt-Hopkins syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30802 PNPLA2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37179 USP17L6P implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1497 CASK implicated_via_orthology DOID:0060309 syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2877 DIAPH2 implicated_via_orthology DOID:0060690 autosomal dominant auditory neuropathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6298 KCNQ4 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM implicated_via_orthology DOID:12704 ataxia telangiectasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18860 ASAH2 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19308 SDK2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37182 USP17L1 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4925 HK3 implicated_via_orthology DOID:0050524 maturity-onset diabetes of the young ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3336 ADGRE1 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6535 LDHA implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11152 SNRPA1 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A implicated_via_orthology DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 implicated_via_orthology DOID:0060900 Parkinson's disease 14 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19351 BICC1 implicated_via_orthology DOID:2975 cystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1589 CCNE1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9381 PRKACB implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14099 CNOT6 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24337 C1GALT1 implicated_via_orthology DOID:0060050 autoimmune disease of blood ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14886 DNAJB4 implicated_via_orthology DOID:0081353 congenital myopathy 21 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18010 GDAP2 implicated_via_orthology DOID:0111616 autosomal recessive spinocerebellar ataxia 27 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7673 NCOR2 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28867 IGF2BP2 implicated_via_orthology DOID:0060158 acquired metabolic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20968 RIOX1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14064 HDAC6 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24768 PNPLA7 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12843 YME1L1 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP implicated_via_orthology DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6254 KCNH5 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15827 SLC13A4 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6897 MARK3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13816 ATP12A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:245 ADD3 implicated_via_orthology DOID:1969 cerebral palsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9380 PRKACA implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL implicated_via_orthology DOID:14175 von Hippel-Lindau disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14887 DNAJB5 implicated_via_orthology DOID:0081353 congenital myopathy 21 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11947 TNNI3 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6556 LETM1 implicated_via_orthology DOID:0050460 Wolf-Hirschhorn syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:88 ACADL implicated_via_orthology DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 implicated_via_orthology DOID:0080326 familial hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44443 USP17L15 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30220 RFT1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14450 LPIN2 implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4920 HIVEP1 implicated_via_orthology DOID:0050787 juvenile polyposis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15750 DSTN implicated_via_orthology DOID:0110934 nemaline myopathy 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21042 NUS1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19057 CHD6 implicated_via_orthology DOID:0050834 CHARGE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11275 SPTBN1 implicated_via_orthology DOID:0050882 spinocerebellar ataxia type 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24877 YIPF5 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4543 GRK4 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10064 TRIM3 implicated_via_orthology DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29175 WDTC1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44455 USP17L27 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4923 HK2 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2451 CSNK1A1 implicated_via_orthology DOID:0060807 syndromic X-linked intellectual disability Najm type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:646 ARAF implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33537 TNFSF12-TNFSF13 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 implicated_via_orthology DOID:0080326 familial hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2529 CTSD implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6524 LCK implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30377 SCRIB implicated_via_orthology DOID:263 kidney cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1057 BLK implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5213 HSD17B4 implicated_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15460 CACNA2D3 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6524 LCK implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11442 STX7 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3494 ETV5 implicated_via_orthology DOID:3312 bipolar disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16909 NDC80 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9784 RAB5B implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14430 SLC13A3 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30377 SCRIB implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11957 MED12 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23089 SLC13A5 implicated_via_orthology DOID:0050667 alcohol-related neurodevelopmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9115 PMM2 implicated_via_orthology DOID:0080552 congenital disorder of glycosylation Ia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1094 BPHL implicated_via_orthology DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18624 FKBP11 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7224 MPV17 implicated_via_orthology DOID:0111559 Charcot-Marie-Tooth disease type 2EE ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12472 UBE2A implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30661 UBA2 implicated_via_orthology DOID:2531 hematologic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13561 HIVEP3 implicated_via_orthology DOID:0050787 juvenile polyposis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3311 SERPINB1 implicated_via_orthology DOID:13372 alpha 1-antitrypsin deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12730 WARS2 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9719 PEX5 implicated_via_orthology DOID:0080377 peroxisomal biogenesis disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15894 PANK2 implicated_via_orthology DOID:3981 pantothenate kinase-associated neurodegeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9965 RERE implicated_via_orthology DOID:0060162 dentatorubral-pallidoluysian atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29567 ACSBG1 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6184 ITSN2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3085 DVL1P1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25082 SMAP2 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1485 CAPN8 implicated_via_orthology DOID:0110821 hereditary spastic paraplegia 76 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20692 TPH2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3474 ESRRG implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30778 GATAD2B implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10939 SLC1A1 implicated_via_orthology DOID:0050994 episodic ataxia type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1778 CDK7 implicated_via_orthology DOID:0050593 primary congenital glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4840 HCK implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2849 DGKA implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1237 UBQLN4 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9107 PLXND1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1618 CCT5 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18294 ALG1 implicated_via_orthology DOID:5212 congenital disorder of glycosylation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11115 KDM5D implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24162 TPPP3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23056 ALG3 implicated_via_orthology DOID:5212 congenital disorder of glycosylation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH implicated_via_orthology DOID:0050338 primary bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6613 LIMK1 implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30809 TRIB2 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:813 ATP2A3 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10591 SCN4A implicated_via_orthology DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4227 GDI2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3042 RCAN3 implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19743 POMT2 implicated_via_orthology DOID:0050560 Walker-Warburg syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6093 INSRR implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44205 MPC1L implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:620 APP implicated_via_orthology DOID:0080348 Alzheimer's disease 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18748 CNTNAP5 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3182 PHC1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11109 SMARCE1 implicated_via_orthology DOID:1508 candidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8857 PEX16 implicated_via_orthology DOID:905 Zellweger syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 implicated_via_orthology DOID:10017 multiple endocrine neoplasia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19347 CUX2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9226 PPA1 implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2192 COL15A1 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18469 ZDHHC2 implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7224 MPV17 implicated_via_orthology DOID:0080125 mitochondrial DNA depletion syndrome 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12509 UBQLN2 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4458 GPI implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11442 STX7 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A implicated_via_orthology DOID:2742 auditory system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6872 MAPK10 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4382 GNA14 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18599 TUBGCP2 implicated_via_orthology DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2865 DHH implicated_via_orthology DOID:0050338 primary bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19041 COQ8B implicated_via_orthology DOID:0050730 coenzyme Q10 deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8994 PIP5K1A implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2900 DLG1 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20217 EXD2 implicated_via_orthology DOID:5688 Werner syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19088 ASH1L implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1874 CFL1 implicated_via_orthology DOID:0110934 nemaline myopathy 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9076 PLIN1 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:799 ATP1A1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4431 GOSR2 implicated_via_orthology DOID:891 progressive myoclonus epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5724 RBPJ implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS implicated_via_orthology DOID:263 kidney cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:34434 USP17L2 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30377 SCRIB implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12472 UBE2A implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11111 SMC1A implicated_via_orthology DOID:0080506 Cornelia de Lange syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10916 SLC13A1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4162 GARS1 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9459 PROX1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11171 SNURF implicated_via_orthology DOID:680 tauopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11153 SNRPB implicated_via_orthology DOID:680 tauopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7682 NDST3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9545 PSMB8 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11985 TOMM70 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3642 FDXR implicated_via_orthology DOID:2742 auditory system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30958 ZNF622 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16262 YAP1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14418 ELOVL1 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6763 MAD2L1 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6128 IRS4 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8858 PEX3 implicated_via_orthology DOID:905 Zellweger syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7135 AFF1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30660 SAE1 implicated_via_orthology DOID:2531 hematologic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14656 DSCAML1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10913 SLC12A4 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6515 LATS2 implicated_via_orthology DOID:0060072 benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18039 KDM5B implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9007 PIWIL1 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10594 SCN7A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24515 MPC2 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2548 CUBN implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29364 TANC1 implicated_via_orthology DOID:0060037 developmental disorder of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4573 GRIA3 implicated_via_orthology DOID:331 central nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7571 MYH13 implicated_via_orthology DOID:0111602 distal arthrogryposis type 2B3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:427 ALK implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30224 SLC52A2 implicated_via_orthology DOID:0050694 Brown-Vialetto-Van Laere syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB implicated_via_orthology DOID:3191 nemaline myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17877 NMNAT1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:44441 USP17L13 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14085 RTN4 implicated_via_orthology DOID:0110765 hereditary spastic paraplegia 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11990 TOP2B implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25319 SLC25A31 implicated_via_orthology DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18967 EDEM1 implicated_via_orthology DOID:1485 cystic fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:129 ACTA1 implicated_via_orthology DOID:13099 Moyamoya disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3267 EIF2S3 implicated_via_orthology DOID:10579 leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4180 GBE1 implicated_via_orthology DOID:2750 glycogen storage disease IV ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19977 RDH12 implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30859 SNRNP200 implicated_via_orthology DOID:0110366 retinitis pigmentosa 33 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10683 SDHD implicated_via_orthology DOID:0050773 paraganglioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19421 ING5 implicated_via_orthology DOID:1749 squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12410 TUBA8 implicated_via_orthology DOID:0112232 lissencephaly 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12410 TUBA8 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11124 SUMO3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12814 XPA implicated_via_orthology DOID:0110843 xeroderma pigmentosum group A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31789 ATP13A5 implicated_via_orthology DOID:0060893 juvenile-onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3250 EIF1AX implicated_via_orthology DOID:6039 uveal melanoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30740 TARS2 implicated_via_orthology DOID:9252 amino acid metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24948 DOT1L implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14583 VPS11 implicated_via_orthology DOID:0060796 hypomyelinating leukodystrophy 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16812 COQ8A implicated_via_orthology DOID:0080391 nephrotic syndrome type 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20771 TUBB4B implicated_via_orthology DOID:0060260 ptosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18481 ATP6V0A2 implicated_via_orthology DOID:14219 renal tubular acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1613 CCS implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9119 PMPCB implicated_via_orthology DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8999 PISD implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12017 TPR implicated_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:143 ACTC1 implicated_via_orthology DOID:13099 Moyamoya disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11474 SURF1 implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12412 TUBB2A implicated_via_orthology DOID:0090132 complex cortical dysplasia with other brain malformations 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:854 ATP6V1B2 implicated_via_orthology DOID:14219 renal tubular acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4208 GCSH implicated_via_orthology DOID:9268 glycine encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7448 MTM1 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25223 COQ2 implicated_via_orthology DOID:0070238 primary coenzyme Q10 deficiency 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10982 SLC25A12 implicated_via_orthology DOID:1852 intrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31103 PFN4 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8750 CDK17 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5255 HSP90AA4P implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16257 TUBB1 implicated_via_orthology DOID:0112227 tubulinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3192 EEF1A2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 implicated_via_orthology DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR implicated_via_orthology DOID:12704 ataxia telangiectasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:865 ATP6V0A1 implicated_via_orthology DOID:0110942 autosomal recessive osteopetrosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14198 ELAC2 implicated_via_orthology DOID:0111753 infantile hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13164 CNBP implicated_via_orthology DOID:0050759 myotonic dystrophy type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:43863 EIF2S3B implicated_via_orthology DOID:0060801 MEHMO syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7449 MTMR1 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5386 IDH3G implicated_via_orthology DOID:0050709 early infantile epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9816 RAD50 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10898 SKIC2 implicated_via_orthology DOID:0111416 trichohepatoenteric syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24824 FZR1 implicated_via_orthology DOID:14566 disease of cellular proliferation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19978 RDH13 implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24983 TUBB8B implicated_via_orthology DOID:0090132 complex cortical dysplasia with other brain malformations 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:66 ABCD2 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18809 TUBA1B implicated_via_orthology DOID:0112234 microlissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19986 CYCS implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7532 MX1 implicated_via_orthology DOID:0111223 centronuclear myopathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15867 YTHDF1 implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12840 YARS1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12651 VARS1 implicated_via_orthology DOID:0060475 myoclonic-atonic epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:43863 EIF2S3B implicated_via_orthology DOID:9406 hypopituitarism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33148 SUMO1P1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26053 THG1L implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23594 VPS13C implicated_via_orthology DOID:0050766 choreaacanthocytosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7728 NEDD4L implicated_via_orthology DOID:0050477 Liddle syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1778 CDK7 implicated_via_orthology DOID:0110965 brachydactyly type A2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:129 ACTA1 implicated_via_orthology DOID:13832 patent ductus arteriosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:61 ABCD1 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3570 ACSL3 implicated_via_orthology DOID:14501 Sjogren-Larsson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2939 DNA2 implicated_via_orthology DOID:0070009 Seckel syndrome 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23141 TRMT5 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12017 TPR implicated_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10702 SEC23B implicated_via_orthology DOID:5325 Roberts syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17286 EXOSC1 implicated_via_orthology DOID:0112331 pontocerebellar hypoplasia type 1F ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:48 ABCB7 implicated_via_orthology DOID:0050554 X-linked sideroblastic anemia with ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3189 EEF1A1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8876 PFKL implicated_via_orthology DOID:2747 glycogen storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30596 PIGZ implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1915 CHD1 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18025 COA6 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23594 VPS13C implicated_via_orthology DOID:0111590 Cohen syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3265 EIF2S1 implicated_via_orthology DOID:10579 leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:61 ABCD1 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30829 TUBB2B implicated_via_orthology DOID:0060260 ptosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14887 DNAJB5 implicated_via_orthology DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16808 UBR1 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1778 CDK7 implicated_via_orthology DOID:10825 essential hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13211 ATP2C1 implicated_via_orthology DOID:0050429 Hailey-Hailey disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:5750 endometrial serous adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12407 TUBA4A implicated_via_orthology DOID:0080918 polymicrogyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18884 TDP1 implicated_via_orthology DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17944 EXOSC3 implicated_via_orthology DOID:0060266 pontocerebellar hypoplasia type 1B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21022 AARS2 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17083 RRS1 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2961 DYNC1H1 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25187 TAMM41 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10985 SLC25A15 implicated_via_orthology DOID:0050720 ornithine translocase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25422 ATP13A4 implicated_via_orthology DOID:0060556 Kufor-Rakeb syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:2394 ovarian cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9467 PRPSAP2 implicated_via_orthology DOID:0050566 X-linked nonsyndromic deafness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS implicated_via_orthology DOID:9263 homocystinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13549 ATP10D implicated_via_orthology DOID:0070221 progressive familial intrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3267 EIF2S3 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17097 EXOSC2 implicated_via_orthology DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5228 DNAJB2 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23068 TRAPPC2 implicated_via_orthology DOID:14789 spondyloepiphyseal dysplasia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16873 FIG4 implicated_via_orthology DOID:0110184 Charcot-Marie-Tooth disease type 4J ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28326 DHRS13 implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19129 PSAT1 implicated_via_orthology DOID:0050723 PSAT deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1917 CHD2 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9466 PRPSAP1 implicated_via_orthology DOID:0050566 X-linked nonsyndromic deafness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16825 MTMR8 implicated_via_orthology DOID:0111225 centronuclear myopathy X-linked ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30348 POLR3B implicated_via_orthology DOID:0060786 hypomyelinating leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A implicated_via_orthology DOID:12377 spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8883 CDK14 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10983 SLC25A13 implicated_via_orthology DOID:9273 citrullinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3267 EIF2S3 implicated_via_orthology DOID:0060801 MEHMO syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20766 TUBA1A implicated_via_orthology DOID:0112232 lissencephaly 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20773 TUBB8 implicated_via_orthology DOID:0060260 ptosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24113 ATP13A3 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24986 DNAJB7 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13543 ATP10B implicated_via_orthology DOID:0070221 progressive familial intrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12408 TUBA3C implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17976 RPL10L implicated_via_orthology DOID:5603 T-cell acute lymphoblastic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16257 TUBB1 implicated_via_orthology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10983 SLC25A13 implicated_via_orthology DOID:4137 common bile duct disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1722 CDK1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3267 EIF2S3 implicated_via_orthology DOID:9406 hypopituitarism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10768 SF3B1 implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37258 ALG1L2 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18809 TUBA1B implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7449 MTMR1 implicated_via_orthology DOID:0111225 centronuclear myopathy X-linked ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25422 ATP13A4 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20 AARS1 implicated_via_orthology DOID:10223 dermatomyositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:853 ATP6V1B1 implicated_via_orthology DOID:0050873 follicular lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16066 ACER3 implicated_via_orthology DOID:10579 leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20772 TUBB3 implicated_via_orthology DOID:13934 facial paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2022 CLCN4 implicated_via_orthology DOID:0050699 Dent disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14596 MTMR9 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30220 RFT1 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26033 PUS7 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20738 SYVN1 implicated_via_orthology DOID:13372 alpha 1-antitrypsin deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19421 ING5 implicated_via_orthology DOID:1909 melanoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:118 ACO2 implicated_via_orthology DOID:1891 optic nerve disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4551 TECR implicated_via_orthology DOID:0050889 non-syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10298 RPL10 implicated_via_orthology DOID:12849 autistic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16257 TUBB1 implicated_via_orthology DOID:0060260 ptosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26220 PIF1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12401 TTK implicated_via_orthology DOID:3312 bipolar disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2022 CLCN4 implicated_via_orthology DOID:13533 osteopetrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20766 TUBA1A implicated_via_orthology DOID:0080918 polymicrogyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 implicated_via_orthology DOID:8712 neurofibromatosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27230 ESCO2 implicated_via_orthology DOID:5325 Roberts syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10604 SCO2 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14891 DNAJB12 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25575 ETNK2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8068 NUP98 implicated_via_orthology DOID:9119 acute myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7454 MTMR7 implicated_via_orthology DOID:0111225 centronuclear myopathy X-linked ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26164 NAA16 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8957 PIGA implicated_via_orthology DOID:0060284 paroxysmal nocturnal hemoglobinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13486 USP27X implicated_via_orthology DOID:3068 glioblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10298 RPL10 implicated_via_orthology DOID:0060807 syndromic X-linked intellectual disability Najm type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:838 ATP5F1E implicated_via_orthology DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20768 TUBA1C implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2961 DYNC1H1 implicated_via_orthology DOID:0050557 congenital muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12408 TUBA3C implicated_via_orthology DOID:0080918 polymicrogyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19440 SBDS implicated_via_orthology DOID:0110731 neuronal ceroid lipofuscinosis 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 implicated_via_orthology DOID:1485 cystic fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4693 GUK1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25725 WDR75 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10991 SLC25A5 implicated_via_orthology DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25527 ANKZF1 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12877 ZMPSTE24 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8490 ORC4 implicated_via_orthology DOID:0060306 Meier-Gorlin syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1442 CALM1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4162 GARS1 implicated_via_orthology DOID:0110164 Charcot-Marie-Tooth disease type 2D ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17286 EXOSC1 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3252 EIF1AY implicated_via_orthology DOID:6039 uveal melanoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20768 TUBA1C implicated_via_orthology DOID:0112232 lissencephaly 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14888 DNAJB6 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12649 VAPB implicated_via_orthology DOID:0050752 amyotrophic lateral sclerosis type 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11989 TOP2A implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5037 HNRNPDL implicated_via_orthology DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12412 TUBB2A implicated_via_orthology DOID:13934 facial paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23086 USP51 implicated_via_orthology DOID:3068 glioblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19261 MTO1 implicated_via_orthology DOID:0050563 nonsyndromic deafness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:1540 parathyroid carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13542 ATP10A implicated_via_orthology DOID:0070221 progressive familial intrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18809 TUBA1B implicated_via_orthology DOID:0080918 polymicrogyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20233 COQ6 implicated_via_orthology DOID:0070243 primary coenzyme Q10 deficiency 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8574 PAFAH1B1 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 implicated_via_orthology DOID:0111253 neurofibromatosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6898 MARS1 implicated_via_orthology DOID:12120 pulmonary alveolar proteinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2974 DNM2 implicated_via_orthology DOID:0111223 centronuclear myopathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12621 USP22 implicated_via_orthology DOID:3068 glioblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11327 SSRP1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8896 PGK1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28072 LYRM7 implicated_via_orthology DOID:0080117 mitochondrial complex III deficiency nuclear type 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:589 ATG5 implicated_via_orthology DOID:0080259 autosomal recessive spinocerebellar ataxia 25 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2961 DYNC1H1 implicated_via_orthology DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:145 ACTG2 implicated_via_orthology DOID:13099 Moyamoya disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:668 RHOB implicated_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21022 AARS2 implicated_via_orthology DOID:10223 dermatomyositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7452 MTMR4 implicated_via_orthology DOID:0111225 centronuclear myopathy X-linked ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17780 ACTBL2 implicated_via_orthology DOID:14004 thoracic aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21752 SDHAF3 implicated_via_orthology DOID:0060537 mitochondrial complex II deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14587 ING3 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29882 ISCU implicated_via_orthology DOID:699 mitochondrial myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9068 PLD2 implicated_via_orthology DOID:0080633 developmental cardiac valvular defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2939 DNA2 implicated_via_orthology DOID:0050569 Seckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:144 ACTG1 implicated_via_orthology DOID:14004 thoracic aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23594 VPS13C implicated_via_orthology DOID:0060896 Parkinson's disease 23 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33721 ALG1L1P implicated_via_orthology DOID:0080563 congenital disorder of glycosylation Ik ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20422 POLR1D implicated_via_orthology DOID:10579 leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12412 TUBB2A implicated_via_orthology DOID:0112227 tubulinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11035 SLC4A9 implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23141 TRMT5 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20773 TUBB8 implicated_via_orthology DOID:0112227 tubulinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 implicated_via_orthology DOID:2962 Cockayne syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3257 EIF2B1 implicated_via_orthology DOID:0060868 leukoencephalopathy with vanishing white matter ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20286 TRIT1 implicated_via_orthology DOID:0111464 combined oxidative phosphorylation deficiency 35 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8877 PFKM implicated_via_orthology DOID:2747 glycogen storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20776 TUBB6 implicated_via_orthology DOID:13934 facial paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18028 OSGEP implicated_via_orthology DOID:0060879 primary hypomagnesemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1801 CDS2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:0111755 Leber hereditary optic neuropathy and dystonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11551 BRF1 implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14587 ING3 implicated_via_orthology DOID:1909 melanoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12651 VARS1 implicated_via_orthology DOID:890 mitochondrial encephalomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11572 TARS1 implicated_via_orthology DOID:9252 amino acid metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24983 TUBB8B implicated_via_orthology DOID:0060260 ptosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12840 YARS1 implicated_via_orthology DOID:870 neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3642 FDXR implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30859 SNRNP200 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2972 DNM1 implicated_via_orthology DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29561 ARV1 implicated_via_orthology DOID:0080417 developmental and epileptic encephalopathy 38 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9889 RBBP6 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29323 WDFY4 implicated_via_orthology DOID:2935 Chediak-Higashi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B implicated_via_orthology DOID:0111272 occipital horn syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25422 ATP13A4 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:817 ATP2B4 implicated_via_orthology DOID:0050429 Hailey-Hailey disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1452 CALML3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26937 TRIAP1 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2740 DDX17 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11099 HLTF implicated_via_orthology DOID:3119 gastrointestinal system cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7224 MPV17 implicated_via_orthology DOID:0080125 mitochondrial DNA depletion syndrome 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19423 ING4 implicated_via_orthology DOID:1909 melanoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13785 MRS2 implicated_via_orthology DOID:0050476 Barth syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20776 TUBB6 implicated_via_orthology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10983 SLC25A13 implicated_via_orthology DOID:1852 intrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21289 UBR2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31749 ZCCHC13 implicated_via_orthology DOID:0050759 myotonic dystrophy type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4395 GNAZ implicated_via_orthology DOID:1858 McCune Albright syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2973 DNM1L implicated_via_orthology DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:815 ATP2B2 implicated_via_orthology DOID:0050429 Hailey-Hailey disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10986 SLC25A16 implicated_via_orthology DOID:12361 Graves' disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24983 TUBB8B implicated_via_orthology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1800 CDS1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3700 FH implicated_via_orthology DOID:5138 leiomyomatosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2699 DDX3Y implicated_via_orthology DOID:3869 childhood medulloblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4384 GNAI1 implicated_via_orthology DOID:1858 McCune Albright syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28107 PPCDC implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19903 RRAGD implicated_via_orthology DOID:0050873 follicular lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10447 RRAS implicated_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10980 SLC25A10 implicated_via_orthology DOID:0060536 mitochondrial complex I deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2740 DDX17 implicated_via_orthology DOID:0060611 abdominal obesity-metabolic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10603 SCO1 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB implicated_via_orthology DOID:0110550 autosomal dominant nonsyndromic deafness 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1058 BLM implicated_via_orthology DOID:2717 Bloom syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1618 CCT5 implicated_via_orthology DOID:0110132 Bardet-Biedl syndrome 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10992 SLC25A6 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1445 CALM2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9283 PPP1CC implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18025 COA6 implicated_via_orthology DOID:0050713 COX deficiency, infantile mitochondrial myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3258 EIF2B2 implicated_via_orthology DOID:0060868 leukoencephalopathy with vanishing white matter ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22921 SLC25A2 implicated_via_orthology DOID:0050720 ornithine translocase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30182 POTEKP implicated_via_orthology DOID:0110550 autosomal dominant nonsyndromic deafness 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17316 TIMM44 implicated_via_orthology DOID:8161 thyroid gland Hurthle cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9467 PRPSAP2 implicated_via_orthology DOID:0050647 Arts syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11111 SMC1A implicated_via_orthology DOID:0080506 Cornelia de Lange syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20766 TUBA1A implicated_via_orthology DOID:0112234 microlissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24658 GPATCH1 implicated_via_orthology DOID:0111446 progressive myoclonus epilepsy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9759 RAB10 implicated_via_orthology DOID:0060247 Smith-McCort dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19907 UBE2R2 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18344 HINT2 implicated_via_orthology DOID:0050526 Gamstorp-Wohlfart syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20778 TUBB implicated_via_orthology DOID:0112227 tubulinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10663 NEMF implicated_via_orthology DOID:440 neuromuscular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:130 ACTA2 implicated_via_orthology DOID:0110550 autosomal dominant nonsyndromic deafness 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10683 SDHD implicated_via_orthology DOID:0050773 paraganglioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11030 SLC4A4 implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9928 RBX1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30782 NAA15 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7530 MVK implicated_via_orthology DOID:0050452 mevalonic aciduria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30078 REEP6 implicated_via_orthology DOID:0110782 hereditary spastic paraplegia 31 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7452 MTMR4 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3192 EEF1A2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2649 CYP51A1 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19440 SBDS implicated_via_orthology DOID:0060479 Shwachman-Diamond syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 implicated_via_orthology DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3297 EIF4G2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17018 SEC23IP implicated_via_orthology DOID:0110806 hereditary spastic paraplegia 54 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK implicated_via_orthology DOID:13317 hyperinsulinemic hypoglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1908 VPS13A implicated_via_orthology DOID:0050766 choreaacanthocytosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18028 OSGEP implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2769 DENR implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:145 ACTG2 implicated_via_orthology DOID:13832 patent ductus arteriosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7224 MPV17 implicated_via_orthology DOID:0080121 mitochondrial DNA depletion syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A implicated_via_orthology DOID:0111272 occipital horn syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12482 UBE2G1 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9762 RAB13 implicated_via_orthology DOID:0060247 Smith-McCort dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28862 NIPBL implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30829 TUBB2B implicated_via_orthology DOID:0090132 complex cortical dysplasia with other brain malformations 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20290 CAB39L implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16438 SLC4A11 implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17780 ACTBL2 implicated_via_orthology DOID:0110550 autosomal dominant nonsyndromic deafness 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:43863 EIF2S3B implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:343 AHCY implicated_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17340 PRPF8 implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9356 PREB implicated_via_orthology DOID:0050577 cranioectodermal dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA implicated_via_orthology DOID:9253 gastrointestinal stromal tumor ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13254 FTSJ1 implicated_via_orthology DOID:0050776 non-syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37216 LIPT2 implicated_via_orthology DOID:9268 glycine encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21335 SNX13 implicated_via_orthology DOID:0080066 autosomal recessive spinocerebellar ataxia 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2972 DNM1 implicated_via_orthology DOID:11252 microcytic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20292 CAB39 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:854 ATP6V1B2 implicated_via_orthology DOID:0050873 follicular lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20776 TUBB6 implicated_via_orthology DOID:0112227 tubulinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19217 THADA implicated_via_orthology DOID:0050776 non-syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:410 ALDH3B1 implicated_via_orthology DOID:14501 Sjogren-Larsson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6159 EIF6 implicated_via_orthology DOID:0060479 Shwachman-Diamond syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18399 DHRSX implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 implicated_via_orthology DOID:0111340 dominant optic atrophy plus syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10298 RPL10 implicated_via_orthology DOID:5603 T-cell acute lymphoblastic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9387 PRKAG3 implicated_via_orthology DOID:0090101 lethal congenital glycogen storage disease of heart ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14886 DNAJB4 implicated_via_orthology DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11034 SLC4A8 implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1908 VPS13A implicated_via_orthology DOID:0050753 cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3511 EXO1 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26054 SLC25A38 implicated_via_orthology DOID:8955 sideroblastic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21752 SDHAF3 implicated_via_orthology DOID:0050771 pheochromocytoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:866 ATP6V0A4 implicated_via_orthology DOID:14219 renal tubular acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5259 HSP90AB3P implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20604 DIS3 implicated_via_orthology DOID:9538 multiple myeloma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12407 TUBA4A implicated_via_orthology DOID:0112234 microlissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30551 TXNL4A implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5256 HSP90AA2P implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1615 CCT2 implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33179 EIF4E1B implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1908 VPS13A implicated_via_orthology DOID:0111611 autosomal recessive spinocerebellar ataxia 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21020 QRSL1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10710 TRAPPC2B implicated_via_orthology DOID:14789 spondyloepiphyseal dysplasia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18174 STK26 implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23168 FANCM implicated_via_orthology DOID:13636 Fanconi anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10447 RRAS implicated_via_orthology DOID:0050469 Costello syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:816 ATP2B3 implicated_via_orthology DOID:0050429 Hailey-Hailey disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12840 YARS1 implicated_via_orthology DOID:070355 multisystem proteinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23141 TRMT5 implicated_via_orthology DOID:3650 lactic acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:118 ACO2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11647 TCIRG1 implicated_via_orthology DOID:14219 renal tubular acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16825 MTMR8 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 implicated_via_orthology DOID:0050977 spinocerebellar ataxia type 28 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17286 EXOSC1 implicated_via_orthology DOID:11343 scleral disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12482 UBE2G1 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2746 DDX5 implicated_via_orthology DOID:0060611 abdominal obesity-metabolic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20751 WDFY3 implicated_via_orthology DOID:2935 Chediak-Higashi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 implicated_via_orthology DOID:0050427 xeroderma pigmentosum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19943 TRAPPC4 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7532 MX1 implicated_via_orthology DOID:0112202 developmental and epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29679 PAM16 implicated_via_orthology DOID:2256 osteochondrodysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB implicated_via_orthology DOID:13832 patent ductus arteriosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:406 ALDH4A1 implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9552 PSMC5 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3189 EEF1A1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24983 TUBB8B implicated_via_orthology DOID:13934 facial paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 implicated_via_orthology DOID:1485 cystic fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25608 VPS53 implicated_via_orthology DOID:0060271 pontocerebellar hypoplasia type 2E ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21022 AARS2 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24071 TUBA3D implicated_via_orthology DOID:0080918 polymicrogyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2690 DBI implicated_via_orthology DOID:1287 cardiovascular system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4925 HK3 implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8959 PIGB implicated_via_orthology DOID:10112 sleeping sickness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9551 PSMC4 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:34026 ATP5F1EP2 implicated_via_orthology DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB implicated_via_orthology DOID:14004 thoracic aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17715 ACBD7 implicated_via_orthology DOID:1287 cardiovascular system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11125 SUMO2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3642 FDXR implicated_via_orthology DOID:5723 optic atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17095 LARS2 implicated_via_orthology DOID:0050857 Perrault syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25789 EFL1 implicated_via_orthology DOID:0060479 Shwachman-Diamond syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17663 PITRM1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR implicated_via_orthology DOID:0060060 non-Hodgkin lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7532 MX1 implicated_via_orthology DOID:11252 microcytic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12009 TPI1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37258 ALG1L2 implicated_via_orthology DOID:0080563 congenital disorder of glycosylation Ik ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23056 ALG3 implicated_via_orthology DOID:0080556 congenital disorder of glycosylation Id ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B implicated_via_orthology DOID:12377 spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22210 ATXN7L1 implicated_via_orthology DOID:0050958 spinocerebellar ataxia type 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:403 ALDH3A2 implicated_via_orthology DOID:14501 Sjogren-Larsson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30213 ATP13A2 implicated_via_orthology DOID:0060893 juvenile-onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5275 KAT5 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3571 ACSL4 implicated_via_orthology DOID:14501 Sjogren-Larsson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17271 RRAS2 implicated_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12410 TUBA8 implicated_via_orthology DOID:0112234 microlissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10982 SLC25A12 implicated_via_orthology DOID:4137 common bile duct disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20771 TUBB4B implicated_via_orthology DOID:0090132 complex cortical dysplasia with other brain malformations 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2974 DNM2 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2260 COX10 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30273 RAB8B implicated_via_orthology DOID:0060247 Smith-McCort dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12731 WAS implicated_via_orthology DOID:9169 Wiskott-Aldrich syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:144 ACTG1 implicated_via_orthology DOID:13832 patent ductus arteriosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5215 HSD17B7 implicated_via_orthology DOID:1701 steroid inherited metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2898 DLD implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30858 EFTUD2 implicated_via_orthology DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2745 DDX3X implicated_via_orthology DOID:3869 childhood medulloblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25538 DARS2 implicated_via_orthology DOID:10579 leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1772 CDK3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9759 RAB10 implicated_via_orthology DOID:0111167 Dyggve-Melchior-Clausen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28722 COQ5 implicated_via_orthology DOID:0050730 coenzyme Q10 deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20771 TUBB4B implicated_via_orthology DOID:0112227 tubulinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2961 DYNC1H1 implicated_via_orthology DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20774 TUBB4A implicated_via_orthology DOID:0112227 tubulinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1938 CHKB implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11100 SMARCA4 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1734 CDC34 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29683 SLC25A32 implicated_via_orthology DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7007 RAB8A implicated_via_orthology DOID:0111167 Dyggve-Melchior-Clausen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31675 YTHDF2 implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30213 ATP13A2 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30611 STT3B implicated_via_orthology DOID:0080572 congenital disorder of glycosylation Iw ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19423 ING4 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7007 RAB8A implicated_via_orthology DOID:0060247 Smith-McCort dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23302 HKDC1 implicated_via_orthology DOID:13317 hyperinsulinemic hypoglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB implicated_via_orthology DOID:13099 Moyamoya disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15672 ALG9 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8859 PEX6 implicated_via_orthology DOID:0080377 peroxisomal biogenesis disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2974 DNM2 implicated_via_orthology DOID:0112202 developmental and epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4116 GALE implicated_via_orthology DOID:9870 galactosemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12649 VAPB implicated_via_orthology DOID:0050752 amyotrophic lateral sclerosis type 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3571 ACSL4 implicated_via_orthology DOID:14501 Sjogren-Larsson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:669 RHOC implicated_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11989 TOP2A implicated_via_orthology DOID:9119 acute myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20765 TUBA3E implicated_via_orthology DOID:0112232 lissencephaly 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3266 EIF2S2 implicated_via_orthology DOID:10579 leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24671 FLAD1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2074 CLN3 implicated_via_orthology DOID:0110731 neuronal ceroid lipofuscinosis 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30273 RAB8B implicated_via_orthology DOID:0111167 Dyggve-Melchior-Clausen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:705 Leber hereditary optic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1613 CCS implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1734 CDC34 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6556 LETM1 implicated_via_orthology DOID:0050460 Wolf-Hirschhorn syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12612 USP14 implicated_via_orthology DOID:649 prion disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1908 VPS13A implicated_via_orthology DOID:0111590 Cohen syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20233 COQ6 implicated_via_orthology DOID:3204 schwannomatosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8091 OAT implicated_via_orthology DOID:1415 gyrate atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12527 UGP2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10980 SLC25A10 implicated_via_orthology DOID:0070329 mitochondrial DNA depletion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:411 ALDH3B2 implicated_via_orthology DOID:14501 Sjogren-Larsson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4116 GALE implicated_via_orthology DOID:1588 thrombocytopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18704 NAA10 implicated_via_orthology DOID:0050781 Ogden syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28107 PPCDC implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 implicated_via_orthology DOID:0050560 Walker-Warburg syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5031 HNRNPA1 implicated_via_orthology DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:43863 EIF2S3B implicated_via_orthology DOID:10579 leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10380 MRPS12 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9386 PRKAG2 implicated_via_orthology DOID:384 Wolff-Parkinson-White syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17095 LARS2 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7328 MSH5 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A implicated_via_orthology DOID:1838 Menkes disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4912 HINT1 implicated_via_orthology DOID:0050526 Gamstorp-Wohlfart syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19980 GNPNAT1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30213 ATP13A2 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9851 RANBP6 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13345 LPIN1 implicated_via_orthology DOID:0080108 myoglobinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11098 SMARCA2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9386 PRKAG2 implicated_via_orthology DOID:0090101 lethal congenital glycogen storage disease of heart ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5244 HSPA9 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23141 TRMT5 implicated_via_orthology DOID:0111139 mitochondrial complex III deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12648 VAPA implicated_via_orthology DOID:0050752 amyotrophic lateral sclerosis type 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20778 TUBB implicated_via_orthology DOID:0060260 ptosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3261 EIF2B5 implicated_via_orthology DOID:0060868 leukoencephalopathy with vanishing white matter ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10681 SDHB implicated_via_orthology DOID:890 mitochondrial encephalomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19714 DDHD1 implicated_via_orthology DOID:0110806 hereditary spastic paraplegia 54 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2972 DNM1 implicated_via_orthology DOID:0111223 centronuclear myopathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:145 ACTG2 implicated_via_orthology DOID:0110550 autosomal dominant nonsyndromic deafness 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13487 VPS35 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1769 CDIPT implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 implicated_via_orthology DOID:0111557 Charcot-Marie-Tooth disease type 2A2B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31789 ATP13A5 implicated_via_orthology DOID:0060556 Kufor-Rakeb syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA implicated_via_orthology DOID:3829 pituitary adenoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:1380 endometrial cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17780 ACTBL2 implicated_via_orthology DOID:13099 Moyamoya disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29125 DNM3 implicated_via_orthology DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS implicated_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16066 ACER3 implicated_via_orthology DOID:10579 leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN implicated_via_orthology DOID:12705 Friedreich ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12592 UROS implicated_via_orthology DOID:13270 erythropoietic protoporphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8807 PDHA2 implicated_via_orthology DOID:3649 pyruvate decarboxylase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:130 ACTA2 implicated_via_orthology DOID:13099 Moyamoya disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12756 WDR4 implicated_via_orthology DOID:0050569 Seckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8907 PGM3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23302 HKDC1 implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19365 PANK3 implicated_via_orthology DOID:3981 pantothenate kinase-associated neurodegeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20774 TUBB4A implicated_via_orthology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24071 TUBA3D implicated_via_orthology DOID:0112232 lissencephaly 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29787 TOP1MT implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18168 SLC4A5 implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10603 SCO1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9356 PREB implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:3068 glioblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 implicated_via_orthology DOID:0112182 mismatch repair cancer syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12412 TUBB2A implicated_via_orthology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21042 NUS1 implicated_via_orthology DOID:5212 congenital disorder of glycosylation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2974 DNM2 implicated_via_orthology DOID:11252 microcytic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20774 TUBB4A implicated_via_orthology DOID:0060260 ptosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18518 RNASEH2A implicated_via_orthology DOID:0050629 Aicardi-Goutieres syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9457 PLPBP implicated_via_orthology DOID:0080769 early-onset vitamin B6-dependent epilepsy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14640 ABCC12 implicated_via_orthology DOID:1485 cystic fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG implicated_via_orthology DOID:12558 chronic progressive external ophthalmoplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4135 GALT implicated_via_orthology DOID:9870 galactosemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9385 PRKAG1 implicated_via_orthology DOID:384 Wolff-Parkinson-White syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18809 TUBA1B implicated_via_orthology DOID:0112232 lissencephaly 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20422 POLR1D implicated_via_orthology DOID:0080790 Treacher Collins syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12407 TUBA4A implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25319 SLC25A31 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24649 ETNK1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21642 VARS2 implicated_via_orthology DOID:0060475 myoclonic-atonic epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25422 ATP13A4 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1739 CDC45 implicated_via_orthology DOID:0060306 Meier-Gorlin syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12877 ZMPSTE24 implicated_via_orthology DOID:3911 progeria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24941 HNRNPA3 implicated_via_orthology DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21883 SNX25 implicated_via_orthology DOID:0080066 autosomal recessive spinocerebellar ataxia 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7533 MX2 implicated_via_orthology DOID:0111223 centronuclear myopathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:405 ALDH3A1 implicated_via_orthology DOID:14501 Sjogren-Larsson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30182 POTEKP implicated_via_orthology DOID:13099 Moyamoya disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7727 NEDD4 implicated_via_orthology DOID:0050477 Liddle syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14450 LPIN2 implicated_via_orthology DOID:0080108 myoglobinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29561 ARV1 implicated_via_orthology DOID:9455 lipid storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7532 MX1 implicated_via_orthology DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12306 TRIP12 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11033 SLC4A7 implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29029 TTI1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3437 ERCC5 implicated_via_orthology DOID:2962 Cockayne syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:850 ATP5PO implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25725 WDR75 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23594 VPS13C implicated_via_orthology DOID:0111611 autosomal recessive spinocerebellar ataxia 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10992 SLC25A6 implicated_via_orthology DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4236 GFER implicated_via_orthology DOID:0111216 autosomal recessive centronuclear myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:4852 pleomorphic xanthoastrocytoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4385 GNAI2 implicated_via_orthology DOID:1858 McCune Albright syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:143 ACTC1 implicated_via_orthology DOID:14004 thoracic aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA implicated_via_orthology DOID:10579 leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30077 REEP5 implicated_via_orthology DOID:0110782 hereditary spastic paraplegia 31 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8806 PDHA1 implicated_via_orthology DOID:3649 pyruvate decarboxylase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24380 COX6B2 implicated_via_orthology DOID:890 mitochondrial encephalomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6528 LCP1 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4021 KDSR implicated_via_orthology DOID:0080250 erythrokeratodermia variabilis et progressiva 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1771 CDK2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28125 NAA11 implicated_via_orthology DOID:0050781 Ogden syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3192 EEF1A2 implicated_via_orthology DOID:0080463 developmental and epileptic encephalopathy 33 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28403 TRMT10A implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29103 ATP2C2 implicated_via_orthology DOID:0050429 Hailey-Hailey disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29125 DNM3 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15446 PRPF31 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6598 LIG1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:866 ATP6V0A4 implicated_via_orthology DOID:0110942 autosomal recessive osteopetrosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30467 UBR3 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6215 KARS1 implicated_via_orthology DOID:0050987 hypomyelinating leukoencephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20778 TUBB implicated_via_orthology DOID:0090132 complex cortical dysplasia with other brain malformations 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA implicated_via_orthology DOID:0060537 mitochondrial complex II deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9385 PRKAG1 implicated_via_orthology DOID:0090101 lethal congenital glycogen storage disease of heart ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25851 GINS3 implicated_via_orthology DOID:0060306 Meier-Gorlin syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG implicated_via_orthology DOID:574 peripheral nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7533 MX2 implicated_via_orthology DOID:11252 microcytic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23683 RAB1C implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:1781 thyroid cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20773 TUBB8 implicated_via_orthology DOID:0090132 complex cortical dysplasia with other brain malformations 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:0111273 NARP syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23406 DOLK implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17964 RDH11 implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31789 ATP13A5 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:470 AMPD3 implicated_via_orthology DOID:0060264 pontocerebellar hypoplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10345 RPL35A implicated_via_orthology DOID:1339 Diamond-Blackfan anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26465 YTHDF3 implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12410 TUBA8 implicated_via_orthology DOID:0080918 polymicrogyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10603 SCO1 implicated_via_orthology DOID:409 liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26164 NAA16 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1613 CCS implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3570 ACSL3 implicated_via_orthology DOID:14501 Sjogren-Larsson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20 AARS1 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11577 TAFAZZIN implicated_via_orthology DOID:0050476 Barth syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17663 PITRM1 implicated_via_orthology DOID:9277 primary cerebellar degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25726 LAS1L implicated_via_orthology DOID:0060814 Wilson-Turner syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12502 SUMO1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12662 VBP1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20776 TUBB6 implicated_via_orthology DOID:0090132 complex cortical dysplasia with other brain malformations 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20771 TUBB4B implicated_via_orthology DOID:13934 facial paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20603 DHDDS implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6556 LETM1 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23141 TRMT5 implicated_via_orthology DOID:0060536 mitochondrial complex I deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7453 MTMR6 implicated_via_orthology DOID:0111225 centronuclear myopathy X-linked ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26238 DCAKD implicated_via_orthology DOID:0110740 neurodegeneration with brain iron accumulation 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23594 VPS13C implicated_via_orthology DOID:0050753 cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4162 GARS1 implicated_via_orthology DOID:12377 spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1613 CCS implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:130 ACTA2 implicated_via_orthology DOID:14004 thoracic aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24380 COX6B2 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10980 SLC25A10 implicated_via_orthology DOID:0060475 myoclonic-atonic epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B implicated_via_orthology DOID:1838 Menkes disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19421 ING5 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2244 COQ7 implicated_via_orthology DOID:0070245 primary coenzyme Q10 deficiency 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21022 AARS2 implicated_via_orthology DOID:0050753 cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1780 CDK9 implicated_via_orthology DOID:4451 renal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19714 DDHD1 implicated_via_orthology DOID:0110779 hereditary spastic paraplegia 28 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29106 DDHD2 implicated_via_orthology DOID:0110779 hereditary spastic paraplegia 28 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10333 RPL30 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29125 DNM3 implicated_via_orthology DOID:0111223 centronuclear myopathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1937 CHKA implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10701 SEC23A implicated_via_orthology DOID:0111401 congenital dyserythropoietic anemia type II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3436 ERCC4 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:118 ACO2 implicated_via_orthology DOID:0111442 optic atrophy 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20154 ABHD4 implicated_via_orthology DOID:0050729 Chanarin-Dorfman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9175 POLD1 implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD implicated_via_orthology DOID:2861 congenital nonspherocytic hemolytic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11551 BRF1 implicated_via_orthology DOID:0080898 cerebellofaciodental syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12648 VAPA implicated_via_orthology DOID:0050752 amyotrophic lateral sclerosis type 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8850 PEX1 implicated_via_orthology DOID:0080377 peroxisomal biogenesis disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 implicated_via_orthology DOID:2960 photosensitive trichothiodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19894 TRAPPC1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3189 EEF1A1 implicated_via_orthology DOID:0080463 developmental and epileptic encephalopathy 33 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11028 SLC4A2 implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:853 ATP6V1B1 implicated_via_orthology DOID:14219 renal tubular acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20773 TUBB8 implicated_via_orthology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23157 ALG6 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 implicated_via_orthology DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32537 HSP90AB2P implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:129 ACTA1 implicated_via_orthology DOID:0110550 autosomal dominant nonsyndromic deafness 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2974 DNM2 implicated_via_orthology DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9467 PRPSAP2 implicated_via_orthology DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1908 VPS13A implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:143 ACTC1 implicated_via_orthology DOID:0110550 autosomal dominant nonsyndromic deafness 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7533 MX2 implicated_via_orthology DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7454 MTMR7 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:3571 liver cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12419 TUBG2 implicated_via_orthology DOID:0090138 complex cortical dysplasia with other brain malformations 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:3078 anaplastic astrocytoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9557 PSMD12 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 implicated_via_orthology DOID:543 dystonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12408 TUBA3C implicated_via_orthology DOID:0112232 lissencephaly 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14451 LPIN3 implicated_via_orthology DOID:0080108 myoglobinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4315 GLE1 implicated_via_orthology DOID:0060559 lethal congenital contracture syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2375 MED17 implicated_via_orthology DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25223 COQ2 implicated_via_orthology DOID:4752 multiple system atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5034 HNRNPAB implicated_via_orthology DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18294 ALG1 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5384 IDH3A implicated_via_orthology DOID:0050709 early infantile epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4817 HARS2 implicated_via_orthology DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10702 SEC23B implicated_via_orthology DOID:0111401 congenital dyserythropoietic anemia type II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18294 ALG1 implicated_via_orthology DOID:0080563 congenital disorder of glycosylation Ik ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6402 IPO5 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3200 EEF1A1P5 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1020 BCS1L implicated_via_orthology DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9758 RAB1A implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20778 TUBB implicated_via_orthology DOID:13934 facial paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33721 ALG1L1P implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24624 SIL1 implicated_via_orthology DOID:0080195 Marinesco-Sjogren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17018 SEC23IP implicated_via_orthology DOID:0110779 hereditary spastic paraplegia 28 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18370 RAB1B implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9387 PRKAG3 implicated_via_orthology DOID:384 Wolff-Parkinson-White syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:445 SETX implicated_via_orthology DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2972 DNM1 implicated_via_orthology DOID:0112202 developmental and epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B implicated_via_orthology DOID:893 Wilson disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5385 IDH3B implicated_via_orthology DOID:0050709 early infantile epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7819 SNU13 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12735 WASL implicated_via_orthology DOID:9169 Wiskott-Aldrich syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29125 DNM3 implicated_via_orthology DOID:0112202 developmental and epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30213 ATP13A2 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5253 HSP90AA1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30213 ATP13A2 implicated_via_orthology DOID:0060556 Kufor-Rakeb syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24645 ESCO1 implicated_via_orthology DOID:5325 Roberts syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11301 SRP54 implicated_via_orthology DOID:0112135 severe congenital neutropenia 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4925 HK3 implicated_via_orthology DOID:13317 hyperinsulinemic hypoglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA implicated_via_orthology DOID:0050773 paraganglioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19691 MECR implicated_via_orthology DOID:0111756 Leber hereditary optic neuropathy with demyelinating disease of CNS ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8598 PANK1 implicated_via_orthology DOID:3981 pantothenate kinase-associated neurodegeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8751 CDK18 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10405 RPS20 implicated_via_orthology DOID:1339 Diamond-Blackfan anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8017 NSMAF implicated_via_orthology DOID:2935 Chediak-Higashi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4923 HK2 implicated_via_orthology DOID:13317 hyperinsulinemic hypoglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24113 ATP13A3 implicated_via_orthology DOID:0060556 Kufor-Rakeb syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4431 GOSR2 implicated_via_orthology DOID:0111449 progressive myoclonus epilepsy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10982 SLC25A12 implicated_via_orthology DOID:9273 citrullinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25799 GUF1 implicated_via_orthology DOID:0050562 West syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4394 GNAT2 implicated_via_orthology DOID:1858 McCune Albright syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:143 ACTC1 implicated_via_orthology DOID:13832 patent ductus arteriosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1937 CHKA implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 implicated_via_orthology DOID:0111557 Charcot-Marie-Tooth disease type 2A2B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10683 SDHD implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28072 LYRM7 implicated_via_orthology DOID:3650 lactic acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19423 ING4 implicated_via_orthology DOID:1749 squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23699 DNAJB8 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:0060480 left ventricular noncompaction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30782 NAA15 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2746 DDX5 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1851 CENPA implicated_via_orthology DOID:14228 oligospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21396 ABHD5 implicated_via_orthology DOID:0050729 Chanarin-Dorfman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19366 PANK4 implicated_via_orthology DOID:3981 pantothenate kinase-associated neurodegeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:67 ABCD3 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS implicated_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12485 UBE2I implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17976 RPL10L implicated_via_orthology DOID:0060807 syndromic X-linked intellectual disability Najm type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR implicated_via_orthology DOID:1380 endometrial cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30182 POTEKP implicated_via_orthology DOID:14004 thoracic aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11029 SLC4A3 implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7898 NPC1L1 implicated_via_orthology DOID:0070113 Niemann-Pick disease type C1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7224 MPV17 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9466 PRPSAP1 implicated_via_orthology DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:814 ATP2B1 implicated_via_orthology DOID:0050429 Hailey-Hailey disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4389 GNAO1 implicated_via_orthology DOID:1858 McCune Albright syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1938 CHKB implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 implicated_via_orthology DOID:4159 skin cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4624 GSS implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10710 TRAPPC2B implicated_via_orthology DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21642 VARS2 implicated_via_orthology DOID:890 mitochondrial encephalomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7451 MTMR3 implicated_via_orthology DOID:0111225 centronuclear myopathy X-linked ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 implicated_via_orthology DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20233 COQ6 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20772 TUBB3 implicated_via_orthology DOID:0060260 ptosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18656 RIOK1 implicated_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 implicated_via_orthology DOID:0111253 neurofibromatosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24728 TARS3 implicated_via_orthology DOID:9252 amino acid metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12309 ZNHIT3 implicated_via_orthology DOID:0080539 PEHO syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7450 MTMR2 implicated_via_orthology DOID:0111225 centronuclear myopathy X-linked ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20774 TUBB4A implicated_via_orthology DOID:0090132 complex cortical dysplasia with other brain malformations 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23141 TRMT5 implicated_via_orthology DOID:12678 hypercalcemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1983 UTP4 implicated_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9090 PLS1 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2021 CLCN3 implicated_via_orthology DOID:13533 osteopetrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:10021 duodenum cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11112 SMC1B implicated_via_orthology DOID:0080506 Cornelia de Lange syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:144 ACTG1 implicated_via_orthology DOID:13099 Moyamoya disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9540 PSMB3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3296 EIF4G1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19907 UBE2R2 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24071 TUBA3D implicated_via_orthology DOID:0112234 microlissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24071 TUBA3D implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3647 FECH implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30074 POLR3A implicated_via_orthology DOID:0060794 hypomyelinating leukodystrophy 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5959 ELP1 implicated_via_orthology DOID:11589 Riley-Day syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24983 TUBB8B implicated_via_orthology DOID:0112227 tubulinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14434 CDK15 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11986 TOP1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16257 TUBB1 implicated_via_orthology DOID:0090132 complex cortical dysplasia with other brain malformations 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7450 MTMR2 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9762 RAB13 implicated_via_orthology DOID:0111167 Dyggve-Melchior-Clausen disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:130 ACTA2 implicated_via_orthology DOID:13832 patent ductus arteriosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20773 TUBB8 implicated_via_orthology DOID:13934 facial paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11816 TIMM13 implicated_via_orthology DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 implicated_via_orthology DOID:0050427 xeroderma pigmentosum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:46 ABCB5 implicated_via_orthology DOID:1485 cystic fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7448 MTM1 implicated_via_orthology DOID:0111225 centronuclear myopathy X-linked ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10701 SEC23A implicated_via_orthology DOID:5325 Roberts syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17780 ACTBL2 implicated_via_orthology DOID:13832 patent ductus arteriosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9548 PSMC2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10768 SF3B1 implicated_via_orthology DOID:9119 acute myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:3459 breast carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 implicated_via_orthology DOID:0050977 spinocerebellar ataxia type 28 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A implicated_via_orthology DOID:893 Wilson disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1449 CALM3 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20 AARS1 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20310 GRTP1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30829 TUBB2B implicated_via_orthology DOID:13934 facial paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:42 ABCB11 implicated_via_orthology DOID:1485 cystic fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG implicated_via_orthology DOID:0080122 Alpers-Huttenlocher syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8512 OTC implicated_via_orthology DOID:9271 ornithine carbamoyltransferase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4393 GNAT1 implicated_via_orthology DOID:1858 McCune Albright syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20771 TUBB4B implicated_via_orthology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1778 CDK7 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 implicated_via_orthology DOID:0080908 Cockayne syndrome B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 implicated_via_orthology DOID:0111441 optic atrophy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28052 XPNPEP3 implicated_via_orthology DOID:0111117 nephronophthisis-like nephropathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12408 TUBA3C implicated_via_orthology DOID:0112234 microlissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24113 ATP13A3 implicated_via_orthology DOID:0060893 juvenile-onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 implicated_via_orthology DOID:10155 intestinal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:865 ATP6V0A1 implicated_via_orthology DOID:14219 renal tubular acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR implicated_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22800 GNAT3 implicated_via_orthology DOID:1858 McCune Albright syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1968 LYST implicated_via_orthology DOID:2935 Chediak-Higashi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20766 TUBA1A implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2280 COX6B1 implicated_via_orthology DOID:890 mitochondrial encephalomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3650 FEN1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA implicated_via_orthology DOID:0050771 pheochromocytoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20768 TUBA1C implicated_via_orthology DOID:0080918 polymicrogyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26033 PUS7 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16476 TOLLIP implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 implicated_via_orthology DOID:1441 autosomal dominant cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10989 SLC25A3 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20765 TUBA3E implicated_via_orthology DOID:0080918 polymicrogyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29569 LIPT1 implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33867 SDHAF1 implicated_via_orthology DOID:0060537 mitochondrial complex II deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17271 RRAS2 implicated_via_orthology DOID:0050469 Costello syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:707 ARPC4 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3298 EIF4G3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27365 TECRL implicated_via_orthology DOID:0050889 non-syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2023 CLCN5 implicated_via_orthology DOID:0050699 Dent disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14198 ELAC2 implicated_via_orthology DOID:0060536 mitochondrial complex I deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3287 EIF4E implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7330 MSI1 implicated_via_orthology DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14648 LETM2 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9281 PPP1CA implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23068 TRAPPC2 implicated_via_orthology DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20772 TUBB3 implicated_via_orthology DOID:0090132 complex cortical dysplasia with other brain malformations 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20 AARS1 implicated_via_orthology DOID:0050753 cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32397 DNAJB3 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 implicated_via_orthology DOID:2962 Cockayne syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8898 PGK2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN implicated_via_orthology DOID:2351 iron metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3200 EEF1A1P5 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20765 TUBA3E implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10683 SDHD implicated_via_orthology DOID:0060537 mitochondrial complex II deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11990 TOP2B implicated_via_orthology DOID:9119 acute myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:468 AMPD1 implicated_via_orthology DOID:0060264 pontocerebellar hypoplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5270 DNAJB1 implicated_via_orthology DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20310 GRTP1 implicated_via_orthology DOID:3369 Ewing sarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29932 COASY implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5258 HSP90AB1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS implicated_via_orthology DOID:2394 ovarian cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7897 NPC1 implicated_via_orthology DOID:0070113 Niemann-Pick disease type C1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2939 DNA2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17210 DHX37 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23141 TRMT5 implicated_via_orthology DOID:699 mitochondrial myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:263 kidney cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32538 HSP90AB4P implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26220 PIF1 implicated_via_orthology DOID:3911 progeria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 implicated_via_orthology DOID:2394 ovarian cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24113 ATP13A3 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2939 DNA2 implicated_via_orthology DOID:5688 Werner syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7453 MTMR6 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5542 IGHMBP2 implicated_via_orthology DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12585 UQCRC1 implicated_via_orthology DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30829 TUBB2B implicated_via_orthology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17358 TPK1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11404 STK25 implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25422 ATP13A4 implicated_via_orthology DOID:0060893 juvenile-onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16257 TUBB1 implicated_via_orthology DOID:13934 facial paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10768 SF3B1 implicated_via_orthology DOID:0050939 uterine corpus endometrial carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16352 MRM2 implicated_via_orthology DOID:3687 MELAS syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15894 PANK2 implicated_via_orthology DOID:3981 pantothenate kinase-associated neurodegeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2939 DNA2 implicated_via_orthology DOID:2717 Bloom syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17976 RPL10L implicated_via_orthology DOID:12849 autistic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19902 RRAGC implicated_via_orthology DOID:0050873 follicular lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18481 ATP6V0A2 implicated_via_orthology DOID:0110942 autosomal recessive osteopetrosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14596 MTMR9 implicated_via_orthology DOID:0111225 centronuclear myopathy X-linked ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24113 ATP13A3 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9091 PLS3 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10991 SLC25A5 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6172 STT3A implicated_via_orthology DOID:0080572 congenital disorder of glycosylation Iw ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20286 TRIT1 implicated_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31789 ATP13A5 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25686 PPCS implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1908 VPS13A implicated_via_orthology DOID:0060896 Parkinson's disease 23 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20772 TUBB3 implicated_via_orthology DOID:0112227 tubulinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20768 TUBA1C implicated_via_orthology DOID:0112234 microlissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10681 SDHB implicated_via_orthology DOID:0050773 paraganglioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:129 ACTA1 implicated_via_orthology DOID:14004 thoracic aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16466 SUFU implicated_via_orthology DOID:0050902 medulloblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19986 CYCS implicated_via_orthology DOID:1588 thrombocytopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20772 TUBB3 implicated_via_orthology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9067 PLD1 implicated_via_orthology DOID:0080633 developmental cardiac valvular defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6898 MARS1 implicated_via_orthology DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4387 GNAI3 implicated_via_orthology DOID:1858 McCune Albright syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9282 PPP1CB implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9466 PRPSAP1 implicated_via_orthology DOID:0050647 Arts syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5036 HNRNPD implicated_via_orthology DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20774 TUBB4A implicated_via_orthology DOID:13934 facial paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11647 TCIRG1 implicated_via_orthology DOID:0110942 autosomal recessive osteopetrosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19980 GNPNAT1 implicated_via_orthology DOID:0080753 keratosis follicularis spinulosa decalvans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7451 MTMR3 implicated_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17663 PITRM1 implicated_via_orthology DOID:0050951 hereditary ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20765 TUBA3E implicated_via_orthology DOID:0112234 microlissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM implicated_via_orthology DOID:12704 ataxia telangiectasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7532 MX1 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 implicated_via_orthology DOID:8712 neurofibromatosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:469 AMPD2 implicated_via_orthology DOID:0060264 pontocerebellar hypoplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1778 CDK7 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE implicated_via_orthology DOID:3717 gastric adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10768 SF3B1 implicated_via_orthology DOID:4006 bladder urothelial carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20776 TUBB6 implicated_via_orthology DOID:0060260 ptosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18802 ATPAF2 implicated_via_orthology DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24649 ETNK1 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31789 ATP13A5 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8849 GATB implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14648 LETM2 implicated_via_orthology DOID:0050460 Wolf-Hirschhorn syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:145 ACTG2 implicated_via_orthology DOID:14004 thoracic aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4923 HK2 implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7734 NEFM implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17340 PRPF8 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19041 COQ8B implicated_via_orthology DOID:0080391 nephrotic syndrome type 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25223 COQ2 implicated_via_orthology DOID:0050730 coenzyme Q10 deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10604 SCO2 implicated_via_orthology DOID:409 liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12651 VARS1 implicated_via_orthology DOID:0111478 combined oxidative phosphorylation deficiency 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2021 CLCN3 implicated_via_orthology DOID:0050699 Dent disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12417 TUBG1 implicated_via_orthology DOID:0090138 complex cortical dysplasia with other brain malformations 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30182 POTEKP implicated_via_orthology DOID:13832 patent ductus arteriosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30074 POLR3A implicated_via_orthology DOID:0060786 hypomyelinating leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8855 PEX13 implicated_via_orthology DOID:906 peroxisomal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20778 TUBB implicated_via_orthology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23161 ALG8 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12412 TUBB2A implicated_via_orthology DOID:0060260 ptosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2280 COX6B1 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6215 KARS1 implicated_via_orthology DOID:0110534 autosomal recessive nonsyndromic deafness 89 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13811 SLC4A10 implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18025 COA6 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12799 WWOX implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29106 DDHD2 implicated_via_orthology DOID:0110806 hereditary spastic paraplegia 54 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30760 TMEM165 implicated_via_orthology DOID:0070263 congenital disorder of glycosylation type IIk ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:144 ACTG1 implicated_via_orthology DOID:0110550 autosomal dominant nonsyndromic deafness 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16804 WWP2 implicated_via_orthology DOID:0050477 Liddle syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 implicated_via_orthology DOID:3571 liver cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR implicated_via_orthology DOID:11724 limb-girdle muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA implicated_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2023 CLCN5 implicated_via_orthology DOID:13533 osteopetrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23594 VPS13C implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21642 VARS2 implicated_via_orthology DOID:0111478 combined oxidative phosphorylation deficiency 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16935 ATG7 implicated_via_orthology DOID:863 nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14587 ING3 implicated_via_orthology DOID:1749 squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17097 EXOSC2 implicated_via_orthology DOID:9538 multiple myeloma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30718 DNAJB13 implicated_via_orthology DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2972 DNM1 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7533 MX2 implicated_via_orthology DOID:0112202 developmental and epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3200 EEF1A1P5 implicated_via_orthology DOID:0080463 developmental and epileptic encephalopathy 33 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29125 DNM3 implicated_via_orthology DOID:11252 microcytic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25575 ETNK2 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19979 RDH14 implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30551 TXNL4A implicated_via_orthology DOID:0080695 Burn-McKeown syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12407 TUBA4A implicated_via_orthology DOID:0112232 lissencephaly 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4816 HARS1 implicated_via_orthology DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30829 TUBB2B implicated_via_orthology DOID:0112227 tubulinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7533 MX2 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28072 LYRM7 implicated_via_orthology DOID:0111139 mitochondrial complex III deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE implicated_via_orthology DOID:13810 familial hypercholesterolemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1974 CHUK implicated_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE implicated_via_orthology DOID:10914 amnestic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:711 ARRB1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR implicated_via_orthology DOID:0111862 congenital bilateral absence of vas deferens ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14900 IL22 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9593 PTGER1 implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6293 KCNN4 implicated_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10658 SDC1 implicated_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11071 SLC9A1 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6291 KCNN2 implicated_via_orthology DOID:4990 essential tremor ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 implicated_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11765 TGFA implicated_via_orthology DOID:1793 pancreatic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8528 OXT implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6765 MADCAM1 implicated_via_orthology DOID:3044 food allergy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 implicated_via_orthology DOID:10914 amnestic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:497 TRPA1 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 implicated_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:348 AHR implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10911 SLC12A2 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8795 PDE9A implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK implicated_via_orthology DOID:1556 arthus reaction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9595 PTGER3 implicated_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6501 LAMP2 implicated_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 implicated_via_orthology DOID:2913 acute pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6153 ITGB1 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 implicated_via_orthology DOID:0060319 cardiac arrest ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1084 BNIP3 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE implicated_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4267 GHSR implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA implicated_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO implicated_via_orthology DOID:4914 esophagus adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1319 C3AR1 implicated_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7980 NR4A1 implicated_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:2537 inflammatory and toxic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL implicated_via_orthology DOID:341 peripheral vascular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11608 TBXA2R implicated_via_orthology DOID:1588 thrombocytopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10019 RIPK1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6899 MAS1 implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8601 REG3A implicated_via_orthology DOID:2913 acute pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7132 KMT2A implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6140 ITGA4 implicated_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5302 HTR7 implicated_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:3082 interstitial lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:253 ADH5 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8529 OXTR implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11042 SLC6A1 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE implicated_via_orthology DOID:14115 toxic shock syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7750 NELL1 implicated_via_orthology DOID:2340 craniosynostosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17108 ADAMTS16 implicated_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8618 PAX4 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 implicated_via_orthology DOID:2799 bronchiolitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1700 CD80 implicated_via_orthology DOID:0050523 adult T-cell leukemia/lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:727 ARTN implicated_via_orthology DOID:574 peripheral nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 implicated_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB implicated_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR implicated_via_orthology DOID:693 dental enamel hypoplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8783 PDE4D implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16007 TRIM63 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C implicated_via_orthology DOID:9975 cocaine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 implicated_via_orthology DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4583 GRIK5 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9831 RAG1 implicated_via_orthology DOID:627 severe combined immunodeficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9596 PTGER4 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:7614 meninges sarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6148 ITGAL implicated_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 implicated_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4268 CBLIF implicated_via_orthology DOID:4029 gastritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30620 PDGFD implicated_via_orthology DOID:4783 mesangial proliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16 SERPINA3 implicated_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM implicated_via_orthology DOID:1240 leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7957 NPY2R implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 implicated_via_orthology DOID:11713 diabetic angiopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 implicated_via_orthology DOID:11132 prostatic hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10661 SDC4 implicated_via_orthology DOID:104 bacterial infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11517 TAC1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 implicated_via_orthology DOID:2234 focal epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:226 ADARB1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11071 SLC9A1 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 implicated_via_orthology DOID:8869 neuromyelitis optica ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM implicated_via_orthology DOID:1227 neutropenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18006 NISCH implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:262 ADORA1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT implicated_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:3627 aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11517 TAC1 implicated_via_orthology DOID:9220 central sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR implicated_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 implicated_via_orthology DOID:614 lymphopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7956 NPY1R implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1617 CCT4 implicated_via_orthology DOID:0050548 hereditary sensory neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:644 AR implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C implicated_via_orthology DOID:303 substance-related disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 implicated_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16067 MYOCD implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:4029 gastritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 implicated_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4296 GLA implicated_via_orthology DOID:14499 Fabry disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6140 ITGA4 implicated_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32934 SLCO1B7 implicated_via_orthology DOID:2741 bilirubin metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 implicated_via_orthology DOID:10603 glucose intolerance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 implicated_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8008 NRXN1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11608 TBXA2R implicated_via_orthology DOID:14115 toxic shock syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:847 ATP5PF implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:497 TRPA1 implicated_via_orthology DOID:0070355 overactive bladder syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:651 AREG implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29595 REG3G implicated_via_orthology DOID:2913 acute pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:221 ADAMTS5 implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:282 ADRA2B implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11772 TGFBR1 implicated_via_orthology DOID:127 leiomyoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11071 SLC9A1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:10923 sickle cell anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5237 HSPA4 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 implicated_via_orthology DOID:0050523 adult T-cell leukemia/lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 implicated_via_orthology DOID:3347 osteosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 implicated_via_orthology DOID:10914 amnestic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 implicated_via_orthology DOID:3068 glioblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C implicated_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:895 AVPR1A implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:281 ADRA2A implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18124 P2RY12 implicated_via_orthology DOID:0060903 thrombosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:2799 bronchiolitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 implicated_via_orthology DOID:2799 bronchiolitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10908 SLC11A2 implicated_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 implicated_via_orthology DOID:9993 hypoglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R implicated_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17451 CYSLTR1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2662 DAB2 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3575 FADS2 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11527 TACR2 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A implicated_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7980 NR4A1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 implicated_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7661 NCF2 implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31566 MIR195 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 implicated_via_orthology DOID:11396 pulmonary edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:895 AVPR1A implicated_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3402 EPHX2 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6876 MAPK14 implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 implicated_via_orthology DOID:13001 carotid stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 implicated_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6895 MARCO implicated_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:497 TRPA1 implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF implicated_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 implicated_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1725 CDC25A implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:604 APOBEC1 implicated_via_orthology DOID:916 liver benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:894 AVP implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 implicated_via_orthology DOID:8616 Peyronie's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG implicated_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 implicated_via_orthology DOID:2738 pseudoxanthoma elasticum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4223 MSTN implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:4543 retrograde amnesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12716 TRPV1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7983 NR5A1 implicated_via_orthology DOID:14447 gonadal dysgenesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:348 AHR implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:277 ADRA1A implicated_via_orthology DOID:13948 bladder neck obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 implicated_via_orthology DOID:0080908 Cockayne syndrome B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3402 EPHX2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM implicated_via_orthology DOID:14566 disease of cellular proliferation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8786 PDE6B implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11526 TACR1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10911 SLC12A2 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:3371 chondrosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4311 GCLC implicated_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4468 UTS2R implicated_via_orthology DOID:12932 endomyocardial fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM implicated_via_orthology DOID:4783 mesangial proliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14289 NLGN3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8831 PENK implicated_via_orthology DOID:9976 heroin dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:226 ADARB1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 implicated_via_orthology DOID:11713 diabetic angiopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30620 PDGFD implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11772 TGFBR1 implicated_via_orthology DOID:2256 osteochondrodysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17646 NGLY1 implicated_via_orthology DOID:0060728 NGLY1-deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8512 OTC implicated_via_orthology DOID:9271 ornithine carbamoyltransferase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 implicated_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7956 NPY1R implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 implicated_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16505 CYGB implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 implicated_via_orthology DOID:5223 infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4243 GFRA1 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1753 CDH13 implicated_via_orthology DOID:303 substance-related disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:262 ADORA1 implicated_via_orthology DOID:0050848 obstructive sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 implicated_via_orthology DOID:0080199 colorectal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4173 GATA4 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11604 TBX5 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4594 GRM2 implicated_via_orthology DOID:9976 heroin dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4606 PDIA3 implicated_via_orthology DOID:9778 irritable bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE implicated_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT implicated_via_orthology DOID:12449 aplastic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5192 HES1 implicated_via_orthology DOID:8552 chronic myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM implicated_via_orthology DOID:12704 ataxia telangiectasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 implicated_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10582 SCN10A implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6899 MAS1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17108 ADAMTS16 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 implicated_via_orthology DOID:1697 ichthyosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:895 AVPR1A implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23 ABAT implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2858 DGUOK implicated_via_orthology DOID:0080121 mitochondrial DNA depletion syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:2384 Wernicke encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR implicated_via_orthology DOID:3345 xanthomatosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:245 ADD3 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:790 ocular hypotension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA implicated_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28240 HVCN1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE implicated_via_orthology DOID:0080178 mucositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 implicated_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6996 MEF2C implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31635 MIR34A implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6143 ITGA7 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE implicated_via_orthology DOID:10230 aortic atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8784 PDE5A implicated_via_orthology DOID:4762 vasculogenic impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6371 KLKB1 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2634 CYP2J2 implicated_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 implicated_via_orthology DOID:1724 duodenal ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8806 PDHA1 implicated_via_orthology DOID:3649 pyruvate decarboxylase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6278 KCNK3 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 implicated_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6293 KCNN4 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6501 LAMP2 implicated_via_orthology DOID:2475 chronic conjunctivitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 implicated_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:3571 liver cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10078 RNPEP implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R implicated_via_orthology DOID:614 lymphopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 implicated_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR implicated_via_orthology DOID:10603 glucose intolerance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23 ABAT implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 implicated_via_orthology DOID:3875 thrombophlebitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:2799 bronchiolitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 implicated_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2518 CTNS implicated_via_orthology DOID:1064 cystinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA implicated_via_orthology DOID:0050454 periventricular nodular heterotopia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10840 SHC1 implicated_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 implicated_via_orthology DOID:3803 Crigler-Najjar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12496 UBE3A implicated_via_orthology DOID:1932 Angelman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C implicated_via_orthology DOID:809 cocaine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9596 PTGER4 implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA implicated_via_orthology DOID:670 amphetamine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4296 GLA implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 implicated_via_orthology DOID:900 hepatopulmonary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5302 HTR7 implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA implicated_via_orthology DOID:1588 thrombocytopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 implicated_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:583 APC implicated_via_orthology DOID:0050424 familial adenomatous polyposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 implicated_via_orthology DOID:0050890 synucleinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7408 MT3 implicated_via_orthology DOID:231 motor neuron disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH implicated_via_orthology DOID:0080301 atypical hemolytic-uremic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:281 ADRA2A implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 implicated_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 implicated_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11526 TACR1 implicated_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 implicated_via_orthology DOID:0050852 limb ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2665 CD55 implicated_via_orthology DOID:769 neuroblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12724 VTN implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 implicated_via_orthology DOID:5223 infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF implicated_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1571 CCKBR implicated_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 implicated_via_orthology DOID:1781 thyroid cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8978 PIK3CG implicated_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10908 SLC11A2 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 implicated_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1700 CD80 implicated_via_orthology DOID:3388 periodontal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6715 LTBP2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 implicated_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31605 MIR23A implicated_via_orthology DOID:10159 osteonecrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 implicated_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11608 TBXA2R implicated_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP implicated_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 implicated_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 implicated_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3546 F8 implicated_via_orthology DOID:801 hemarthrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2719 DDC implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1499 CASP1 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21744 CPEB1 implicated_via_orthology DOID:3068 glioblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1232 EGLN1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6293 KCNN4 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB implicated_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10959 SLCO1B1 implicated_via_orthology DOID:2741 bilirubin metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:900 hepatopulmonary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:809 cocaine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1078 BMPR2 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3579 FAH implicated_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11526 TACR1 implicated_via_orthology DOID:9220 central sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:9206 Barrett's esophagus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11527 TACR2 implicated_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7661 NCF2 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:12986 leukostasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 implicated_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6140 ITGA4 implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 implicated_via_orthology DOID:12849 autistic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9582 PTAFR implicated_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 implicated_via_orthology DOID:431 myofascial pain syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 implicated_via_orthology DOID:0060189 ileitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:550 AOC3 implicated_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23 ABAT implicated_via_orthology DOID:9976 heroin dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 implicated_via_orthology DOID:3748 esophagus squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE implicated_via_orthology DOID:8997 polycythemia vera ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5302 HTR7 implicated_via_orthology DOID:1825 childhood absence epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:4926 bronchiolo-alveolar adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6010 IL2RG implicated_via_orthology DOID:628 combined T cell and B cell immunodeficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF implicated_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12693 VIP implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8601 REG3A implicated_via_orthology DOID:2913 acute pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11608 TBXA2R implicated_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6857 MAP3K5 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:1115 sarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2665 CD55 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9596 PTGER4 implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6027 CXCR2 implicated_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6501 LAMP2 implicated_via_orthology DOID:0050437 Danon disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH implicated_via_orthology DOID:1063 interstitial nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15832 BSCL2 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 implicated_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT implicated_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:13100 intracranial vasospasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16697 SORCS1 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1158 TSPO implicated_via_orthology DOID:14502 cholesterol ester storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11195 SOX2 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5209 HSD11B2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4943 HLA-DQA2 implicated_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:348 AHR implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15476 DYNLL1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23 ABAT implicated_via_orthology DOID:0050562 West syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9582 PTAFR implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 implicated_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6010 IL2RG implicated_via_orthology DOID:0060013 X-linked severe combined immunodeficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR implicated_via_orthology DOID:1485 cystic fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 implicated_via_orthology DOID:7188 autoimmune thyroiditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1338 C5AR1 implicated_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29605 SH2B3 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 implicated_via_orthology DOID:0050827 rheumatic heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11284 SRD5A1 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR implicated_via_orthology DOID:13812 adhesions of uterus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF implicated_via_orthology DOID:3969 thyroid gland papillary carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:583 APC implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A implicated_via_orthology DOID:594 panic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5192 HES1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11772 TGFBR1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 implicated_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 implicated_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 implicated_via_orthology DOID:0081267 graft-versus-host disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB implicated_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH implicated_via_orthology DOID:11132 prostatic hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8605 PARG implicated_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B implicated_via_orthology DOID:0050696 fetal alcohol spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6859 MAP3K7 implicated_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 implicated_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1678 CD4 implicated_via_orthology DOID:10303 sialadenitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE implicated_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF implicated_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 implicated_via_orthology DOID:0070355 overactive bladder syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:360 AIRE implicated_via_orthology DOID:14040 autoimmune polyendocrine syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:9655 oral mucosa leukoplakia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 implicated_via_orthology DOID:13001 carotid stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9376 PRKAA1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 implicated_via_orthology DOID:11396 pulmonary edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8795 PDE9A implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7585 MYL4 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 implicated_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 implicated_via_orthology DOID:14261 fragile X syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3277 EIF3E implicated_via_orthology DOID:3669 intermittent claudication ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2714 DCX implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6783 MAG implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG implicated_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8155 OPRL1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14064 HDAC6 implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 implicated_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8784 PDE5A implicated_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 implicated_via_orthology DOID:11049 meconium aspiration syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A implicated_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6932 MC4R implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 implicated_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:583 APC implicated_via_orthology DOID:234 colon adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9831 RAG1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3246 EHF implicated_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11491 SYK implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 implicated_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 implicated_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM implicated_via_orthology DOID:5223 infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16355 GAS5 implicated_via_orthology DOID:0060319 cardiac arrest ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6262 KCNJ16 implicated_via_orthology DOID:4500 hypokalemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB implicated_via_orthology DOID:0060903 thrombosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:841 extrinsic allergic alveolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 implicated_via_orthology DOID:14018 alcoholic liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB implicated_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3766 FLT3LG implicated_via_orthology DOID:1793 pancreatic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11526 TACR1 implicated_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6501 LAMP2 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 implicated_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 implicated_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5302 HTR7 implicated_via_orthology DOID:10914 amnestic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR implicated_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:648 ARC implicated_via_orthology DOID:2560 morphine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9596 PTGER4 implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 implicated_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30412 SETD7 implicated_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO implicated_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1338 C5AR1 implicated_via_orthology DOID:0060903 thrombosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF implicated_via_orthology DOID:14115 toxic shock syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14530 SP6 implicated_via_orthology DOID:2187 amelogenesis imperfecta ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:12466 secondary hyperparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9107 PLXND1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18124 P2RY12 implicated_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9595 PTGER3 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:4926 bronchiolo-alveolar adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14064 HDAC6 implicated_via_orthology DOID:0050770 polycystic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR implicated_via_orthology DOID:10230 aortic atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS implicated_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A implicated_via_orthology DOID:3082 interstitial lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12716 TRPV1 implicated_via_orthology DOID:2548 reflex epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11003 SLC29A1 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 implicated_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1700 CD80 implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 implicated_via_orthology DOID:0050156 idiopathic pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:550 AOC3 implicated_via_orthology DOID:3627 aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:664 ARG2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1774 CDK5 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18795 UBD implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:644 AR implicated_via_orthology DOID:11132 prostatic hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 implicated_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 implicated_via_orthology DOID:12140 Chagas disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 implicated_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 implicated_via_orthology DOID:4677 keratitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6027 CXCR2 implicated_via_orthology DOID:3213 demyelinating disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9399 PRKCD implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO implicated_via_orthology DOID:9206 Barrett's esophagus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3579 FAH implicated_via_orthology DOID:0050726 tyrosinemia type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME implicated_via_orthology DOID:13250 diarrhea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:14566 disease of cellular proliferation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2634 CYP2J2 implicated_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 implicated_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3393 EPHB2 implicated_via_orthology DOID:9778 irritable bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 implicated_via_orthology DOID:3068 glioblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4388 GNAL implicated_via_orthology DOID:543 dystonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30308 RGMA implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA implicated_via_orthology DOID:11396 pulmonary edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7976 NR2F2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 implicated_via_orthology DOID:13252 mesenteric vascular occlusion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:648 ARC implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 implicated_via_orthology DOID:9976 heroin dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE implicated_via_orthology DOID:3393 coronary artery disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6381 KMO implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7672 NCOR1 implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2634 CYP2J2 implicated_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR implicated_via_orthology DOID:0080884 vitamin D-dependent rickets type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM implicated_via_orthology DOID:14115 toxic shock syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9449 PRNP implicated_via_orthology DOID:5434 scrapie ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8784 PDE5A implicated_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31580 MIR200C implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1499 CASP1 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31566 MIR195 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16940 DGAT2 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3575 FADS2 implicated_via_orthology DOID:5804 discrete subaortic stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9582 PTAFR implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A implicated_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR implicated_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:550 AOC3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8859 PEX6 implicated_via_orthology DOID:906 peroxisomal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE implicated_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:1793 pancreatic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 implicated_via_orthology DOID:11382 corneal neovascularization ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4845 HCN1 implicated_via_orthology DOID:3324 mood disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR implicated_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10886 SIRT2 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 implicated_via_orthology DOID:0050156 idiopathic pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2358 CRHR2 implicated_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17108 ADAMTS16 implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:3347 osteosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1338 C5AR1 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9989 RGN implicated_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8784 PDE5A implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2436 CSF2RB implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9413 PRKDC implicated_via_orthology DOID:627 severe combined immunodeficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 implicated_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 implicated_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6501 LAMP2 implicated_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1771 CDK2 implicated_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7795 NFKB2 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11371 STAU2 implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:933 BACE1 implicated_via_orthology DOID:1307 dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 implicated_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8157 SIGMAR1 implicated_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B implicated_via_orthology DOID:303 substance-related disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:0111128 focal segmental glomerulosclerosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2891 DKK1 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10961 SLCO1B3 implicated_via_orthology DOID:2741 bilirubin metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2394 CRYBA1 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7889 NOX1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7891 NOX4 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7889 NOX1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1912 CHAT implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 implicated_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 implicated_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14295 SHANK2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 implicated_via_orthology DOID:0080886 vitamin D-dependent rickets type 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11068 SLC8A1 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4419 GNRH1 implicated_via_orthology DOID:11132 prostatic hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R implicated_via_orthology DOID:0080006 bone development disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R implicated_via_orthology DOID:5223 infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:303 substance-related disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29799 SGMS1 implicated_via_orthology DOID:11396 pulmonary edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3265 EIF2S1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6765 MADCAM1 implicated_via_orthology DOID:8778 Crohn's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:9775 diastolic heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31619 MIR29B1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 implicated_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM implicated_via_orthology DOID:0060058 lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:750 peptic ulcer disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 implicated_via_orthology DOID:1520 colon carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 implicated_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4845 HCN1 implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 implicated_via_orthology DOID:12308 Dubin-Johnson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR implicated_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS implicated_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2394 CRYBA1 implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6487 LAMB2 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7464 MTNR1B implicated_via_orthology DOID:2913 acute pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 implicated_via_orthology DOID:4481 allergic rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25244 CCDC39 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7958 NPY5R implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14900 IL22 implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6349 KLF5 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29595 REG3G implicated_via_orthology DOID:2913 acute pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9832 RAG2 implicated_via_orthology DOID:627 severe combined immunodeficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7889 NOX1 implicated_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:2871 endometrial carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 implicated_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4468 UTS2R implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16505 CYGB implicated_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 implicated_via_orthology DOID:11994 atrophy of testis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8784 PDE5A implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5302 HTR7 implicated_via_orthology DOID:6364 migraine ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6572 LGI1 implicated_via_orthology DOID:7725 epilepsy with generalized tonic-clonic seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7458 MT-ND3 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 implicated_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7174 MMP7 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:10603 glucose intolerance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15476 DYNLL1 implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6857 MAP3K5 implicated_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4945 HLA-DQB2 implicated_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6598 LIG1 implicated_via_orthology DOID:7725 epilepsy with generalized tonic-clonic seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1678 CD4 implicated_via_orthology DOID:813 septic arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8988 PIN1 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA implicated_via_orthology DOID:5425 ovarian hyperstimulation syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1602 CCR1 implicated_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11551 BRF1 implicated_via_orthology DOID:0050871 fibroma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9582 PTAFR implicated_via_orthology DOID:1227 neutropenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:257 ADK implicated_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4385 GNAI2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 implicated_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 implicated_via_orthology DOID:10966 lipoid nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10643 CXCL6 implicated_via_orthology DOID:1520 colon carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6621 LIPE implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 implicated_via_orthology DOID:841 extrinsic allergic alveolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17019 PRICKLE1 implicated_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6153 ITGB1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14240 SMPD3 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5172 HR implicated_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14077 NGB implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B implicated_via_orthology DOID:5223 infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3819 FOXO1 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 implicated_via_orthology DOID:3393 coronary artery disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7776 NFATC2 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6262 KCNJ16 implicated_via_orthology DOID:0050758 metabolic acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:939 BAG3 implicated_via_orthology DOID:3068 glioblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27301 CRTC2 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9582 PTAFR implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT implicated_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE implicated_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7458 MT-ND3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R implicated_via_orthology DOID:2526 prostate adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8153 OPRD1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA implicated_via_orthology DOID:0050200 Korean hemorrhagic fever ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 implicated_via_orthology DOID:0060189 ileitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2518 CTNS implicated_via_orthology DOID:1062 Fanconi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10935 SLC18A2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33762 RESP18 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5172 HR implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:35459 CCDC85C implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 implicated_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:9975 cocaine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL implicated_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6027 CXCR2 implicated_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6572 LGI1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27049 PLEKHA7 implicated_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:299 adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31547 MIR17 implicated_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2638 CYP3A5 implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL implicated_via_orthology DOID:4971 myelofibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5975 IL13RA2 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27049 PLEKHA7 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2160 CNR2 implicated_via_orthology DOID:848 arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23 ABAT implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6140 ITGA4 implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14294 SHANK3 implicated_via_orthology DOID:0080354 Phelan-McDermid syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 implicated_via_orthology DOID:1206 Rett syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU implicated_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 implicated_via_orthology DOID:9975 cocaine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR implicated_via_orthology DOID:4926 bronchiolo-alveolar adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8784 PDE5A implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33762 RESP18 implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL implicated_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 implicated_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 implicated_via_orthology DOID:3602 toxic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4600 GRM8 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 implicated_via_orthology DOID:4990 essential tremor ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12693 VIP implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11609 TBXAS1 implicated_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL implicated_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21535 GTPBP4 implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF implicated_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 implicated_via_orthology DOID:0050861 colorectal adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 implicated_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7669 NCOA2 implicated_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 implicated_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31624 MIR30A implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT implicated_via_orthology DOID:11650 bronchopulmonary dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2158 CNP implicated_via_orthology DOID:13001 carotid stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 implicated_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9395 PRKCB implicated_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY implicated_via_orthology DOID:1825 childhood absence epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12669 VDAC1 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 implicated_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31640 MIR7-3 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4964 HLA-G implicated_via_orthology DOID:0081267 graft-versus-host disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6115 IREB2 implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6277 KCNK2 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 implicated_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 implicated_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A implicated_via_orthology DOID:3247 rhabdomyosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7859 NMU implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9454 PROM1 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 implicated_via_orthology DOID:13544 low tension glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6278 KCNK3 implicated_via_orthology DOID:5453 pulmonary venoocclusive disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 implicated_via_orthology DOID:526 human immunodeficiency virus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20857 NANOG implicated_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:598 APLP2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 implicated_via_orthology DOID:5295 intestinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9080 PLN implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5381 IDE implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C implicated_via_orthology DOID:0050742 nicotine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4739 H2AX implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:117 ACO1 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 implicated_via_orthology DOID:3905 lung carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS implicated_via_orthology DOID:2986 IgA glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11158 SNRPD1 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 implicated_via_orthology DOID:1920 hyperuricemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 implicated_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30666 VHLL implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 implicated_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18359 SERPINA12 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ implicated_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 implicated_via_orthology DOID:11714 gestational diabetes ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX implicated_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 implicated_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 implicated_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 implicated_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 implicated_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL implicated_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE implicated_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4579 GRIK1 implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9395 PRKCB implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:680 tauopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:0050852 limb ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 implicated_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6971 MDH2 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18788 KLRK1 implicated_via_orthology DOID:4231 histiocytoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5154 HPGD implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1339 C6 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 implicated_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 implicated_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6767 SMAD1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6522 LCAT implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 implicated_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 implicated_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF implicated_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU implicated_via_orthology DOID:14018 alcoholic liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4963 HLA-F implicated_via_orthology DOID:0081267 graft-versus-host disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA implicated_via_orthology DOID:13207 proliferative diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 implicated_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12950 SF1 implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 implicated_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 implicated_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4289 GK implicated_via_orthology DOID:13810 familial hypercholesterolemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9412 PRKCZ implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23106 NANOGP8 implicated_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 implicated_via_orthology DOID:127 leiomyoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3573 FADD implicated_via_orthology DOID:11132 prostatic hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16731 FBXO32 implicated_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO implicated_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 implicated_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15667 MTPN implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 implicated_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2771 CFD implicated_via_orthology DOID:1556 arthus reaction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 implicated_via_orthology DOID:5425 ovarian hyperstimulation syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2501 CTH implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3546 F8 implicated_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:4029 gastritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:11713 diabetic angiopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5360 ID1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15766 ADNP implicated_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11120 SMPD1 implicated_via_orthology DOID:893 Wilson disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC implicated_via_orthology DOID:11132 prostatic hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 implicated_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6522 LCAT implicated_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12299 TRHR implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8528 OXT implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 implicated_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14946 PPP1R9A implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33940 NPS implicated_via_orthology DOID:2560 morphine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:620 APP implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC implicated_via_orthology DOID:2237 hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 implicated_via_orthology DOID:2518 orchitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:823 ATP5F1A implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH implicated_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:262 ADORA1 implicated_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13394 NPHS2 implicated_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA implicated_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 implicated_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 implicated_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:0080177 hepatic veno-occlusive disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 implicated_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6664 LOX implicated_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9612 PTK2B implicated_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 implicated_via_orthology DOID:9976 heroin dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12825 XPO1 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2422 CS implicated_via_orthology DOID:0050852 limb ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6664 LOX implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:42 ABCB11 implicated_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 implicated_via_orthology DOID:2452 thrombophilia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4739 H2AX implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS implicated_via_orthology DOID:0060108 brain glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:644 AR implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH implicated_via_orthology DOID:12466 secondary hyperparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:0050852 limb ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN implicated_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 implicated_via_orthology DOID:11713 diabetic angiopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16859 NOS1AP implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1774 CDK5 implicated_via_orthology DOID:12098 trigeminal neuralgia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9956 RELB implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4962 HLA-E implicated_via_orthology DOID:0081267 graft-versus-host disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1851 CENPA implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23 ABAT implicated_via_orthology DOID:2548 reflex epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:244 ADD2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10966 SLC22A2 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2388 CRYAA implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 implicated_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6694 LRP2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23099 NANOGP1 implicated_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11291 SRF implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 implicated_via_orthology DOID:1003 pelvic inflammatory disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:10605 short bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH implicated_via_orthology DOID:12679 nephrocalcinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 implicated_via_orthology DOID:3669 intermittent claudication ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 implicated_via_orthology DOID:3905 lung carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B implicated_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6224 KCNA5 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 implicated_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12693 VIP implicated_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1569 CCK implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6863 MAP4K1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9060 PLCD1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10571 SCD implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG implicated_via_orthology DOID:11204 allergic conjunctivitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 implicated_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 implicated_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5184 HRH3 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1515 CAST implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 implicated_via_orthology DOID:0060108 brain glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:576 APAF1 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 implicated_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5184 HRH3 implicated_via_orthology DOID:10914 amnestic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9956 RELB implicated_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA implicated_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 implicated_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU implicated_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2410 CRYGC implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1338 C5AR1 implicated_via_orthology DOID:1227 neutropenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4571 GRIA1 implicated_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18129 GHRL implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9253 PPIA implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7605 MYO6 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:352 AIF1 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 implicated_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7734 NEFM implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA implicated_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12441 TYMS implicated_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 implicated_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 implicated_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31530 MIR143 implicated_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8881 PFN1 implicated_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:14115 toxic shock syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1571 CCKBR implicated_via_orthology DOID:1793 pancreatic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9582 PTAFR implicated_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6522 LCAT implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 implicated_via_orthology DOID:1520 colon carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 implicated_via_orthology DOID:13593 eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 implicated_via_orthology DOID:5295 intestinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 implicated_via_orthology DOID:0040085 bacterial sepsis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7958 NPY5R implicated_via_orthology DOID:1825 childhood absence epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6530 LCT implicated_via_orthology DOID:13250 diarrhea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 implicated_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 implicated_via_orthology DOID:1407 anterior uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2160 CNR2 implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3797 FOSB implicated_via_orthology DOID:9976 heroin dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6769 SMAD3 implicated_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3166 LPAR1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX implicated_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9612 PTK2B implicated_via_orthology DOID:11713 diabetic angiopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT implicated_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF implicated_via_orthology DOID:2237 hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2422 CS implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B implicated_via_orthology DOID:3213 demyelinating disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4311 GCLC implicated_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN implicated_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC implicated_via_orthology DOID:76 stomach disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5184 HRH3 implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:616 APOH implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 implicated_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10963 SLC22A1 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA implicated_via_orthology DOID:76 stomach disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16952 TXNIP implicated_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M implicated_via_orthology DOID:583 hemolytic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1774 CDK5 implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 implicated_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 implicated_via_orthology DOID:8456 choline deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1874 CFL1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5287 HTR1B implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:616 APOH implicated_via_orthology DOID:0060903 thrombosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 implicated_via_orthology DOID:11247 disseminated intravascular coagulation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:784 ATF2 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:48357 KLRC4-KLRK1 implicated_via_orthology DOID:4231 histiocytoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10830 SH3GL1 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 implicated_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 implicated_via_orthology DOID:2671 transitional cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3393 EPHB2 implicated_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 implicated_via_orthology DOID:2044 drug-induced hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 implicated_via_orthology DOID:5295 intestinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12338 TRPC6 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA implicated_via_orthology DOID:11247 disseminated intravascular coagulation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8743 PCSK1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6621 LIPE implicated_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG implicated_via_orthology DOID:9778 irritable bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4056 G6PC1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8925 PHKA1 implicated_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9816 RAD50 implicated_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 implicated_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:13603 obstructive jaundice ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9060 PLCD1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6524 LCK implicated_via_orthology DOID:526 human immunodeficiency virus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29595 REG3G implicated_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7958 NPY5R implicated_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23 ABAT implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG implicated_via_orthology DOID:12140 Chagas disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5184 HRH3 implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5224 HSF1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:820 ATP4B implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 implicated_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 implicated_via_orthology DOID:13001 carotid stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6971 MDH2 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13394 NPHS2 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11140 SNCB implicated_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C implicated_via_orthology DOID:1470 major depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19 AANAT implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2357 CRHR1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 implicated_via_orthology DOID:750 peptic ulcer disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6839 MAP2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:668 RHOB implicated_via_orthology DOID:1909 melanoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7889 NOX1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15766 ADNP implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1337 KDM3B implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN implicated_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4468 UTS2R implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 implicated_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19288 ACMSD implicated_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11184 SORD implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11609 TBXAS1 implicated_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3288 EIF4EBP1 implicated_via_orthology DOID:13515 tuberous sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7661 NCF2 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18431 ACOT2 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18359 SERPINA12 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 implicated_via_orthology DOID:11247 disseminated intravascular coagulation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6972 MDK implicated_via_orthology DOID:4248 coronary stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32084 MIR494 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9287 PPP1R1B implicated_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2204 COL4A3 implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 implicated_via_orthology DOID:4306 radiculopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 implicated_via_orthology DOID:4481 allergic rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 implicated_via_orthology DOID:640 encephalomyelitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6150 ITGAV implicated_via_orthology DOID:11382 corneal neovascularization ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9287 PPP1R1B implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:823 ATP5F1A implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:13088 periventricular leukomalacia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2037 CLDN16 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA implicated_via_orthology DOID:9427 hypertensive encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6915 MB implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 implicated_via_orthology DOID:6195 conjunctivitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 implicated_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:784 ATF2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8541 P2RY2 implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B implicated_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3665 FGF1 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4432 GOT1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2195 COL18A1 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4324 GLP1R implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 implicated_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR implicated_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:262 ADORA1 implicated_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 implicated_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9449 PRNP implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5434 IFNB1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 implicated_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5343 ICA1 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24436 ACOT12 implicated_via_orthology DOID:3571 liver cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7670 NCOA3 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14358 IRX1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP implicated_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF implicated_via_orthology DOID:13948 bladder neck obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2358 CRHR2 implicated_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 implicated_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11609 TBXAS1 implicated_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24858 MFF implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 implicated_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9755 QPRT implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 implicated_via_orthology DOID:8283 peritonitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC implicated_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 implicated_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2422 CS implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4292 GK3 implicated_via_orthology DOID:13810 familial hypercholesterolemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA implicated_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9676 PTPRN implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:241 ADCYAP1 implicated_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 implicated_via_orthology DOID:1852 intrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10935 SLC18A2 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10000 RGS4 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 implicated_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10589 SCN2B implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9956 RELB implicated_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11178 SOAT2 implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6917 MBD2 implicated_via_orthology DOID:8456 choline deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12558 ULK1 implicated_via_orthology DOID:0080178 mucositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 implicated_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12338 TRPC6 implicated_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8601 REG3A implicated_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG implicated_via_orthology DOID:4481 allergic rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19353 SIN3A implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG implicated_via_orthology DOID:0050731 vitamin B12 deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 implicated_via_orthology DOID:2913 acute pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11609 TBXAS1 implicated_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1050 BID implicated_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15781 CHRFAM7A implicated_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11609 TBXAS1 implicated_via_orthology DOID:0060903 thrombosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B implicated_via_orthology DOID:0081267 graft-versus-host disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 implicated_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6783 MAG implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:347 AHNAK implicated_via_orthology DOID:417 autoimmune disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7956 NPY1R implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6285 KCNMB1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10013 GRK1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A implicated_via_orthology DOID:0081267 graft-versus-host disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 implicated_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 implicated_via_orthology DOID:14221 abdominal obesity-metabolic syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC implicated_via_orthology DOID:127 leiomyoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5224 HSF1 implicated_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4270 GIP implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5033 HNRNPA2B1 implicated_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14983 ZFP91 implicated_via_orthology DOID:9119 acute myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA implicated_via_orthology DOID:8283 peritonitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 implicated_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 implicated_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7957 NPY2R implicated_via_orthology DOID:1825 childhood absence epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2169 CNTF implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF implicated_via_orthology DOID:3612 retinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4606 PDIA3 implicated_via_orthology DOID:2048 autoimmune hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 implicated_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10860 ST6GAL1 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC implicated_via_orthology DOID:10140 dry eye syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 implicated_via_orthology DOID:2741 bilirubin metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 implicated_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11158 SNRPD1 implicated_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7611 MYOD1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 implicated_via_orthology DOID:0060903 thrombosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:897 AVPR2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:11247 disseminated intravascular coagulation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 implicated_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 implicated_via_orthology DOID:3905 lung carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:9778 irritable bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB implicated_via_orthology DOID:11516 hypertensive heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6839 MAP2 implicated_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6023 IL7 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH implicated_via_orthology DOID:1920 hyperuricemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 implicated_via_orthology DOID:1227 neutropenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11241 SPI1 implicated_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2537 CTSL implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9287 PPP1R1B implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:644 AR implicated_via_orthology DOID:2526 prostate adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9479 LONP1 implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14931 SIRT3 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG implicated_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6713 LTB4R implicated_via_orthology DOID:3407 carotid artery disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 implicated_via_orthology DOID:8719 in situ carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4236 GFER implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16696 SNW1 implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12298 TRH implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 implicated_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:51483 LINC02210-CRHR1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC implicated_via_orthology DOID:4247 coronary restenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 implicated_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT implicated_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 implicated_via_orthology DOID:3669 intermittent claudication ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 implicated_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5036 HNRNPD implicated_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF implicated_via_orthology DOID:12143 neurogenic bladder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14240 SMPD3 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6886 MAPK9 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:0080178 mucositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:837 ATP5F1D implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU implicated_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2538 CTSV implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 implicated_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 implicated_via_orthology DOID:12932 endomyocardial fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4933 HLA-C implicated_via_orthology DOID:0081267 graft-versus-host disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5294 HTR2B implicated_via_orthology DOID:4079 heart valve disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12693 VIP implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 implicated_via_orthology DOID:4914 esophagus adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9846 RAN implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:343 AHCY implicated_via_orthology DOID:8455 pyridoxine deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1346 C7 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11528 TACR3 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 implicated_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8743 PCSK1 implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6701 LRPAP1 implicated_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH implicated_via_orthology DOID:9993 hypoglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:1920 hyperuricemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2442 CSHL1 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 implicated_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER implicated_via_orthology DOID:12918 thromboangiitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD implicated_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1700 CD80 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17945 PRLH implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:550 AOC3 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23 ABAT implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11037 SLC5A2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9075 SERPINF2 implicated_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:417 ALDOB implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 implicated_via_orthology DOID:10286 prostate carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7956 NPY1R implicated_via_orthology DOID:1825 childhood absence epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11799 THRB implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:845 ATP5PD implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 implicated_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6269 KCNJ8 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6843 MAP2K3 implicated_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M implicated_via_orthology DOID:14115 toxic shock syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6664 LOX implicated_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12338 TRPC6 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 implicated_via_orthology DOID:1205 allergic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9287 PPP1R1B implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA implicated_via_orthology DOID:0050852 limb ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21732 ANTXR2 implicated_via_orthology DOID:7427 anthrax disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2422 CS implicated_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2440 CSH1 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9630 PTN implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7197 MOG implicated_via_orthology DOID:1210 optic neuritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT implicated_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:241 ADCYAP1 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 implicated_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11158 SNRPD1 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC implicated_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD implicated_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10911 SLC12A2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG implicated_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3402 EPHX2 implicated_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A implicated_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:117 ACO1 implicated_via_orthology DOID:1724 duodenal ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5208 HSD11B1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11609 TBXAS1 implicated_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12849 YWHAB implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20989 NMNAT3 implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23 ABAT implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 implicated_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 implicated_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 implicated_via_orthology DOID:13252 mesenteric vascular occlusion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 implicated_via_orthology DOID:8634 prostate carcinoma in situ ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 implicated_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9035 PLA2G4A implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 implicated_via_orthology DOID:11713 diabetic angiopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:395 ALAD implicated_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER implicated_via_orthology DOID:77 gastrointestinal system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF implicated_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 implicated_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11073 SLC9A3 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10886 SIRT2 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7517 MUC6 implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR implicated_via_orthology DOID:893 Wilson disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11985 TOMM70 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1338 C5AR1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC implicated_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10487 S100A10 implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA implicated_via_orthology DOID:4029 gastritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 implicated_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9726 PYGM implicated_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 implicated_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2441 CSH2 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH implicated_via_orthology DOID:0050459 hyperphosphatemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:263 ADORA2A implicated_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9445 PRL implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 implicated_via_orthology DOID:3910 lung adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 implicated_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13722 NUTF2 implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT implicated_via_orthology DOID:11247 disseminated intravascular coagulation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 implicated_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12672 VDAC2 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG implicated_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2160 CNR2 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3573 FADD implicated_via_orthology DOID:2560 morphine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 implicated_via_orthology DOID:4928 intrahepatic cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 implicated_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9479 LONP1 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 implicated_via_orthology DOID:0060903 thrombosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2020 CLCN2 implicated_via_orthology DOID:1485 cystic fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12516 UCN implicated_via_orthology DOID:12918 thromboangiitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:85 ACACB implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA implicated_via_orthology DOID:11396 pulmonary edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6972 MDK implicated_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8724 PCK1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 implicated_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:343 AHCY implicated_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10484 RYR2 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE implicated_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 implicated_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 implicated_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC implicated_via_orthology DOID:11801 protein-energy malnutrition ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6524 LCK implicated_via_orthology DOID:11204 allergic conjunctivitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 implicated_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12693 VIP implicated_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6876 MAPK14 implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6656 LNPEP implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 implicated_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF implicated_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A implicated_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8988 PIN1 implicated_via_orthology DOID:12466 secondary hyperparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5224 HSF1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL implicated_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 implicated_via_orthology DOID:8634 prostate carcinoma in situ ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9080 PLN implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5184 HRH3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 implicated_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12859 RNF103 implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4070 GABBR1 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 implicated_via_orthology DOID:5050 Ehrlich tumor carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 implicated_via_orthology DOID:13001 carotid stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU implicated_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF implicated_via_orthology DOID:0070355 overactive bladder syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1337 KDM3B implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:894 AVP implicated_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA implicated_via_orthology DOID:9588 encephalitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A implicated_via_orthology DOID:3905 lung carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6150 ITGAV implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 implicated_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3166 LPAR1 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 implicated_via_orthology DOID:3798 pleural empyema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9657 PTPN5 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG implicated_via_orthology DOID:0060108 brain glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 implicated_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5184 HRH3 implicated_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11291 SRF implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 implicated_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11030 SLC4A4 implicated_via_orthology DOID:12387 nephrogenic diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8744 PCSK2 implicated_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3012 DPYD implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12783 WNT4 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH implicated_via_orthology DOID:12678 hypercalcemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG implicated_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 implicated_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3188 EED implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11609 TBXAS1 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:713 ARSA implicated_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4262 GH2 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 implicated_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16711 TLR6 implicated_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL implicated_via_orthology DOID:14221 abdominal obesity-metabolic syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 implicated_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:830 ATP5F1B implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG implicated_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:319 ACAN implicated_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2358 CRHR2 implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:74 hematopoietic system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:686 liver carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX implicated_via_orthology DOID:2560 morphine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2023 CLCN5 implicated_via_orthology DOID:447 renal tubular transport disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP implicated_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 implicated_via_orthology DOID:13099 Moyamoya disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 implicated_via_orthology DOID:3910 lung adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:14018 alcoholic liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 implicated_via_orthology DOID:4928 intrahepatic cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4739 H2AX implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC implicated_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7174 MMP7 implicated_via_orthology DOID:10286 prostate carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:395 ALAD implicated_via_orthology DOID:2352 hemochromatosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4168 GAS6 implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 implicated_via_orthology DOID:2526 prostate adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 implicated_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 implicated_via_orthology DOID:865 vasculitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23059 BCAN implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT implicated_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4324 GLP1R implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A implicated_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9816 RAD50 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6971 MDH2 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12516 UCN implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5184 HRH3 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19004 CASP12 implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:84 ACACA implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE implicated_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14587 ING3 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 implicated_via_orthology DOID:893 Wilson disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6664 LOX implicated_via_orthology DOID:4247 coronary restenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2422 CS implicated_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11609 TBXAS1 implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 implicated_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:1924 hypogonadism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 implicated_via_orthology DOID:0050758 metabolic acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6517 LBP implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A implicated_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:604 APOBEC1 implicated_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5434 IFNB1 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG implicated_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6150 ITGAV implicated_via_orthology DOID:4248 coronary stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4600 GRM8 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG implicated_via_orthology DOID:5050 Ehrlich tumor carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9080 PLN implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:644 AR implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG implicated_via_orthology DOID:0060903 thrombosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31505 MIR125A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT implicated_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16935 ATG7 implicated_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA implicated_via_orthology DOID:823 periapical periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR implicated_via_orthology DOID:2044 drug-induced hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:4029 gastritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9596 PTGER4 implicated_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11161 SNRPE implicated_via_orthology DOID:0080162 lupus nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31505 MIR125A implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B implicated_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR implicated_via_orthology DOID:1724 duodenal ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12693 VIP implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 implicated_via_orthology DOID:0060108 brain glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1507 CASP6 implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8539 P2RY1 implicated_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4796 HAAO implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 implicated_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3537 F2R implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG implicated_via_orthology DOID:303 substance-related disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA implicated_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12672 VDAC2 implicated_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5351 ICOS implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 implicated_via_orthology DOID:14115 toxic shock syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN implicated_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 implicated_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10429 RPS6 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT implicated_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9395 PRKCB implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:894 AVP implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 implicated_via_orthology DOID:8283 peritonitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 implicated_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2169 CNTF implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS implicated_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG implicated_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 implicated_via_orthology DOID:0060496 respiratory allergy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:905 AXL implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 implicated_via_orthology DOID:0060903 thrombosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6263 KCNJ2 implicated_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5034 HNRNPAB implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 implicated_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6623 LIPG implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4399 RACK1 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9608 PTH1R implicated_via_orthology DOID:12678 hypercalcemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6877 MAPK3 implicated_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:13976 peptic esophagitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 implicated_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 implicated_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:706 ARPC3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 implicated_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:245 ADD3 implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6664 LOX implicated_via_orthology DOID:3393 coronary artery disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 implicated_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5237 HSPA4 implicated_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3528 F10 implicated_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 implicated_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:321 AGL implicated_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX implicated_via_orthology DOID:0060108 brain glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4600 GRM8 implicated_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 implicated_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH implicated_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A implicated_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 implicated_via_orthology DOID:4247 coronary restenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9612 PTK2B implicated_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 implicated_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD implicated_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 implicated_via_orthology DOID:0110339 osteogenesis imperfecta type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3557 FABP3 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 implicated_via_orthology DOID:11247 disseminated intravascular coagulation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:68 ABCD4 implicated_via_orthology DOID:0050731 vitamin B12 deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23214 EXOC7 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20194 POLR1C implicated_via_orthology DOID:2908 Treacher Collins syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10588 SCN2A implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15925 SAMHD1 implicated_via_orthology DOID:0050629 Aicardi-Goutieres syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 implicated_via_orthology DOID:1923 disorder of sexual development ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3756 FLNC implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22973 SBNO1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6718 LTBR implicated_via_orthology DOID:8893 psoriasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7526 MMUT implicated_via_orthology DOID:14749 methylmalonic acidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 biomarker_via_orthology DOID:11132 prostatic hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B biomarker_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 implicated_via_orthology DOID:10632 Wolfram syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10681 SDHB implicated_via_orthology DOID:0050773 paraganglioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1662 CD34 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26252 DNAI4 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN biomarker_via_orthology DOID:9588 encephalitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12638 UTY implicated_via_orthology DOID:0060473 Kabuki syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10310 RPL18 implicated_via_orthology DOID:1339 Diamond-Blackfan anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29110 KIAA0753 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21474 INPP5E implicated_via_orthology DOID:0050777 Joubert syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10327 RPL26 implicated_via_orthology DOID:1432 blindness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9457 PLPBP implicated_via_orthology DOID:0080769 early-onset vitamin B6-dependent epilepsy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4006 FUCA1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4042 FZD4 implicated_via_orthology DOID:0050535 exudative vitreoretinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11068 SLC8A1 implicated_via_orthology DOID:0060224 atrial fibrillation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 implicated_via_orthology DOID:0060894 early-onset Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6594 LHX2 implicated_via_orthology DOID:9650 pathologic nystagmus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25792 USB1 implicated_via_orthology DOID:0060551 poikiloderma with neutropenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27230 ESCO2 implicated_via_orthology DOID:5325 Roberts syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4221 GDF6 implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17022 HPS5 implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20581 CYP26B1 implicated_via_orthology DOID:2340 craniosynostosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:14221 abdominal obesity-metabolic syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37276 CRPPA implicated_via_orthology DOID:0050560 Walker-Warburg syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 biomarker_via_orthology DOID:0050865 tongue squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17563 METTL3 implicated_via_orthology DOID:5223 infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11762 TFR2 implicated_via_orthology DOID:0111030 hemochromatosis type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6293 KCNN4 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 implicated_via_orthology DOID:0050451 Brugada syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 implicated_via_orthology DOID:0050563 nonsyndromic deafness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:3482 plague ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33882 INPP5K implicated_via_orthology DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9673 PTPRJ implicated_via_orthology DOID:1588 thrombocytopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10436 RPS6KB1 biomarker_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD biomarker_via_orthology DOID:3669 intermittent claudication ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6551 LEF1 implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26530 CFAP53 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5227 HSF4 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:175 ACVRL1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 biomarker_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4394 GNAT2 implicated_via_orthology DOID:13911 achromatopsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21555 EYS implicated_via_orthology DOID:0050572 cone-rod dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18303 ATP6V1H implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6758 MAB21L2 implicated_via_orthology DOID:12270 coloboma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12731 WAS implicated_via_orthology DOID:9169 Wiskott-Aldrich syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:3247 rhabdomyosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30237 CC2D1A implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18016 NUP133 implicated_via_orthology DOID:0060364 Galloway-Mowat syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9717 PEX2 implicated_via_orthology DOID:905 Zellweger syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6594 LHX2 implicated_via_orthology DOID:9649 congenital nystagmus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10852 SHMT2 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:11650 bronchopulmonary dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3259 EIF2B3 implicated_via_orthology DOID:0060868 leukoencephalopathy with vanishing white matter ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3702 FHL1 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:8717 decubitus ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28887 LEMD3 implicated_via_orthology DOID:0060688 arteriovenous malformations of the brain ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9906 RBFOX2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10402 RPS19 implicated_via_orthology DOID:12449 aplastic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21708 CCM2 implicated_via_orthology DOID:0060669 cerebral cavernous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:9637 stomatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10696 EXOC5 implicated_via_orthology DOID:0080332 bicuspid aortic valve disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11605 TBX6 implicated_via_orthology DOID:0060249 scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18862 KCNH6 implicated_via_orthology DOID:0050793 short QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:396 ALAS1 biomarker_via_orthology DOID:13268 porphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 implicated_via_orthology DOID:0080883 vitamin D-dependent rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7550 MYBPC2 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:245 ADD3 implicated_via_orthology DOID:13608 biliary atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5249 HSPB7 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20041 ZNF408 implicated_via_orthology DOID:0050535 exudative vitreoretinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10537 SARS1 implicated_via_orthology DOID:0060688 arteriovenous malformations of the brain ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18423 DEPDC5 implicated_via_orthology DOID:2234 focal epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3388 EPHA4 biomarker_via_orthology DOID:3602 toxic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2074 CLN3 implicated_via_orthology DOID:0110731 neuronal ceroid lipofuscinosis 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 implicated_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31042 GREB1L implicated_via_orthology DOID:14766 renal agenesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3656 MYOF implicated_via_orthology DOID:11724 limb-girdle muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 biomarker_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA implicated_via_orthology DOID:3265 chronic granulomatous disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11577 TAFAZZIN implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:1407 anterior uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4241 GFPT1 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6514 LATS1 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30554 CCL3L3 biomarker_via_orthology DOID:1407 anterior uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8926 PHKA2 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19291 CSMD3 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4065 GAA implicated_via_orthology DOID:2752 glycogen storage disease II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17341 TRNT1 implicated_via_orthology DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2468 SMC3 implicated_via_orthology DOID:11725 Cornelia de Lange syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6010 IL2RG implicated_via_orthology DOID:627 severe combined immunodeficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 implicated_via_orthology DOID:0050539 Charcot-Marie-Tooth disease type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:877 ALDH7A1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7224 MPV17 implicated_via_orthology DOID:0070329 mitochondrial DNA depletion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1391 CACNA1D implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15608 NOLC1 implicated_via_orthology DOID:2908 Treacher Collins syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3062 DUOX1 implicated_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8787 PDE6C implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3321 ELK1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4087 GABRG2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21539 RBM24 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29813 SAP130 implicated_via_orthology DOID:9955 hypoplastic left heart syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A implicated_via_orthology DOID:1838 Menkes disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2442 CSHL1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9055 PLCB2 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10936 SLC18A3 biomarker_via_orthology DOID:365 bladder disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 implicated_via_orthology DOID:2280 hidradenitis suppurativa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7408 MT3 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25323 LRP5L implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25323 LRP5L implicated_via_orthology DOID:0050563 nonsyndromic deafness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3097 DYSF implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2388 CRYAA implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16853 IPO13 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14584 VPS16 implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19902 RRAGC implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14262 AUTS2 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1434 CALB1 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24624 SIL1 implicated_via_orthology DOID:0080195 Marinesco-Sjogren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:14004 thoracic aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4330 GLRX biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16466 SUFU biomarker_via_orthology DOID:3073 brain glioblastoma multiforme ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1393 CACNA1F implicated_via_orthology DOID:0050534 congenital stationary night blindness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:877 ALDH7A1 implicated_via_orthology DOID:0080768 pyridoxine-dependent epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21904 NCAPG2 implicated_via_orthology DOID:0050737 autosomal recessive disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13436 RPGRIP1 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2603 CYP26A1 implicated_via_orthology DOID:4621 holoprosencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6486 LAMB1 implicated_via_orthology DOID:12270 coloboma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9811 RAD21 implicated_via_orthology DOID:11725 Cornelia de Lange syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 implicated_via_orthology DOID:12347 osteogenesis imperfecta ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13202 ADAMTS9 implicated_via_orthology DOID:0060249 scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 biomarker_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29242 SH3PXD2B implicated_via_orthology DOID:0111789 Frank-Ter Haar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28303 ODAD3 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4135 GALT implicated_via_orthology DOID:9870 galactosemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33742 CAVIN4 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16262 YAP1 implicated_via_orthology DOID:12270 coloboma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30260 PNPO implicated_via_orthology DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17200 LRRN3 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7865 NODAL implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2884 DIO2 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2890 DKC1 implicated_via_orthology DOID:2729 dyskeratosis congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:618 APOL1 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 biomarker_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17978 B3GALT6 implicated_via_orthology DOID:13359 Ehlers-Danlos syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11796 THRA implicated_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2440 CSH1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2737 DDX12P implicated_via_orthology DOID:0060535 Warsaw breakage syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10545 MSMO1 implicated_via_orthology DOID:2581 chondrodysplasia punctata ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18539 STX1B implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5224 HSF1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2211 COL6A1 implicated_via_orthology DOID:0050557 congenital muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18121 MFRP implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29331 EPG5 implicated_via_orthology DOID:0060356 Vici syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13315 HDAC8 implicated_via_orthology DOID:11725 Cornelia de Lange syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9811 RAD21 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13315 HDAC8 biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:103 CNNM2 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29511 CEP131 implicated_via_orthology DOID:1935 Bardet-Biedl syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10923 SLC16A2 implicated_via_orthology DOID:0050631 Allan-Herndon-Dudley syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21998 SSPOP implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10594 SCN7A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30260 PNPO implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30497 KIF7 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2638 CYP3A5 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6065 INHA biomarker_via_orthology DOID:2696 Leydig cell tumor ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11061 SLC7A3 implicated_via_orthology DOID:9455 lipid storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30650 STRA6 implicated_via_orthology DOID:0111807 syndromic microphthalmia 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4021 KDSR implicated_via_orthology DOID:409 liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17213 COLEC11 implicated_via_orthology DOID:674 cleft palate ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8616 PAX2 implicated_via_orthology DOID:12270 coloboma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11604 TBX5 implicated_via_orthology DOID:0060468 Holt-Oram syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:362 AK2 implicated_via_orthology DOID:0060020 reticular dysgenesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:576 APAF1 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 implicated_via_orthology DOID:0050644 arterial calcification of infancy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21143 ZBTB24 implicated_via_orthology DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20581 CYP26B1 implicated_via_orthology DOID:2256 osteochondrodysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10274 RP2 implicated_via_orthology DOID:0110415 retinitis pigmentosa 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1744 CDC6 implicated_via_orthology DOID:0060306 Meier-Gorlin syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14674 PCDH15 implicated_via_orthology DOID:0110832 Usher syndrome type 1F ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7448 MTM1 implicated_via_orthology DOID:14717 centronuclear myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:38606 BECN2 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4162 GARS1 implicated_via_orthology DOID:0050539 Charcot-Marie-Tooth disease type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1573 KRIT1 implicated_via_orthology DOID:0080491 cerebral cavernous malformation 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 implicated_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29421 AGAP11 implicated_via_orthology DOID:1969 cerebral palsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18864 KCNH8 biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4326 GLRA1 implicated_via_orthology DOID:0060695 hyperekplexia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 biomarker_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12874 ZIC3 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA implicated_via_orthology DOID:484 vascular hemostatic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11577 TAFAZZIN implicated_via_orthology DOID:0050476 Barth syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:1035 aggressive NK-cell leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20670 TWIST2 implicated_via_orthology DOID:0060550 ablepharon macrostomia syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16398 OSBPL1A implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11653 TCN2 implicated_via_orthology DOID:0050731 vitamin B12 deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20043 GEMIN5 implicated_via_orthology DOID:0050753 cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 biomarker_via_orthology DOID:7725 epilepsy with generalized tonic-clonic seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29022 SPECC1L implicated_via_orthology DOID:0050567 orofacial cleft ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8082 NYX implicated_via_orthology DOID:0110870 congenital stationary night blindness 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7908 NPHS1 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17328 DTNBP1 implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3037 DSC3 implicated_via_orthology DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1067 BMP1 implicated_via_orthology DOID:12347 osteogenesis imperfecta ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25897 MFSD2A implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28423 STAC3 implicated_via_orthology DOID:0060346 Native American myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9537 PSMB1 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:103 CNNM2 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:60 ABCC9 implicated_via_orthology DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12015 TPO implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL implicated_via_orthology DOID:2226 myeloproliferative neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10896 SKI implicated_via_orthology DOID:2340 craniosynostosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC biomarker_via_orthology DOID:1724 duodenal ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX implicated_via_orthology DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 implicated_via_orthology DOID:899 choledochal cyst ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 implicated_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11497 SYNGAP1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 implicated_via_orthology DOID:14320 generalized anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4433 GOT2 implicated_via_orthology DOID:0080715 developmental and epileptic encephalopathy 82 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4444 GP9 implicated_via_orthology DOID:2217 Bernard-Soulier syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17264 POLR1A implicated_via_orthology DOID:0060353 acrofacial dysostosis Cincinnati type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13273 DUOX2 implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10853 SHOX implicated_via_orthology DOID:5688 Werner syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2770 DES implicated_via_orthology DOID:0080092 myofibrillar myopathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30649 CCDC80 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8114 ODF2 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9618 PTK7 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12791 WRN implicated_via_orthology DOID:5688 Werner syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:11650 bronchopulmonary dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3817 FOXL1 implicated_via_orthology DOID:12185 otosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12657 VAV1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:0001816 angiosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6724 LUM implicated_via_orthology DOID:11830 myopia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10402 RPS19 implicated_via_orthology DOID:1339 Diamond-Blackfan anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23526 MCU implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A implicated_via_orthology DOID:0110827 Usher syndrome type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG implicated_via_orthology DOID:1270 hereditary hemorrhagic telangiectasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30391 IFT172 implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9811 RAD21 implicated_via_orthology DOID:1319 brain cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26953 BLTP1 implicated_via_orthology DOID:0111555 Alkuraya-Kucinskas syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15868 ABHD12 implicated_via_orthology DOID:0080181 PHARC syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12874 ZIC3 implicated_via_orthology DOID:0080016 spina bifida ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29253 CC2D2A implicated_via_orthology DOID:0050777 Joubert syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14101 CNOT7 biomarker_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3513 EXT2 implicated_via_orthology DOID:206 hereditary multiple exostoses ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10701 SEC23A implicated_via_orthology DOID:0070307 craniolenticulosutural dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4115 GALC implicated_via_orthology DOID:1909 melanoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4075 GABRA1 implicated_via_orthology DOID:7725 epilepsy with generalized tonic-clonic seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11799 THRB implicated_via_orthology DOID:11633 thyroid hormone resistance syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:73 ABCG1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5389 IDS implicated_via_orthology DOID:12799 mucopolysaccharidosis II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1529 CAV3 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 biomarker_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1594 CCNH biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20087 TTC8 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2860 DHCR7 implicated_via_orthology DOID:14692 Smith-Lemli-Opitz syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4879 HEXB implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23791 INF2 implicated_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3035 DSC1 implicated_via_orthology DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 implicated_via_orthology DOID:0110042 Alzheimer's disease 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 implicated_via_orthology DOID:0050644 arterial calcification of infancy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 biomarker_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3756 FLNC implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30539 DNAAF1 implicated_via_orthology DOID:5557 testicular germ cell cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13709 DEGS1 implicated_via_orthology DOID:0060786 hypomyelinating leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30262 PYCR2 implicated_via_orthology DOID:0070137 autosomal recessive cutis laxa type IIB ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6482 LAMA2 implicated_via_orthology DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3483 ETFDH implicated_via_orthology DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21231 DACT2 implicated_via_orthology DOID:4905 pancreatic carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4043 FZD5 implicated_via_orthology DOID:12270 coloboma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7897 NPC1 implicated_via_orthology DOID:0070113 Niemann-Pick disease type C1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8016 NSF implicated_via_orthology DOID:0050632 oculocutaneous albinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11133 SNAP29 implicated_via_orthology DOID:0060337 CEDNIK syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 implicated_via_orthology DOID:13515 tuberous sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4262 GH2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25481 TRMU implicated_via_orthology DOID:2952 inner ear disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10911 SLC12A2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20566 SV2A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9721 PYCR1 implicated_via_orthology DOID:0070137 autosomal recessive cutis laxa type IIB ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 biomarker_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20626 CHD7 implicated_via_orthology DOID:0050834 CHARGE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15894 PANK2 implicated_via_orthology DOID:3981 pantothenate kinase-associated neurodegeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14870 APOL6 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10588 SCN2A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1067 BMP1 implicated_via_orthology DOID:0110342 osteogenesis imperfecta type 13 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD implicated_via_orthology DOID:583 hemolytic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21082 SEC63 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29670 GNPTAB implicated_via_orthology DOID:0080070 mucolipidosis II alpha/beta ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10590 SCN3A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 biomarker_via_orthology DOID:13603 obstructive jaundice ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33882 INPP5K implicated_via_orthology DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:967 BBS2 implicated_via_orthology DOID:1935 Bardet-Biedl syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11233 SPAST implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7108 MKKS implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28337 C9orf72 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A implicated_via_orthology DOID:0070309 absence epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 implicated_via_orthology DOID:9835 refractive error ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:3012 Li-Fraumeni syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8590 PAK1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN implicated_via_orthology DOID:12306 vitiligo ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27405 NPNT implicated_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7380 MST1 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6825 MAN2A2 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4604 CXCL3 biomarker_via_orthology DOID:11650 bronchopulmonary dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 implicated_via_orthology DOID:1206 Rett syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3315 ELAVL4 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2025 CLCN7 implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2211 COL6A1 implicated_via_orthology DOID:0050558 Ullrich congenital muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11301 SRP54 implicated_via_orthology DOID:0060479 Shwachman-Diamond syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR implicated_via_orthology DOID:0050632 oculocutaneous albinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29262 IFT80 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25641 RNLS biomarker_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11204 SOX9 implicated_via_orthology DOID:0050463 campomelic dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:343 AHCY implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17870 INVS implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:0090116 spondylocarpotarsal synostosis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 biomarker_via_orthology DOID:9976 heroin dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11860 TM6SF1 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR implicated_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4394 GNAT2 implicated_via_orthology DOID:0050572 cone-rod dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2328 CPT1A biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2843 DGAT1 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL implicated_via_orthology DOID:3490 Noonan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33154 ELFN1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23463 AGAP9 implicated_via_orthology DOID:1969 cerebral palsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:428 ALMS1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6696 LRP4 implicated_via_orthology DOID:0080006 bone development disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 implicated_via_orthology DOID:12347 osteogenesis imperfecta ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15954 TOE1 implicated_via_orthology DOID:0060264 pontocerebellar hypoplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10590 SCN3A implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2518 CTNS implicated_via_orthology DOID:1064 cystinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:66 muscle tissue disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:969 BBS4 implicated_via_orthology DOID:1935 Bardet-Biedl syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1874 CFL1 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2592 CYP11B2 implicated_via_orthology DOID:0050811 congenital adrenal hyperplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7827 NIPSNAP1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30454 RRP7BP implicated_via_orthology DOID:0070297 primary microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 implicated_via_orthology DOID:0050558 Ullrich congenital muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4243 GFRA1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2204 COL4A3 implicated_via_orthology DOID:10983 Alport syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:175 ACVRL1 implicated_via_orthology DOID:11294 arteriovenous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13601 FBXL4 implicated_via_orthology DOID:0080131 mitochondrial DNA depletion syndrome 13 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8108 OCRL implicated_via_orthology DOID:1056 oculocerebrorenal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19440 SBDS implicated_via_orthology DOID:0060479 Shwachman-Diamond syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7603 MYO5B implicated_via_orthology DOID:0060775 microvillus inclusion disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11634 TCF4 implicated_via_orthology DOID:0060488 Pitt-Hopkins syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10597 SCN9A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11118 SMN2 implicated_via_orthology DOID:12377 spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17050 RPL26L1 implicated_via_orthology DOID:1432 blindness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2211 COL6A1 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21689 FIS1 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11190 SOX10 implicated_via_orthology DOID:9258 Waardenburg syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL implicated_via_orthology DOID:4467 clear cell renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23465 AGAP7P implicated_via_orthology DOID:1969 cerebral palsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3481 ETFA implicated_via_orthology DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12591 UROD implicated_via_orthology DOID:5230 hepatoerythropoietic porphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10586 SCN1B biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14294 SHANK3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13417 PPP2R3B implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28862 NIPBL implicated_via_orthology DOID:11725 Cornelia de Lange syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2267 COX5A implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7979 NR3C2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1955 CHRNA1 implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5346 ICAM3 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:678 ARHGDIA implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9618 PTK7 implicated_via_orthology DOID:0060249 scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14539 RNF213 implicated_via_orthology DOID:0060669 cerebral cavernous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1181 MYRF implicated_via_orthology DOID:5614 eye disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10879 STIL implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18318 ASXL1 implicated_via_orthology DOID:2226 myeloproliferative neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 implicated_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3169 S1PR2 implicated_via_orthology DOID:305 carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20862 SLC39A8 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16853 IPO13 implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2941 DNAH10 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20564 MBNL3 implicated_via_orthology DOID:450 myotonic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18620 COG4 implicated_via_orthology DOID:0111673 Saul-Wilson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:969 BBS4 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4689 GUCY2D implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20454 POLR1B implicated_via_orthology DOID:2908 Treacher Collins syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14880 GTPBP3 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14262 AUTS2 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25006 METTL5 implicated_via_orthology DOID:0080765 autosomal recessive intellectual developmental disorder 72 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6857 MAP3K5 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33154 ELFN1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30988 BNC2 implicated_via_orthology DOID:5200 urinary tract obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15454 SHOC2 implicated_via_orthology DOID:0080691 Noonan syndrome-like disorder with loose anagen hair ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:343 AHCY implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11061 SLC7A3 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4083 GABRB3 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26200 STN1 implicated_via_orthology DOID:1272 telangiectasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10301 RPL11 implicated_via_orthology DOID:1339 Diamond-Blackfan anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1941 CHML implicated_via_orthology DOID:9821 choroideremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16472 SLC45A2 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25622 TBC1D23 implicated_via_orthology DOID:0060264 pontocerebellar hypoplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3036 DSC2 implicated_via_orthology DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 biomarker_via_orthology DOID:583 hemolytic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10471 RUNX1 biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11444 STXBP1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8974 PIK3C3 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7216 MPI implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:966 BBS1 implicated_via_orthology DOID:1935 Bardet-Biedl syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2736 DDX11 implicated_via_orthology DOID:0060535 Warsaw breakage syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6649 LMOD3 implicated_via_orthology DOID:3191 nemaline myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2441 CSH2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23066 TRAPPC6B implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24502 WDR62 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4433 GOT2 implicated_via_orthology DOID:0050709 early infantile epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11359 STAR biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9082 PLOD2 implicated_via_orthology DOID:0060231 Bruck syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9537 PSMB1 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11246 SPINT1 implicated_via_orthology DOID:8893 psoriasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7569 MYH11 implicated_via_orthology DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4315 GLE1 implicated_via_orthology DOID:0060559 lethal congenital contracture syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29101 ANKLE2 implicated_via_orthology DOID:0070289 primary autosomal recessive microcephaly 16 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10727 SEMA3E implicated_via_orthology DOID:0050834 CHARGE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30539 DNAAF1 implicated_via_orthology DOID:4440 seminoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9354 PRDX3 biomarker_via_orthology DOID:10603 glucose intolerance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:233 ADCY2 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8082 NYX implicated_via_orthology DOID:0050534 congenital stationary night blindness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN implicated_via_orthology DOID:0060224 atrial fibrillation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15454 SHOC2 implicated_via_orthology DOID:0080690 RASopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:428 ALMS1 implicated_via_orthology DOID:0050473 Alstrom syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15761 OSBPL2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET biomarker_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 implicated_via_orthology DOID:1088 meningocele ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20984 BLOC1S2 implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30391 IFT172 implicated_via_orthology DOID:2975 cystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA implicated_via_orthology DOID:2236 congenital afibrinogenemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10616 CCL18 biomarker_via_orthology DOID:1407 anterior uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7853 NME5 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1863 CES1 biomarker_via_orthology DOID:3571 liver cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 implicated_via_orthology DOID:627 severe combined immunodeficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 biomarker_via_orthology DOID:2154 nephroblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7013 MEOX1 implicated_via_orthology DOID:10426 Klippel-Feil syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30422 SHROOM3 implicated_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 biomarker_via_orthology DOID:3042 allergic contact dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11701 CRIPTO implicated_via_orthology DOID:0080074 neural tube defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 implicated_via_orthology DOID:1172 hyperlipoproteinemia type IV ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 implicated_via_orthology DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32700 CCDC103 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12347 TRRAP implicated_via_orthology DOID:0050564 autosomal dominant nonsyndromic deafness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15685 B4GAT1 implicated_via_orthology DOID:0050560 Walker-Warburg syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6224 KCNA5 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20422 POLR1D implicated_via_orthology DOID:2908 Treacher Collins syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 implicated_via_orthology DOID:8955 sideroblastic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10628 CCL3L1 biomarker_via_orthology DOID:1407 anterior uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2073 TPP1 implicated_via_orthology DOID:0110726 neuronal ceroid lipofuscinosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1713 CDAN1 implicated_via_orthology DOID:0111396 congenital dyserythropoietic anemia type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17022 HPS5 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4135 GALT implicated_via_orthology DOID:0111459 classic galactosemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10588 SCN2A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5163 HPS1 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3817 FOXL1 implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16090 PGRMC1 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1912 CHAT implicated_via_orthology DOID:3635 congenital myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30858 EFTUD2 implicated_via_orthology DOID:2908 Treacher Collins syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:583 APC implicated_via_orthology DOID:0050424 familial adenomatous polyposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4267 GHSR biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL implicated_via_orthology DOID:0060474 familial erythrocytosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1769 CDIPT implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2896 DLAT implicated_via_orthology DOID:3649 pyruvate decarboxylase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR implicated_via_orthology DOID:1485 cystic fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:619 APOL2 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10387 RPS14 implicated_via_orthology DOID:0090016 chromosome 5q deletion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24286 RRP7A implicated_via_orthology DOID:0070297 primary microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13356 MCOLN1 implicated_via_orthology DOID:0080490 mucolipidosis type IV ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 implicated_via_orthology DOID:0080883 vitamin D-dependent rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23228 CPAMD8 implicated_via_orthology DOID:0060648 anterior segment dysgenesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14540 WNK1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16940 DGAT2 biomarker_via_orthology DOID:10787 premature menopause ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15972 VPS18 implicated_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2698 DBT implicated_via_orthology DOID:9269 maple syrup urine disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9280 PPOX implicated_via_orthology DOID:4346 variegate porphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13556 IFT122 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23467 AGAP5 implicated_via_orthology DOID:1969 cerebral palsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11861 TM6SF2 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19205 STIM2 implicated_via_orthology DOID:936 brain disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21555 EYS implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1917 CHD2 implicated_via_orthology DOID:0060475 myoclonic-atonic epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A implicated_via_orthology DOID:0110838 Usher syndrome type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13394 NPHS2 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11703 CRIPTO3 implicated_via_orthology DOID:0080074 neural tube defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10303 RPL13 implicated_via_orthology DOID:0080027 spondyloepimetaphyseal dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29160 FASTKD2 implicated_via_orthology DOID:0060286 combined oxidative phosphorylation deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24931 ZC4H2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17649 POPDC3 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B implicated_via_orthology DOID:8893 psoriasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26090 CCDC40 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11776 TGIF1 implicated_via_orthology DOID:4621 holoprosencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 implicated_via_orthology DOID:0050777 Joubert syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10896 SKI implicated_via_orthology DOID:2340 craniosynostosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:242 ADCYAP1R1 implicated_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21726 ARHGEF17 implicated_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19959 TOGARAM1 implicated_via_orthology DOID:0050777 Joubert syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30910 VWA1 implicated_via_orthology DOID:231 motor neuron disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23466 AGAP6 implicated_via_orthology DOID:1969 cerebral palsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL implicated_via_orthology DOID:14175 von Hippel-Lindau disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6269 KCNJ8 implicated_via_orthology DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:633 AQP1 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6563 LGALS3 biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11960 GIGYF2 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11065 SLC7A7 implicated_via_orthology DOID:0060439 lysinuric protein intolerance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24555 INTS1 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11029 SLC4A3 implicated_via_orthology DOID:0050793 short QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 biomarker_via_orthology DOID:178 vascular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:3393 coronary artery disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7908 NPHS1 implicated_via_orthology DOID:0080390 nephrotic syndrome type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20869 BMP10 implicated_via_orthology DOID:1270 hereditary hemorrhagic telangiectasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8951 SERPINE2 biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 implicated_via_orthology DOID:0050811 congenital adrenal hyperplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1491 CAPZB implicated_via_orthology DOID:674 cleft palate ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10590 SCN3A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28913 HSCB implicated_via_orthology DOID:8955 sideroblastic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21043 PITPNM3 implicated_via_orthology DOID:0060688 arteriovenous malformations of the brain ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10909 SLC40A1 implicated_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22963 MED24 implicated_via_orthology DOID:870 neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 implicated_via_orthology DOID:13636 Fanconi anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11444 STXBP1 implicated_via_orthology DOID:0050709 early infantile epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28570 DNAAF6 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18859 SPHK2 implicated_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3261 EIF2B5 implicated_via_orthology DOID:0060868 leukoencephalopathy with vanishing white matter ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28296 DYNC2I2 implicated_via_orthology DOID:0080074 neural tube defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14880 GTPBP3 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2709 DCT implicated_via_orthology DOID:0050632 oculocutaneous albinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10940 SLC1A2 implicated_via_orthology DOID:0080442 developmental and epileptic encephalopathy 41 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D implicated_via_orthology DOID:0060473 Kabuki syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL implicated_via_orthology DOID:0090118 congenital amegakaryocytic thrombocytopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28303 ODAD3 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11075 NHERF1 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4637 GSTM5 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9462 PRPS1 implicated_via_orthology DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11301 SRP54 implicated_via_orthology DOID:1227 neutropenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 implicated_via_orthology DOID:14261 fragile X syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11795 THPO implicated_via_orthology DOID:1588 thrombocytopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21067 SMYD4 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:888 KIF1A biomarker_via_orthology DOID:0050890 synucleinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:61 ABCD1 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC biomarker_via_orthology DOID:4483 rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33939 CLRN2 implicated_via_orthology DOID:0050565 autosomal recessive nonsyndromic deafness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24054 KNL1 implicated_via_orthology DOID:0070297 primary microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9005 PITX2 implicated_via_orthology DOID:14686 Axenfeld-Rieger syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3800 FOXC1 implicated_via_orthology DOID:14686 Axenfeld-Rieger syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23377 FOCAD implicated_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6482 LAMA2 implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21539 RBM24 implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31923 LCA5 implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:939 BAG3 implicated_via_orthology DOID:0080097 myofibrillar myopathy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:39433 PRSS56 implicated_via_orthology DOID:9835 refractive error ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R implicated_via_orthology DOID:1227 neutropenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11086 SLIT2 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1161 CEP55 implicated_via_orthology DOID:4626 hydranencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24555 INTS1 implicated_via_orthology DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16781 NPL implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21604 EPN1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:773 ASTN1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7720 NEB implicated_via_orthology DOID:3191 nemaline myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25792 USB1 implicated_via_orthology DOID:0060550 ablepharon macrostomia syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22963 MED24 implicated_via_orthology DOID:5295 intestinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13273 DUOX2 implicated_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11042 SLC6A1 biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25248 CRISPLD2 implicated_via_orthology DOID:0050567 orofacial cleft ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI biomarker_via_orthology DOID:0060224 atrial fibrillation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6774 SMAD9 implicated_via_orthology DOID:0060688 arteriovenous malformations of the brain ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3005 DPM1 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 implicated_via_orthology DOID:0080883 vitamin D-dependent rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:811 ATP2A1 implicated_via_orthology DOID:0050692 Brody myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13941 SLC44A4 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14868 APOL3 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6515 LATS2 implicated_via_orthology DOID:3193 peripheral nerve sheath neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21231 DACT2 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10597 SCN9A implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 implicated_via_orthology DOID:14118 familial lipoprotein lipase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6512 LARS1 implicated_via_orthology DOID:0080717 infantile liver failure syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9413 PRKDC implicated_via_orthology DOID:627 severe combined immunodeficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18121 MFRP implicated_via_orthology DOID:9834 hyperopia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1987 CITED2 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2884 DIO2 implicated_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18862 KCNH6 implicated_via_orthology DOID:0110645 long QT syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4819 HAS2 biomarker_via_orthology DOID:9409 diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9314 PPP3CA biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP implicated_via_orthology DOID:0080883 vitamin D-dependent rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:85 ACACB biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:575 AP4S1 implicated_via_orthology DOID:0110804 hereditary spastic paraplegia 52 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29090 SMCHD1 implicated_via_orthology DOID:9574 choanal atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8845 PER1 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9549 PSMC3 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 implicated_via_orthology DOID:0080325 tuberous sclerosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30539 DNAAF1 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21998 SSPOP implicated_via_orthology DOID:0060249 scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16746 MBNL2 implicated_via_orthology DOID:450 myotonic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:0080199 colorectal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7691 NDUFA7 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7121 MKS1 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30539 DNAAF1 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31566 MIR195 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B biomarker_via_orthology DOID:3312 bipolar disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:54 ABCC3 biomarker_via_orthology DOID:12700 hyperprolactinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2973 DNM1L biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8861 PF4 implicated_via_orthology DOID:0080883 vitamin D-dependent rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9201 POMC implicated_via_orthology DOID:11613 hyperandrogenism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4429 GOLGB1 implicated_via_orthology DOID:0111063 hyperphosphatemic familial tumoral calcinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15946 RP1L1 implicated_via_orthology DOID:5614 eye disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2359 CRIM1 implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2799 GRHL2 implicated_via_orthology DOID:0050564 autosomal dominant nonsyndromic deafness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8785 PDE6A implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4634 GSTM2 implicated_via_orthology DOID:0050451 Brugada syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6269 KCNJ8 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 biomarker_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR implicated_via_orthology DOID:0080883 vitamin D-dependent rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:42 ABCB11 implicated_via_orthology DOID:0070222 progressive familial intrahepatic cholestasis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3395 EPHB4 implicated_via_orthology DOID:75 lymphatic system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3233 MEGF8 implicated_via_orthology DOID:0060234 Carpenter syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29262 IFT80 implicated_via_orthology DOID:0110086 asphyxiating thoracic dystrophy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17994 TRPM7 implicated_via_orthology DOID:0050824 sinoatrial node disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30237 CC2D1A implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9586 PTCH2 implicated_via_orthology DOID:12270 coloboma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21231 DACT2 implicated_via_orthology DOID:4897 bile duct carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17944 EXOSC3 implicated_via_orthology DOID:0060266 pontocerebellar hypoplasia type 1B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15582 MUC16 biomarker_via_orthology DOID:4001 ovarian carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2206 COL4A4 implicated_via_orthology DOID:10983 Alport syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR implicated_via_orthology DOID:74 hematopoietic system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27405 NPNT implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33778 MYMK implicated_via_orthology DOID:0080194 Carey-Fineman-Ziter syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25787 CENPT implicated_via_orthology DOID:0050569 Seckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R implicated_via_orthology DOID:0050590 severe congenital neutropenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19412 ZMYND10 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A implicated_via_orthology DOID:0060473 Kabuki syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:170 ACTR3 biomarker_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4200 BLOC1S1 implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4172 GATA3 implicated_via_orthology DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28482 DYNLT2B implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1161 CEP55 implicated_via_orthology DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6259 KCNJ13 implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8527 OXCT1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21086 MIB1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 implicated_via_orthology DOID:0080883 vitamin D-dependent rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10935 SLC18A2 implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11117 SMN1 implicated_via_orthology DOID:12377 spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12874 ZIC3 implicated_via_orthology DOID:0060856 right atrial isomerism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:750 peptic ulcer disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20908 DZIP1 implicated_via_orthology DOID:12270 coloboma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:952 BARD1 biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10332 RPL3 implicated_via_orthology DOID:0060479 Shwachman-Diamond syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14378 NOP10 implicated_via_orthology DOID:2729 dyskeratosis congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11190 SOX10 implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30213 ATP13A2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17349 PRPF4 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15511 VANGL2 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10597 SCN9A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8768 AIFM1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37101 DDX11L8 implicated_via_orthology DOID:0060535 Warsaw breakage syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11075 NHERF1 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 implicated_via_orthology DOID:12583 velocardiofacial syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 implicated_via_orthology DOID:1926 Gaucher's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29824 MYL11 implicated_via_orthology DOID:0111597 distal arthrogryposis type 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7549 MYBPC1 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25419 ARL13B implicated_via_orthology DOID:0111003 Joubert syndrome 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9411 PRKCSH implicated_via_orthology DOID:0050770 polycystic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19819 EPB41L5 implicated_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:863 ATP6V0E1 implicated_via_orthology DOID:1432 blindness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27310 FLCN implicated_via_orthology DOID:0050676 Birt-Hogg-Dube syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13530 RXYLT1 implicated_via_orthology DOID:0050560 Walker-Warburg syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12605 CLRN1 implicated_via_orthology DOID:0050439 Usher syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9115 PMM2 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9549 PSMC3 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8848 PES1 implicated_via_orthology DOID:0060479 Shwachman-Diamond syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11191 SOX11 implicated_via_orthology DOID:1925 Coffin-Siris syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23419 KIFBP implicated_via_orthology DOID:0060481 Goldberg-Shprintzen syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13606 KDM2A implicated_via_orthology DOID:1909 melanoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26658 POC5 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1382 CA8 implicated_via_orthology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN biomarker_via_orthology DOID:971 tendinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4369 GMDS implicated_via_orthology DOID:0070255 congenital disorder of glycosylation type IIc ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25751 TRAPPC11 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 biomarker_via_orthology DOID:1407 anterior uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4637 GSTM5 implicated_via_orthology DOID:0050451 Brugada syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 implicated_via_orthology DOID:2738 pseudoxanthoma elasticum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22963 MED24 implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30213 ATP13A2 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16915 HAX1 implicated_via_orthology DOID:0050590 severe congenital neutropenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1494 ALX1 implicated_via_orthology DOID:0081047 frontonasal dysplasia 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4313 GLDC implicated_via_orthology DOID:9268 glycine encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32550 ZBTB42 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1940 CHM implicated_via_orthology DOID:9821 choroideremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 implicated_via_orthology DOID:0060484 EAST syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7390 MST1L implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21686 RNASET2 implicated_via_orthology DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4636 GSTM4 implicated_via_orthology DOID:0050451 Brugada syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16922 AGAP1 implicated_via_orthology DOID:1969 cerebral palsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:12510 retinal ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10360 RPL5 implicated_via_orthology DOID:1339 Diamond-Blackfan anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31371 GPR179 implicated_via_orthology DOID:0110869 congenital stationary night blindness 1E ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29634 MEGF10 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7908 NPHS1 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 implicated_via_orthology DOID:3490 Noonan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:701 BMAL1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2211 COL6A1 implicated_via_orthology DOID:0050663 Bethlem myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2896 DLAT implicated_via_orthology DOID:3650 lactic acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12597 USH1C implicated_via_orthology DOID:0050439 Usher syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 biomarker_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:930 B4GALT7 implicated_via_orthology DOID:13359 Ehlers-Danlos syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 implicated_via_orthology DOID:0050451 Brugada syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4604 CXCL3 implicated_via_orthology DOID:0080883 vitamin D-dependent rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14869 APOL5 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP implicated_via_orthology DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9008 PKD1 implicated_via_orthology DOID:0050770 polycystic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10535 SAR1B implicated_via_orthology DOID:0060357 chylomicron retention disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 biomarker_via_orthology DOID:11716 prediabetes syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2964 DYNC1I2 implicated_via_orthology DOID:0070296 primary autosomal recessive microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15607 ARHGEF7 implicated_via_orthology DOID:6713 cerebrovascular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:162 cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 implicated_via_orthology DOID:13359 Ehlers-Danlos syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23801 SIPA1L3 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6923 MBNL1 implicated_via_orthology DOID:450 myotonic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18423 DEPDC5 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15534 TEKT1 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11397 PLK4 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET biomarker_via_orthology DOID:916 liver benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4021 KDSR implicated_via_orthology DOID:1588 thrombocytopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29079 KDM1A biomarker_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6217 KATNB1 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30172 STRADA implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 implicated_via_orthology DOID:2738 pseudoxanthoma elasticum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:871 ATP5IF1 implicated_via_orthology DOID:1432 blindness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21082 SEC63 implicated_via_orthology DOID:0050770 polycystic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15446 PRPF31 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11111 SMC1A implicated_via_orthology DOID:11725 Cornelia de Lange syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3062 DUOX1 implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25358 RNF170 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30858 EFTUD2 implicated_via_orthology DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23459 AGAP4 implicated_via_orthology DOID:1969 cerebral palsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14064 HDAC6 biomarker_via_orthology DOID:0050770 polycystic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR implicated_via_orthology DOID:13399 color blindness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:5041 esophageal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP biomarker_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 implicated_via_orthology DOID:12347 osteogenesis imperfecta ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9008 PKD1 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2025 CLCN7 implicated_via_orthology DOID:13533 osteopetrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1152 BVES implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2160 CNR2 implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2359 CRIM1 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6694 LRP2 implicated_via_orthology DOID:11830 myopia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R implicated_via_orthology DOID:0070343 CSF1R-related brain malformation and osteopetrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14867 APOL4 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 implicated_via_orthology DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12428 TWIST1 biomarker_via_orthology DOID:0050827 rheumatic heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:236 ADCY5 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 biomarker_via_orthology DOID:0080199 colorectal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6501 LAMP2 implicated_via_orthology DOID:0050437 Danon disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29262 IFT80 implicated_via_orthology DOID:0050592 asphyxiating thoracic dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:5940 malignant peripheral nerve sheath tumor ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18862 KCNH6 implicated_via_orthology DOID:2843 long QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5347 ICAM4 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9596 PTGER4 biomarker_via_orthology DOID:12510 retinal ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 implicated_via_orthology DOID:0080887 vitamin D-dependent rickets type 1B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7035 MFAP4 implicated_via_orthology DOID:0060768 Smith-Magenis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:939 BAG3 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3192 EEF1A2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11604 TBX5 biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15559 CHCHD10 implicated_via_orthology DOID:231 motor neuron disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:143 ACTC1 implicated_via_orthology DOID:3191 nemaline myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16882 HCN4 implicated_via_orthology DOID:13884 sick sinus syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2267 COX5A implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33426 GGTLC3 biomarker_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:11716 prediabetes syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11329 SST biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:14221 abdominal obesity-metabolic syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10777 SFRP2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8023 NTF3 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 biomarker_via_orthology DOID:0070355 overactive bladder syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:607 paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14931 SIRT3 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8747 PCSK5 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6066 INHBA biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR biomarker_via_orthology DOID:2526 prostate adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6285 KCNMB1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2645 CYP4F2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24470 ANKRD23 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17432 CHIA biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL biomarker_via_orthology DOID:12466 secondary hyperparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8515 OTOF biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30620 PDGFD biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16 SERPINA3 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 biomarker_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 biomarker_via_orthology DOID:893 Wilson disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4433 GOT2 biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6895 MARCO biomarker_via_orthology DOID:0080176 meningococcal meningitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:4762 vasculogenic impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2714 DCX biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:636 AQP3 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13447 SLC38A1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7393 MT1A biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:5041 esophageal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1700 CD80 biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 biomarker_via_orthology DOID:0050758 metabolic acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9951 REG1A biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:217 ADAMTS1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16400 NLRP3 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23612 SLCO4C1 biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2653 CYP8B1 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8780 PDE4A biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8951 SERPINE2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17451 CYSLTR1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:0060319 cardiac arrest ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 biomarker_via_orthology DOID:3748 esophagus squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:93 ACAT1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4037 FYN biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2457 CSNK2A1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:620 APP biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 biomarker_via_orthology DOID:0060319 cardiac arrest ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9752 QDPR biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 biomarker_via_orthology DOID:3602 toxic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2538 CTSV biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES biomarker_via_orthology DOID:2615 papilloma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25323 LRP5L biomarker_via_orthology DOID:971 tendinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15983 WNT3A biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9065 PLCG1 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 biomarker_via_orthology DOID:2237 hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14881 ZEB2 biomarker_via_orthology DOID:0050827 rheumatic heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16935 ATG7 biomarker_via_orthology DOID:607 paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 biomarker_via_orthology DOID:4483 rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB biomarker_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5259 HSP90AB3P biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8133 OLR1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4223 MSTN biomarker_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:0050852 limb ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3662 FGB biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14202 JPH2 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:13949 interstitial cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG biomarker_via_orthology DOID:11613 hyperandrogenism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7397 MT1E biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11195 SOX2 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10571 SCD biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5209 HSD11B2 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 biomarker_via_orthology DOID:14692 Smith-Lemli-Opitz syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10451 RRM1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP biomarker_via_orthology DOID:11400 pyelonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29602 PDPN biomarker_via_orthology DOID:12215 oligohydramnios ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6026 CXCR1 biomarker_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 biomarker_via_orthology DOID:11650 bronchopulmonary dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1319 C3AR1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:799 ATP1A1 biomarker_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 biomarker_via_orthology DOID:1742 drug psychosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 biomarker_via_orthology DOID:5409 lung small cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29250 WDR35 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9612 PTK2B biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B biomarker_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8861 PF4 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17432 CHIA biomarker_via_orthology DOID:12053 cryptococcosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 biomarker_via_orthology DOID:12700 hyperprolactinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2661 DAB1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33527 INS-IGF2 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2705 DCN biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10963 SLC22A1 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 biomarker_via_orthology DOID:13976 peptic esophagitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH biomarker_via_orthology DOID:14679 VACTERL association ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE biomarker_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32537 HSP90AB2P biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 biomarker_via_orthology DOID:5022 aflatoxins-related hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17101 SUZ12 biomarker_via_orthology DOID:0080016 spina bifida ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 biomarker_via_orthology DOID:7188 autoimmune thyroiditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4114 GAL biomarker_via_orthology DOID:1188 mononeuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:753 ASNS biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7968 NR1I2 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:220 ADAMTS4 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9060 PLCD1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5259 HSP90AB3P biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17067 FAIM2 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12540 UGT1A8 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 biomarker_via_orthology DOID:127 leiomyoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 biomarker_via_orthology DOID:10787 premature menopause ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3392 EPHB1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 biomarker_via_orthology DOID:12337 varicocele ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:108 ACHE biomarker_via_orthology DOID:6088 acute stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10436 RPS6KB1 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4606 PDIA3 biomarker_via_orthology DOID:9778 irritable bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:84 ACACA biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3573 FADD biomarker_via_orthology DOID:14221 abdominal obesity-metabolic syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1775 CDK5R1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15781 CHRFAM7A biomarker_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3798 FOSL2 biomarker_via_orthology DOID:4451 renal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A biomarker_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4223 MSTN biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:10320 asbestosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:12574 posterior uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:0050866 oral squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2766 DEFB1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4845 HCN1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9630 PTN biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10061 RNF2 biomarker_via_orthology DOID:0080016 spina bifida ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 biomarker_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:51483 LINC02210-CRHR1 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:784 ATF2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 biomarker_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7434 MTHFD2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11007 SLC2A3 biomarker_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:363 AK4 biomarker_via_orthology DOID:12556 acute kidney tubular necrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11509 SYT1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3538 F2RL1 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2482 CSTB biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31635 MIR34A biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7406 MT2A biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 biomarker_via_orthology DOID:0050336 hypophosphatemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 biomarker_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3797 FOSB biomarker_via_orthology DOID:809 cocaine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2695 DBN1 biomarker_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:4914 esophagus adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15888 RTEL1 biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 biomarker_via_orthology DOID:9976 heroin dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16711 TLR6 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 biomarker_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6255 KCNJ1 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4462 GPNMB biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16859 NOS1AP biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1589 CCNE1 biomarker_via_orthology DOID:4001 ovarian carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6066 INHBA biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4855 HDC biomarker_via_orthology DOID:4483 rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12657 VAV1 biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6131 IRF9 biomarker_via_orthology DOID:2913 acute pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9998 RGS2 biomarker_via_orthology DOID:365 bladder disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 biomarker_via_orthology DOID:8456 choline deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4173 GATA4 biomarker_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE biomarker_via_orthology DOID:2562 suppurative periapical periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4604 CXCL3 biomarker_via_orthology DOID:5041 esophageal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 biomarker_via_orthology DOID:12577 urethral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:5517 stomach carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 biomarker_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6535 LDHA biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4433 GOT2 biomarker_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6918 MBD3 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7174 MMP7 biomarker_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7452 MTMR4 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9035 PLA2G4A biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:14004 thoracic aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6066 INHBA biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 biomarker_via_orthology DOID:971 tendinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5218 HSD3B2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 biomarker_via_orthology DOID:9455 lipid storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 biomarker_via_orthology DOID:3669 intermittent claudication ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6206 JUND biomarker_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:3393 coronary artery disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1406 CACNG2 biomarker_via_orthology DOID:1825 childhood absence epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5474 IGFBP5 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19687 EIF2AK4 biomarker_via_orthology DOID:5453 pulmonary venoocclusive disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4552 GPT biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4288 GJB6 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:236 ADCY5 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7668 NCOA1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:51483 LINC02210-CRHR1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11768 TGFB2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4852 HDAC1 biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27097 RBFOX3 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1508 CASP7 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11359 STAR biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11071 SLC9A1 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9844 RAMP2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 biomarker_via_orthology DOID:10690 mastitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:526 human immunodeficiency virus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A biomarker_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4829 HBD biomarker_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG biomarker_via_orthology DOID:3393 coronary artery disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 biomarker_via_orthology DOID:365 bladder disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:55 ABCC4 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13388 BEX3 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4251 GGT2P biomarker_via_orthology DOID:5022 aflatoxins-related hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6710 LTA4H biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:9965 toxoplasmosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11526 TACR1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4606 PDIA3 biomarker_via_orthology DOID:11088 asphyxia neonatorum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4324 GLP1R biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11042 SLC6A1 biomarker_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2843 DGAT1 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 biomarker_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18305 ATP6AP2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23 ABAT biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4317 GLI1 biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:11044 gastroschisis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2441 CSH2 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:60 ABCC9 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14934 SIRT6 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8596 PAM biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1476 CAPN1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18129 GHRL biomarker_via_orthology DOID:3125 multiple endocrine neoplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16935 ATG7 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:5041 esophageal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6932 MC4R biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30554 CCL3L3 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7672 NCOR1 biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:3407 carotid artery disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9847 RANBP1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 biomarker_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:10113 trypanosomiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A biomarker_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8862 PF4V1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10908 SLC11A2 biomarker_via_orthology DOID:1724 duodenal ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:833 ATP5F1C biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10485 RYR3 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR biomarker_via_orthology DOID:11132 prostatic hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12531 UGT1A10 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU biomarker_via_orthology DOID:11132 prostatic hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 biomarker_via_orthology DOID:3891 placental insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3346 ENDOG biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8775 PDE1B biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7761 NEURL1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10477 RXRA biomarker_via_orthology DOID:12935 alcoholic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3353 ENO2 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7941 NPPC biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2662 DAB2 biomarker_via_orthology DOID:0050758 metabolic acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA biomarker_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7701 NDUFB6 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:11204 allergic conjunctivitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18596 GGTLC2 biomarker_via_orthology DOID:5022 aflatoxins-related hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6596 LIF biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7404 MT1L biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:9119 acute myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:12510 retinal ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31566 MIR195 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10938 SLC19A2 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:51483 LINC02210-CRHR1 biomarker_via_orthology DOID:12918 thromboangiitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7710 NDUFS3 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 biomarker_via_orthology DOID:3388 periodontal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7394 MT1B biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1774 CDK5 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:0080784 urinary tract infection ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:5463 cochlear disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16636 KIF1B biomarker_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2648 CYP4F8 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 biomarker_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 biomarker_via_orthology DOID:2560 morphine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1390 CACNA1C biomarker_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9315 PPP3CB biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL biomarker_via_orthology DOID:1588 thrombocytopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:317 AFP biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:352 AIF1 biomarker_via_orthology DOID:1969 cerebral palsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6838 MAP1LC3A biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:433 ALOX15 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5237 HSPA4 biomarker_via_orthology DOID:916 liver benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3712 FKBP1B biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:2797 idiopathic interstitial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32538 HSP90AB4P biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4267 GHSR biomarker_via_orthology DOID:0060870 isolated growth hormone deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6501 LAMP2 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2394 CRYBA1 biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2605 CYP27A1 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:12337 varicocele ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 biomarker_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9868 RARRES2 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:539 ANXA2P2 biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11047 SLC6A14 biomarker_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3084 DVL1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6948 MCM5 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15476 DYNLL1 biomarker_via_orthology DOID:0060319 cardiac arrest ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 biomarker_via_orthology DOID:4556 lung large cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8601 REG3A biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8044 NUCB2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11908 TNFRSF11A biomarker_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6857 MAP3K5 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3638 FDX1 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:4483 rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:633 AQP1 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4223 MSTN biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1242 C1QB biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 biomarker_via_orthology DOID:1793 pancreatic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:11650 bronchopulmonary dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21744 CPEB1 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30666 VHLL biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2357 CRHR1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:13976 peptic esophagitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10436 RPS6KB1 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2592 CYP11B2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17888 CRCP biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:9281 phenylketonuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8780 PDE4A biomarker_via_orthology DOID:11077 brucellosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7400 MT1H biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:417 ALDOB biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8016 NSF biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH biomarker_via_orthology DOID:13603 obstructive jaundice ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11724 TEK biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10894 PRMT5 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:563 AP2B1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9956 RELB biomarker_via_orthology DOID:11716 prediabetes syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8000 NRGN biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 biomarker_via_orthology DOID:11088 asphyxia neonatorum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18122 SOX17 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32537 HSP90AB2P biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 biomarker_via_orthology DOID:5041 esophageal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6278 KCNK3 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14859 UCK1 biomarker_via_orthology DOID:573 nerve compression syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5238 HSPA5 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12784 WNT5A biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13265 CYP4F11 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B biomarker_via_orthology DOID:823 periapical periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5351 ICOS biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6773 SMAD7 biomarker_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 biomarker_via_orthology DOID:1727 retinal vein occlusion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9595 PTGER3 biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14343 C1QTNF6 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18129 GHRL biomarker_via_orthology DOID:0050848 obstructive sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23151 FERMT3 biomarker_via_orthology DOID:2394 ovarian cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11771 TGFBI biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 biomarker_via_orthology DOID:11801 protein-energy malnutrition ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 biomarker_via_orthology DOID:3459 breast carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU biomarker_via_orthology DOID:0060903 thrombosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:54 ABCC3 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1084 BNIP3 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10628 CCL3L1 biomarker_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6925 MBP biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR biomarker_via_orthology DOID:1273 respiratory syncytial virus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8861 PF4 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 biomarker_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11042 SLC6A1 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19004 CASP12 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:54 ABCC3 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16789 NMNAT2 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7427 MT-CYB biomarker_via_orthology DOID:7997 thyrotoxicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1338 C5AR1 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18451 MCFD2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11765 TGFA biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1476 CAPN1 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8591 PAK2 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B biomarker_via_orthology DOID:9993 hypoglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:352 AIF1 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9021 PKM biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11092 SLPI biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31629 MIR30E biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4097 GADD45G biomarker_via_orthology DOID:4783 mesangial proliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1460 CAMK2A biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10956 SLCO1A2 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1963 CHRNB3 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16505 CYGB biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC biomarker_via_orthology DOID:5394 prolactinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7406 MT2A biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 biomarker_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6024 IL7R biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1609 CCR8 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:127 leiomyoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB biomarker_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:830 ATP5F1B biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH biomarker_via_orthology DOID:535 sleep disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 biomarker_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 biomarker_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 biomarker_via_orthology DOID:2870 endometrial adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18596 GGTLC2 biomarker_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 biomarker_via_orthology DOID:0080652 calcium oxalate nephrolithiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10609 CCL1 biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M biomarker_via_orthology DOID:8283 peritonitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4335 GLUD1 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4594 GRM2 biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:12716 newborn respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA biomarker_via_orthology DOID:14484 sporotrichosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8910 PGR biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10616 CCL18 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:418 ALDOC biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17328 DTNBP1 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4335 GLUD1 biomarker_via_orthology DOID:885 fascioliasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:598 APLP2 biomarker_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:0080178 mucositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2590 CYP11A1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 biomarker_via_orthology DOID:0081267 graft-versus-host disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3346 ENDOG biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6701 LRPAP1 biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5294 HTR2B biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 biomarker_via_orthology DOID:1470 major depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:0060189 ileitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2885 DIO3 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4288 GJB6 biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9592 PTGDS biomarker_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5157 HPRT1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:633 AQP1 biomarker_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5008 HMGCS2 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1491 CAPZB biomarker_via_orthology DOID:1307 dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2356 CRHBP biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8861 PF4 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:0080199 colorectal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11642 ZEB1 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 biomarker_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7398 MT1F biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10571 SCD biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18140 RHCG biomarker_via_orthology DOID:0050758 metabolic acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2422 CS biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:453 AMBP biomarker_via_orthology DOID:0080652 calcium oxalate nephrolithiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:1924 hypogonadism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21689 FIS1 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5273 HSPG2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32538 HSP90AB4P biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG biomarker_via_orthology DOID:7188 autoimmune thyroiditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8862 PF4V1 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 biomarker_via_orthology DOID:3393 coronary artery disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:817 ATP2B4 biomarker_via_orthology DOID:543 dystonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 biomarker_via_orthology DOID:127 leiomyoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:362 AK2 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:319 ACAN biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4606 PDIA3 biomarker_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH biomarker_via_orthology DOID:8283 peritonitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10935 SLC18A2 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:933 BACE1 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8863 PFAS biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10935 SLC18A2 biomarker_via_orthology DOID:1440 Machado-Joseph disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1476 CAPN1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30423 CACYBP biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:11247 disseminated intravascular coagulation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9082 PLOD2 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14881 ZEB2 biomarker_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6934 MCAM biomarker_via_orthology DOID:1790 malignant mesothelioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:9446 cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR biomarker_via_orthology DOID:5425 ovarian hyperstimulation syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7142 MARCKSL1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7574 MYH4 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG biomarker_via_orthology DOID:13767 clonorchiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19004 CASP12 biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20947 TOMM20 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 biomarker_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:395 ALAD biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16859 NOS1AP biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 biomarker_via_orthology DOID:14018 alcoholic liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9864 RARA biomarker_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 biomarker_via_orthology DOID:12716 newborn respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC biomarker_via_orthology DOID:11713 diabetic angiopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7397 MT1E biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25641 RNLS biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31544 MIR15B biomarker_via_orthology DOID:2491 sensory peripheral neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7734 NEFM biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 biomarker_via_orthology DOID:1742 drug psychosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2537 CTSL biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B biomarker_via_orthology DOID:8778 Crohn's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15532 JAM3 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14068 HDAC5 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11801 THY1 biomarker_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:550 AOC3 biomarker_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13816 ATP12A biomarker_via_orthology DOID:4500 hypokalemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET biomarker_via_orthology DOID:1793 pancreatic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:12932 endomyocardial fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2466 CSPG4 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6285 KCNMB1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9437 EIF2AK2 biomarker_via_orthology DOID:5453 pulmonary venoocclusive disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16432 AZIN1 biomarker_via_orthology DOID:11339 pneumocystosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1937 CHKA biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:526 human immunodeficiency virus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10908 SLC11A2 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3012 DPYD biomarker_via_orthology DOID:409 liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN biomarker_via_orthology DOID:13948 bladder neck obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10966 SLC22A2 biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:54 ABCC3 biomarker_via_orthology DOID:12308 Dubin-Johnson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1508 CASP7 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4283 GJB1 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:664 ARG2 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11280 SQSTM1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7458 MT-ND3 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11241 SPI1 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4267 GHSR biomarker_via_orthology DOID:3125 multiple endocrine neoplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2615 CYP2B6 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5208 HSD11B1 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2705 DCN biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4114 GAL biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10589 SCN2B biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:9588 encephalitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A biomarker_via_orthology DOID:14550 root resorption ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4696 GUSB biomarker_via_orthology DOID:8283 peritonitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10311 RPL18A biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 biomarker_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31874 MIR381 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6140 ITGA4 biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:1002 endometritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3680 FGF23 biomarker_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1958 CHRNA4 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11359 STAR biomarker_via_orthology DOID:1924 hypogonadism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6772 SMAD6 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18857 CYP4F12 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 biomarker_via_orthology DOID:2671 transitional cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5217 HSD3B1 biomarker_via_orthology DOID:1924 hypogonadism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10658 SDC1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1480 CAPN3 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18414 UCN2 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7393 MT1A biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24040 ADIPOR1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:520 aortic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10956 SLCO1A2 biomarker_via_orthology DOID:12308 Dubin-Johnson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6899 MAS1 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:644 AR biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2642 CYP4A11 biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8831 PENK biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 biomarker_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7394 MT1B biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7398 MT1F biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4330 GLRX biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16704 SLC17A7 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:9427 hypertensive encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9475 PRSS1 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6277 KCNK2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1974 CHUK biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN biomarker_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11827 TJP1 biomarker_via_orthology DOID:13976 peptic esophagitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:253 ADH5 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3686 FGF8 biomarker_via_orthology DOID:10892 hypospadias ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 biomarker_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:0050848 obstructive sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:7997 thyrotoxicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3085 DVL1P1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16466 SUFU biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8614 PAWR biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2323 CPS1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6838 MAP1LC3A biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15917 PLCB1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A biomarker_via_orthology DOID:10966 lipoid nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7908 NPHS1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 biomarker_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:433 ALOX15 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20575 CYP4A22 biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4140 GAP43 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:644 AR biomarker_via_orthology DOID:4674 androgen insensitivity syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23177 KEAP1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2440 CSH1 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10429 RPS6 biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 biomarker_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5208 HSD11B1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9399 PRKCD biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3573 FADD biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:51483 LINC02210-CRHR1 biomarker_via_orthology DOID:3877 functional colonic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12849 YWHAB biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1977 CIDEB biomarker_via_orthology DOID:10787 premature menopause ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2357 CRHR1 biomarker_via_orthology DOID:12918 thromboangiitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7404 MT1L biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29595 REG3G biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4236 GFER biomarker_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18437 HAVCR2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT biomarker_via_orthology DOID:1909 melanoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:2388 renal artery disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 biomarker_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12855 YWHAZ biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3569 ACSL1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16400 NLRP3 biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9951 REG1A biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:4692 endophthalmitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3014 DPYSL2 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19004 CASP12 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3059 HBEGF biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8605 PARG biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12591 UROD biomarker_via_orthology DOID:13268 porphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2046 CLDN4 biomarker_via_orthology DOID:13976 peptic esophagitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11240 SPHK1 biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7661 NCF2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4616 GSK3A biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN biomarker_via_orthology DOID:11206 opioid abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5224 HSF1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR biomarker_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8614 PAWR biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS biomarker_via_orthology DOID:0050731 vitamin B12 deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31552 MIR181C biomarker_via_orthology DOID:1883 hepatitis C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10799 SFTPA2 biomarker_via_orthology DOID:12716 newborn respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:188 ADAM10 biomarker_via_orthology DOID:14004 thoracic aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11284 SRD5A1 biomarker_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:9402 epididymitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 biomarker_via_orthology DOID:3068 glioblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:2799 bronchiolitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33426 GGTLC3 biomarker_via_orthology DOID:5022 aflatoxins-related hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:12337 varicocele ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6116 IRF1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5253 HSP90AA1 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10805 SGCA biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1319 C3AR1 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11512 SYT4 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5258 HSP90AB1 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3241 EGR4 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2357 CRHR1 biomarker_via_orthology DOID:3877 functional colonic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4252 GGT3P biomarker_via_orthology DOID:5022 aflatoxins-related hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31530 MIR143 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:612 APOD biomarker_via_orthology DOID:4762 vasculogenic impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2460 CSNK2B biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:5295 intestinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE biomarker_via_orthology DOID:10113 trypanosomiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20151 SLC17A8 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30634 SCAP biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6210 CD82 biomarker_via_orthology DOID:2394 ovarian cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11009 SLC2A4 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4552 GPT biomarker_via_orthology DOID:13603 obstructive jaundice ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24075 AMIGO3 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9952 REG1B biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 biomarker_via_orthology DOID:4483 rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1232 EGLN1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET biomarker_via_orthology DOID:0050771 pheochromocytoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9595 PTGER3 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:77 gastrointestinal system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11359 STAR biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7981 NR4A2 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:813 ATP2A3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2651 CYP7A1 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5360 ID1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 biomarker_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 biomarker_via_orthology DOID:4483 rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8862 PF4V1 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7060 MGP biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11068 SLC8A1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8778 PDE3A biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23059 BCAN biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:0070355 overactive bladder syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9445 PRL biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8743 PCSK1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9412 PRKCZ biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1507 CASP6 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF biomarker_via_orthology DOID:9470 bacterial meningitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12541 UGT1A9 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2458 CSNK2A3 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9844 RAMP2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:9402 epididymitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9414 PRKG1 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2357 CRHR1 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 biomarker_via_orthology DOID:2518 orchitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27097 RBFOX3 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2620 CYP2C18 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6371 KLKB1 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14025 SLC5A7 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:576 APAF1 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1396 CACNA1I biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9381 PRKACB biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7174 MMP7 biomarker_via_orthology DOID:4247 coronary restenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24040 ADIPOR1 biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:648 ARC biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31593 MIR216A biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1130 BTG1 biomarker_via_orthology DOID:11801 protein-energy malnutrition ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 biomarker_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2509 CTNNA1 biomarker_via_orthology DOID:5041 esophageal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN biomarker_via_orthology DOID:2560 morphine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6934 MCAM biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA biomarker_via_orthology DOID:0050848 obstructive sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29602 PDPN biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1833 CEBPA biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9205 PON2 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA biomarker_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 biomarker_via_orthology DOID:3908 lung non-small cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12516 UCN biomarker_via_orthology DOID:12918 thromboangiitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4571 GRIA1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19004 CASP12 biomarker_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM biomarker_via_orthology DOID:12140 Chagas disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19254 PLAC8 biomarker_via_orthology DOID:10603 glucose intolerance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6876 MAPK14 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12724 VTN biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:12510 retinal ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11333 SSTR4 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9414 PRKG1 biomarker_via_orthology DOID:4481 allergic rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A biomarker_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 biomarker_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 biomarker_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 biomarker_via_orthology DOID:11339 pneumocystosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10856 SI biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4336 GLUD2 biomarker_via_orthology DOID:885 fascioliasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9630 PTN biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2528 CTSC biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11583 SERPINA7 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 biomarker_via_orthology DOID:0060475 myoclonic-atonic epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU biomarker_via_orthology DOID:2526 prostate adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28405 KMT5C biomarker_via_orthology DOID:916 liver benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5233 HSPA1B biomarker_via_orthology DOID:0081267 graft-versus-host disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN biomarker_via_orthology DOID:0050696 fetal alcohol spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9016 PKHD1 biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10936 SLC18A3 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19824 SYF2 biomarker_via_orthology DOID:9588 encephalitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11178 SOAT2 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:13812 adhesions of uterus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 biomarker_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:429 ALOX12 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2441 CSH2 biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI biomarker_via_orthology DOID:10159 osteonecrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14375 PPP1R15A biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12855 YWHAZ biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4847 HCRT biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14290 NLGN2 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6950 MCM7 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1774 CDK5 biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14077 NGB biomarker_via_orthology DOID:9588 encephalitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4172 GATA3 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1764 CDH5 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2201 COL3A1 biomarker_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10594 SCN7A biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11460 SUOX biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17938 CALY biomarker_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9592 PTGDS biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10831 SH3GL2 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16437 GGTLC1 biomarker_via_orthology DOID:5022 aflatoxins-related hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS biomarker_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19004 CASP12 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:11650 bronchopulmonary dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11070 SLC8A3 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3694 FGG biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8023 NTF3 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:54 ABCC3 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11926 TNFSF11 biomarker_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9683 PTPRU biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21689 FIS1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:130 ACTA2 biomarker_via_orthology DOID:0050827 rheumatic heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3393 EPHB2 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7393 MT1A biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16952 TXNIP biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1424 CAD biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6834 MAOB biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 biomarker_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4583 GRIK5 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 biomarker_via_orthology DOID:11132 prostatic hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4849 HCRTR2 biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10905 SLC10A1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH biomarker_via_orthology DOID:9281 phenylketonuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:937 BAG1 biomarker_via_orthology DOID:12528 lesion of sciatic nerve ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 biomarker_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14931 SIRT3 biomarker_via_orthology DOID:11716 prediabetes syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:217 ADAMTS1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2328 CPT1A biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7400 MT1H biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23177 KEAP1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9475 PRSS1 biomarker_via_orthology DOID:1485 cystic fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7612 MYOG biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6116 IRF1 biomarker_via_orthology DOID:1273 respiratory syncytial virus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5238 HSPA5 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD biomarker_via_orthology DOID:0080599 Coronavirus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7863 NNT biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4070 GABBR1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:3068 glioblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3321 ELK1 biomarker_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC biomarker_via_orthology DOID:5517 stomach carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9399 PRKCD biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:241 ADCYAP1 biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:1727 retinal vein occlusion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11284 SRD5A1 biomarker_via_orthology DOID:12700 hyperprolactinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2442 CSHL1 biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12338 TRPC6 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7139 FOXO4 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11741 TFAM biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4378 GMPS biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 biomarker_via_orthology DOID:2671 transitional cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2195 COL18A1 biomarker_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 biomarker_via_orthology DOID:12897 submandibular gland disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7775 NFATC1 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5294 HTR2B biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 biomarker_via_orthology DOID:11382 corneal neovascularization ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24040 ADIPOR1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4846 HCN2 biomarker_via_orthology DOID:9471 meningitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1069 BMP2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 biomarker_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:291 ADSL biomarker_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4252 GGT3P biomarker_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 biomarker_via_orthology DOID:2741 bilirubin metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:170 ACTR3 biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:633 AQP1 biomarker_via_orthology DOID:1727 retinal vein occlusion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:783 ATF1 biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7962 NR1D1 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2358 CRHR2 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10911 SLC12A2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 biomarker_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:0050152 aspiration pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A biomarker_via_orthology DOID:916 liver benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:2237 hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1477 CAPN10 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB biomarker_via_orthology DOID:11801 protein-energy malnutrition ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4845 HCN1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7965 NR1H2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR biomarker_via_orthology DOID:916 liver benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7756 NES biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 biomarker_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9630 PTN biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:784 ATF2 biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2358 CRHR2 biomarker_via_orthology DOID:9778 irritable bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4336 GLUD2 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9075 SERPINF2 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 biomarker_via_orthology DOID:9588 encephalitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:916 liver benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4262 GH2 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:537 ANXA2 biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:664 ARG2 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11034 SLC4A8 biomarker_via_orthology DOID:11716 prediabetes syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:633 AQP1 biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2440 CSH1 biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2649 CYP51A1 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7463 MTNR1A biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10628 CCL3L1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10935 SLC18A2 biomarker_via_orthology DOID:303 substance-related disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12836 XRN2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2509 CTNNA1 biomarker_via_orthology DOID:3905 lung carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:0060319 cardiac arrest ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4335 GLUD1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11075 NHERF1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11827 TJP1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30666 VHLL biomarker_via_orthology DOID:2154 nephroblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3573 FADD biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:13948 bladder neck obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8799 PDGFA biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2651 CYP7A1 biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11827 TJP1 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM biomarker_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:352 AIF1 biomarker_via_orthology DOID:231 motor neuron disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21689 FIS1 biomarker_via_orthology DOID:4483 rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12539 UGT1A7 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13388 BEX3 biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33351 MIR675 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3315 ELAVL4 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6719 LTC4S biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2464 VCAN biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR biomarker_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3797 FOSB biomarker_via_orthology DOID:11206 opioid abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7941 NPPC biomarker_via_orthology DOID:1712 aortic valve stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:396 ALAS1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 biomarker_via_orthology DOID:14018 alcoholic liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:12577 urethral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2528 CTSC biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19004 CASP12 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 biomarker_via_orthology DOID:11132 prostatic hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7408 MT3 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5033 HNRNPA2B1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4175 GATM biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6859 MAP3K7 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12856 YY1 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2442 CSHL1 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3402 EPHX2 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9868 RARRES2 biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3363 ENTPD1 biomarker_via_orthology DOID:3213 demyelinating disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4552 GPT biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11583 SERPINA7 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7891 NOX4 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 biomarker_via_orthology DOID:11088 asphyxia neonatorum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11092 SLPI biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR biomarker_via_orthology DOID:10605 short bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6714 LTBP1 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R biomarker_via_orthology DOID:2518 orchitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4262 GH2 biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9283 PPP1CC biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 biomarker_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6857 MAP3K5 biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4604 CXCL3 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2195 COL18A1 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30497 KIF7 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5238 HSPA5 biomarker_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:290 GRK3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9582 PTAFR biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:585 nephrolithiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB biomarker_via_orthology DOID:900 hepatopulmonary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12744 MLXIPL biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:8717 decubitus ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11724 TEK biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 biomarker_via_orthology DOID:11206 opioid abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14685 F11R biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5186 PRMT2 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8978 PIK3CG biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10616 CCL18 biomarker_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8095 OAZ1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG biomarker_via_orthology DOID:12030 panuveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG biomarker_via_orthology DOID:409 liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11517 TAC1 biomarker_via_orthology DOID:1273 respiratory syncytial virus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:0050152 aspiration pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES biomarker_via_orthology DOID:13976 peptic esophagitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7756 NES biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6767 SMAD1 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 biomarker_via_orthology DOID:4306 radiculopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2593 CYP17A1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16437 GGTLC1 biomarker_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2499 CTF1 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:54 ABCC3 biomarker_via_orthology DOID:2741 bilirubin metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC biomarker_via_orthology DOID:4481 allergic rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA biomarker_via_orthology DOID:0050665 fetal alcohol syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 biomarker_via_orthology DOID:13976 peptic esophagitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN biomarker_via_orthology DOID:76 stomach disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9065 PLCG1 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:12010 anterior ischemic optic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19004 CASP12 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17700 CCL28 biomarker_via_orthology DOID:614 lymphopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9380 PRKACA biomarker_via_orthology DOID:670 amphetamine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9313 PPP2R5E biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:5453 pulmonary venoocclusive disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11925 TNFSF10 biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:143 ACTC1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7734 NEFM biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30554 CCL3L3 biomarker_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL biomarker_via_orthology DOID:2154 nephroblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:12337 varicocele ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7392 MSX2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:319 ACAN biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:815 ATP2B2 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13784 MIR429 biomarker_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4433 GOT2 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B biomarker_via_orthology DOID:3891 placental insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3297 EIF4G2 biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10388 RPS15 biomarker_via_orthology DOID:3892 insulinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:12556 acute kidney tubular necrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10571 SCD biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12339 TRPM2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16391 CARD9 biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4235 GFAP biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7756 NES biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6838 MAP1LC3A biomarker_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:5517 stomach carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B biomarker_via_orthology DOID:0050847 sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5218 HSD3B2 biomarker_via_orthology DOID:12700 hyperprolactinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9414 PRKG1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:281 ADRA2A biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6501 LAMP2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 biomarker_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:84 ACACA biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 biomarker_via_orthology DOID:9286 priapism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4004 FUBP1 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 biomarker_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9414 PRKG1 biomarker_via_orthology DOID:1924 hypogonadism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29602 PDPN biomarker_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7315 MS4A1 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 biomarker_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4251 GGT2P biomarker_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:3602 toxic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16935 ATG7 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18140 RHCG biomarker_via_orthology DOID:4500 hypokalemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4336 GLUD2 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3797 FOSB biomarker_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9952 REG1B biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:11396 pulmonary edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2570 CYB5A biomarker_via_orthology DOID:11400 pyelonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:492 ANK1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5258 HSP90AB1 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6925 MBP biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11086 SLIT2 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8742 PCP4 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9399 PRKCD biomarker_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6281 KCNK6 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:921 B3GAT1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18301 SLC2A14 biomarker_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4070 GABBR1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11528 TACR3 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN biomarker_via_orthology DOID:0050696 fetal alcohol spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11026 SLC3A2 biomarker_via_orthology DOID:2671 transitional cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10616 CCL18 biomarker_via_orthology DOID:12140 Chagas disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 biomarker_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18301 SLC2A14 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7516 MUC5B biomarker_via_orthology DOID:9261 nasopharynx carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5320 HYAL1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7956 NPY1R biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:42 ABCB11 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9035 PLA2G4A biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7404 MT1L biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:3891 placental insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6066 INHBA biomarker_via_orthology DOID:0050827 rheumatic heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7400 MT1H biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF biomarker_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7394 MT1B biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9344 PRCP biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10886 SIRT2 biomarker_via_orthology DOID:3669 intermittent claudication ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 biomarker_via_orthology DOID:2518 orchitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2973 DNM1L biomarker_via_orthology DOID:13711 dental fluorosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 biomarker_via_orthology DOID:11339 pneumocystosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11042 SLC6A1 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23393 CARM1 biomarker_via_orthology DOID:0050868 hepatocellular adenoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 biomarker_via_orthology DOID:2741 bilirubin metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20820 TPCN2 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6838 MAP1LC3A biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:4306 radiculopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2638 CYP3A5 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11069 SLC8A2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR biomarker_via_orthology DOID:8432 polycythemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4845 HCN1 biomarker_via_orthology DOID:1825 childhood absence epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6724 LUM biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5951 CADM1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7734 NEFM biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B biomarker_via_orthology DOID:14654 prostatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9630 PTN biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16952 TXNIP biomarker_via_orthology DOID:10534 stomach cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9999 RGS3 biomarker_via_orthology DOID:12528 lesion of sciatic nerve ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 biomarker_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13539 AGTRAP biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10330 RPL28 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD biomarker_via_orthology DOID:9281 phenylketonuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8831 PENK biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9080 PLN biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26285 PLEKHS1 biomarker_via_orthology DOID:10603 glucose intolerance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6206 JUND biomarker_via_orthology DOID:4451 renal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR biomarker_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7889 NOX1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13708 GPR182 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5971 IL12RB1 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13315 HDAC8 biomarker_via_orthology DOID:670 amphetamine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10681 SDHB biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:1724 duodenal ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14661 EGLN3 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8831 PENK biomarker_via_orthology DOID:543 dystonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 biomarker_via_orthology DOID:11716 prediabetes syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4824 HBA2 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11905 TNFRSF10B biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11255 SPP1 biomarker_via_orthology DOID:182 calcinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:830 ATP5F1B biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 biomarker_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B biomarker_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15631 TLR7 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16007 TRIM63 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10995 SLC27A1 biomarker_via_orthology DOID:10603 glucose intolerance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:54 ABCC3 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4432 GOT1 biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3694 FGG biomarker_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 biomarker_via_orthology DOID:1063 interstitial nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2388 CRYAA biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2538 CTSV biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2396 CRYBA4 biomarker_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 biomarker_via_orthology DOID:14654 prostatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:727 ARTN biomarker_via_orthology DOID:574 peripheral nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG biomarker_via_orthology DOID:0081267 graft-versus-host disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3796 FOS biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6143 ITGA7 biomarker_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7394 MT1B biomarker_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3614 FCGR1BP biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6442 KRT5 biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 biomarker_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6277 KCNK2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7842 NMB biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11724 TEK biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6917 MBD2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10995 SLC27A1 biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14866 HHIP biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 biomarker_via_orthology DOID:0080199 colorectal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4823 HBA1 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 biomarker_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1508 CASP7 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5184 HRH3 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19266 SYT10 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6561 LGALS1 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11246 SPINT1 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3446 ERG biomarker_via_orthology DOID:5453 pulmonary venoocclusive disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6917 MBD2 biomarker_via_orthology DOID:8456 choline deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6950 MCM7 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10961 SLCO1B3 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31629 MIR30E biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES biomarker_via_orthology DOID:2671 transitional cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23399 FREM1 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7954 NPTXR biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B biomarker_via_orthology DOID:0050850 diabetic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:52028 MTCO2P12 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:995 BCL2L2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6563 LGALS3 biomarker_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4270 GIP biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6561 LGALS1 biomarker_via_orthology DOID:10966 lipoid nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:11339 pneumocystosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4236 GFER biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:4481 allergic rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5951 CADM1 biomarker_via_orthology DOID:3910 lung adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 biomarker_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 biomarker_via_orthology DOID:8719 in situ carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 biomarker_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9459 PROX1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6838 MAP1LC3A biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23177 KEAP1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6972 MDK biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:2986 IgA glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9395 PRKCB biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2980 DNMT3L biomarker_via_orthology DOID:8456 choline deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11128 SNAI1 biomarker_via_orthology DOID:0050827 rheumatic heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7968 NR1I2 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:221 ADAMTS5 biomarker_via_orthology DOID:12800 mucopolysaccharidosis VI ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG biomarker_via_orthology DOID:13133 HELLP syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 biomarker_via_orthology DOID:8634 prostate carcinoma in situ ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA biomarker_via_orthology DOID:11247 disseminated intravascular coagulation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:188 ADAM10 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3353 ENO2 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:42959 BCL2L2-PABPN1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 biomarker_via_orthology DOID:971 tendinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8778 PDE3A biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3613 FCGR1A biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 biomarker_via_orthology DOID:2671 transitional cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1578 CCNA2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11823 TIMP4 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9998 RGS2 biomarker_via_orthology DOID:11206 opioid abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19391 SOCS3 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 biomarker_via_orthology DOID:0050865 tongue squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10959 SLCO1B1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11527 TACR2 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8768 AIFM1 biomarker_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9445 PRL biomarker_via_orthology DOID:12700 hyperprolactinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:494 ANK3 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1499 CASP1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2160 CNR2 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15825 HIF3A biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6561 LGALS1 biomarker_via_orthology DOID:707 B-cell lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG biomarker_via_orthology DOID:11121 pulpitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4799 HADH biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24323 CARTPT biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT biomarker_via_orthology DOID:11049 meconium aspiration syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1476 CAPN1 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4267 GHSR biomarker_via_orthology DOID:0050848 obstructive sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7400 MT1H biomarker_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24859 YEATS4 biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9056 PLCB3 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:188 ADAM10 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12513 UCHL1 biomarker_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19696 GRPEL1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M biomarker_via_orthology DOID:10159 osteonecrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 biomarker_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B biomarker_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:648 ARC biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:4481 allergic rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 biomarker_via_orthology DOID:11121 pulpitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12698 VLDLR biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9035 PLA2G4A biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:51483 LINC02210-CRHR1 biomarker_via_orthology DOID:9778 irritable bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11823 TIMP4 biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3072 DUSP6 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3559 FABP4 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2185 COL10A1 biomarker_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6115 IREB2 biomarker_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11086 SLIT2 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:0080001 bone disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3315 ELAVL4 biomarker_via_orthology DOID:8927 learning disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17312 TIMM23 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC biomarker_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7393 MT1A biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6139 ITGA3 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:417 ALDOB biomarker_via_orthology DOID:916 liver benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8918 PHEX biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1424 CAD biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:55 ABCC4 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7408 MT3 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 biomarker_via_orthology DOID:11247 disseminated intravascular coagulation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 biomarker_via_orthology DOID:11132 prostatic hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR biomarker_via_orthology DOID:1307 dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20575 CYP4A22 biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9240 PPBP biomarker_via_orthology DOID:10892 hypospadias ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1602 CCR1 biomarker_via_orthology DOID:1407 anterior uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 biomarker_via_orthology DOID:3213 demyelinating disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN biomarker_via_orthology DOID:13948 bladder neck obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10616 CCL18 biomarker_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR biomarker_via_orthology DOID:10787 premature menopause ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 biomarker_via_orthology DOID:9206 Barrett's esophagus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19764 HES5 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 biomarker_via_orthology DOID:4483 rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17194 NDUFA13 biomarker_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1338 C5AR1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11772 TGFBR1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6899 MAS1 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2352 CREM biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7703 NDUFB8 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9666 PTPRC biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:537 ANXA2 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2590 CYP11A1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11804 TIAL1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31577 MIR20A biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16703 SLC17A6 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11925 TNFSF10 biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8768 AIFM1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9999 RGS3 biomarker_via_orthology DOID:365 bladder disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1513 CASQ2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:786 ATF4 biomarker_via_orthology DOID:5453 pulmonary venoocclusive disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:9588 encephalitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18123 ACVR1C biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4556 GPX4 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2719 DDC biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7756 NES biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:995 BCL2L2 biomarker_via_orthology DOID:0002116 pterygium ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16266 SLC19A3 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13345 LPIN1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1084 BNIP3 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:10966 lipoid nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6563 LGALS3 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT biomarker_via_orthology DOID:11044 gastroschisis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8910 PGR biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9401 PRKCE biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 biomarker_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI biomarker_via_orthology DOID:11247 disseminated intravascular coagulation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30620 PDGFD biomarker_via_orthology DOID:4783 mesangial proliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 biomarker_via_orthology DOID:11716 prediabetes syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9582 PTAFR biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6834 MAOB biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6357 KLK1 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3573 FADD biomarker_via_orthology DOID:0060108 brain glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10619 CCL20 biomarker_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19874 BRD8 biomarker_via_orthology DOID:0050861 colorectal adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:620 APP biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1528 CAV2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A biomarker_via_orthology DOID:13948 bladder neck obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3254 EIF2A biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2536 CTSK biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT biomarker_via_orthology DOID:2913 acute pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4798 HABP2 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3346 ENDOG biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7398 MT1F biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:9993 hypoglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11111 SMC1A biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:9446 cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10995 SLC27A1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4468 UTS2R biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:2518 orchitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6563 LGALS3 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17316 TIMM44 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:290 GRK3 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13886 ABCG5 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1507 CASP6 biomarker_via_orthology DOID:10286 prostate carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:3082 interstitial lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 biomarker_via_orthology DOID:11400 pyelonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12009 TPI1 biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:386 AKR1C3 biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5476 IGFBP7 biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6517 LBP biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:4481 allergic rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:352 AIF1 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:823 periapical periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5965 IL10RB biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3263 AGO2 biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 biomarker_via_orthology DOID:5022 aflatoxins-related hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:8717 decubitus ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 biomarker_via_orthology DOID:3388 periodontal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10017 RIT2 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 biomarker_via_orthology DOID:4783 mesangial proliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3263 AGO2 biomarker_via_orthology DOID:2560 morphine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31624 MIR30A biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25641 RNLS biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 biomarker_via_orthology DOID:0080176 meningococcal meningitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8535 P2RX4 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:758 ASS1 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30308 RGMA biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH biomarker_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7397 MT1E biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18795 UBD biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3537 F2R biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:8283 peritonitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH biomarker_via_orthology DOID:0080171 esophageal atresia/tracheoesophageal fistula ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 biomarker_via_orthology DOID:403 mouth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7404 MT1L biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:0060108 brain glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1027 BDH1 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14068 HDAC5 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7408 MT3 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2389 CRYAB biomarker_via_orthology DOID:4448 macular degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1918 CHD3 biomarker_via_orthology DOID:4905 pancreatic carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7397 MT1E biomarker_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7700 NDUFB5 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B biomarker_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:370 AKAP12 biomarker_via_orthology DOID:3347 osteosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD biomarker_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:13001 carotid stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10001 RGS5 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:800 ATP1A2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:971 tendinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24865 GPAM biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9685 PTPRZ1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8783 PDE4D biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12582 UQCRB biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7393 MT1A biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:433 ALOX15 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:11713 diabetic angiopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 biomarker_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 biomarker_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:900 hepatopulmonary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6501 LAMP2 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:8778 Crohn's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9868 RARRES2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9407 PRKD1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:604 APOBEC1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:10533 viral pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:621 NAE1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10499 S100A9 biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11757 TFF3 biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12591 UROD biomarker_via_orthology DOID:3132 porphyria cutanea tarda ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6116 IRF1 biomarker_via_orthology DOID:11204 allergic conjunctivitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20151 SLC17A8 biomarker_via_orthology DOID:5463 cochlear disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11723 TMBIM6 biomarker_via_orthology DOID:3008 invasive ductal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 biomarker_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 biomarker_via_orthology DOID:13948 bladder neck obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19012 CORIN biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:648 ARC biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:2772 irritant dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7996 NRF1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14685 F11R biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS biomarker_via_orthology DOID:2741 bilirubin metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4818 HAS1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9683 PTPRU biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7001 MEIS2 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:54 ABCC3 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH biomarker_via_orthology DOID:0050827 rheumatic heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1912 CHAT biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7398 MT1F biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11906 TNFRSF10C biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4040 FZD2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 biomarker_via_orthology DOID:3891 placental insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7961 NR0B2 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO biomarker_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:417 ALDOB biomarker_via_orthology DOID:8283 peritonitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4075 GABRA1 biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6144 ITGA8 biomarker_via_orthology DOID:4783 mesangial proliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19680 GPBAR1 biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA biomarker_via_orthology DOID:127 leiomyoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:1307 dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7406 MT2A biomarker_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6215 KARS1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6210 CD82 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 biomarker_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 biomarker_via_orthology DOID:10159 osteonecrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB biomarker_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC biomarker_via_orthology DOID:12716 newborn respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:330 AGRP biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31552 MIR181C biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5381 IDE biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2545 CTSS biomarker_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31605 MIR23A biomarker_via_orthology DOID:0060319 cardiac arrest ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 biomarker_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR biomarker_via_orthology DOID:5733 salpingitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 biomarker_via_orthology DOID:2913 acute pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:664 ARG2 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24840 GALP biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10963 SLC22A1 biomarker_via_orthology DOID:1852 intrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3821 FOXO3 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 biomarker_via_orthology DOID:11204 allergic conjunctivitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB biomarker_via_orthology DOID:4451 renal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 biomarker_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2695 DBN1 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 biomarker_via_orthology DOID:3371 chondrosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2590 CYP11A1 biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS biomarker_via_orthology DOID:686 liver carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14946 PPP1R9A biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33437 GSTT2B biomarker_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4880 HEY1 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF biomarker_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2097 CMA1 biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12724 VTN biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6773 SMAD7 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB biomarker_via_orthology DOID:12716 newborn respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17700 CCL28 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27960 SLC6A19 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3364 ENTPD2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB biomarker_via_orthology DOID:13603 obstructive jaundice ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9630 PTN biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3796 FOS biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6482 LAMA2 biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1121 BTC biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:636 AQP3 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2642 CYP4A11 biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8512 OTC biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:370 AKAP12 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2356 CRHBP biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2615 CYP2B6 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29079 KDM1A biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8743 PCSK1 biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4820 HAS3 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:1727 retinal vein occlusion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR biomarker_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17494 GJC2 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA biomarker_via_orthology DOID:0080178 mucositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT biomarker_via_orthology DOID:8440 ileus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6842 MAP2K2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA biomarker_via_orthology DOID:8283 peritonitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9896 RBM10 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14077 NGB biomarker_via_orthology DOID:12510 retinal ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:348 AHR biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5471 IGFBP2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:11396 pulmonary edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7225 MPZ biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4846 HCN2 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8527 OXCT1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC biomarker_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 biomarker_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4288 GJB6 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 biomarker_via_orthology DOID:1793 pancreatic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN biomarker_via_orthology DOID:4451 renal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2695 DBN1 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:12140 Chagas disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:92 ACADVL biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6169 ITIH4 biomarker_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11007 SLC2A3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7174 MMP7 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7393 MT1A biomarker_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11526 TACR1 biomarker_via_orthology DOID:1273 respiratory syncytial virus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6766 MADD biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17650 SH3RF1 biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH biomarker_via_orthology DOID:0050866 oral squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1725 CDC25A biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:9286 priapism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2388 CRYAA biomarker_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 biomarker_via_orthology DOID:823 periapical periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:7166 thyroiditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2620 CYP2C18 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1570 CCKAR biomarker_via_orthology DOID:1793 pancreatic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 biomarker_via_orthology DOID:3068 glioblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9596 PTGER4 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10658 SDC1 biomarker_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16062 CRTC1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2622 CYP2C8 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 biomarker_via_orthology DOID:3071 gliosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4270 GIP biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1548 CBR1 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7421 MT-CO2 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1912 CHAT biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 biomarker_via_orthology DOID:5394 prolactinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG biomarker_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA biomarker_via_orthology DOID:10113 trypanosomiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A biomarker_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9414 PRKG1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4468 UTS2R biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 biomarker_via_orthology DOID:12932 endomyocardial fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11069 SLC8A2 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:42959 BCL2L2-PABPN1 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 biomarker_via_orthology DOID:0081267 graft-versus-host disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:0050696 fetal alcohol spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30554 CCL3L3 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1078 BMPR2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3363 ENTPD1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:12932 endomyocardial fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:8634 prostate carcinoma in situ ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11071 SLC9A1 biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12435 TXN biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10628 CCL3L1 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14291 NLGN1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12801 XBP1 biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 biomarker_via_orthology DOID:1742 drug psychosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3036 DSC2 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16709 CALCRL biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:319 ACAN biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32934 SLCO1B7 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6996 MEF2C biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20151 SLC17A8 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11776 TGIF1 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11517 TAC1 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11827 TJP1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2719 DDC biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10966 SLC22A2 biomarker_via_orthology DOID:1852 intrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1589 CCNE1 biomarker_via_orthology DOID:3571 liver cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:4692 endophthalmitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12744 MLXIPL biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11292 SRI biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:5463 cochlear disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16920 CIB1 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2624 CYP2D7 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2536 CTSK biomarker_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2169 CNTF biomarker_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1073 BMP6 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12576 UPP1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19391 SOCS3 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9160 PNMT biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11772 TGFBR1 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4385 GNAI2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 biomarker_via_orthology DOID:10159 osteonecrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7408 MT3 biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8038 NTS biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 biomarker_via_orthology DOID:9655 oral mucosa leukoplakia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 biomarker_via_orthology DOID:12577 urethral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5217 HSD3B1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7397 MT1E biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2642 CYP4A11 biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5208 HSD11B1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14064 HDAC6 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 biomarker_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 biomarker_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9287 PPP1R1B biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11071 SLC9A1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13886 ABCG5 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A biomarker_via_orthology DOID:893 Wilson disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11602 TBX3 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1073 BMP6 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:14550 root resorption ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL biomarker_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC biomarker_via_orthology DOID:234 colon adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1353 C8B biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:280 ADRA1D biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10840 SHC1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9595 PTGER3 biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9998 RGS2 biomarker_via_orthology DOID:724 female stress incontinence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 biomarker_via_orthology DOID:3042 allergic contact dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8529 OXTR biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9847 RANBP1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7393 MT1A biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11028 SLC4A2 biomarker_via_orthology DOID:11716 prediabetes syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2538 CTSV biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1605 CCR4 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4387 GNAI3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3712 FKBP1B biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7835 NKX2-2 biomarker_via_orthology DOID:3213 demyelinating disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2538 CTSV biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14077 NGB biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11285 SRD5A2 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1232 EGLN1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4318 GLI2 biomarker_via_orthology DOID:0080171 esophageal atresia/tracheoesophageal fistula ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A biomarker_via_orthology DOID:0080784 urinary tract infection ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1479 CAPN2 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3242 EHD1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4571 GRIA1 biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9395 PRKCB biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4087 GABRG2 biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7511 MUC13 biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11073 SLC9A3 biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4243 GFRA1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:395 ALAD biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:992 BCL2L1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:0050865 tongue squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG biomarker_via_orthology DOID:4692 endophthalmitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10000 RGS4 biomarker_via_orthology DOID:11206 opioid abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:526 human immunodeficiency virus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3287 EIF4E biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12404 TTPA biomarker_via_orthology DOID:916 liver benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:11996 spermatic cord torsion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:995 BCL2L2 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9118 PMP22 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10628 CCL3L1 biomarker_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8831 PENK biomarker_via_orthology DOID:0060564 spinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:0050866 oral squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31876 MIR383 biomarker_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 biomarker_via_orthology DOID:9976 heroin dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 biomarker_via_orthology DOID:0050850 diabetic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR biomarker_via_orthology DOID:0050731 vitamin B12 deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF biomarker_via_orthology DOID:4783 mesangial proliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 biomarker_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:14026 folic acid deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:786 ATF4 biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11359 STAR biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:0060319 cardiac arrest ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 biomarker_via_orthology DOID:5113 nutritional deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA biomarker_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9068 PLD2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29799 SGMS1 biomarker_via_orthology DOID:11396 pulmonary edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23059 BCAN biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:604 APOBEC1 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10000 RGS4 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11425 STS biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB biomarker_via_orthology DOID:14219 renal tubular acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6067 INHBB biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3064 DUSP1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:2945 severe acute respiratory syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3822 FOXO3B biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2972 DNM1 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:664 ARG2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA biomarker_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9445 PRL biomarker_via_orthology DOID:5394 prolactinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:939 BAG3 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5224 HSF1 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20575 CYP4A22 biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30403 SCAF1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3227 EFNB2 biomarker_via_orthology DOID:9778 irritable bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1774 CDK5 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1607 CCR6 biomarker_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1479 CAPN2 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3666 FGF10 biomarker_via_orthology DOID:10892 hypospadias ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA biomarker_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7404 MT1L biomarker_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24865 GPAM biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2903 DLG4 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6083 INSIG1 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25223 COQ2 biomarker_via_orthology DOID:10603 glucose intolerance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8155 OPRL1 biomarker_via_orthology DOID:0050696 fetal alcohol spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 biomarker_via_orthology DOID:9974 drug dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 biomarker_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2624 CYP2D7 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3797 FOSB biomarker_via_orthology DOID:2560 morphine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 biomarker_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5209 HSD11B2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 biomarker_via_orthology DOID:0080199 colorectal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 biomarker_via_orthology DOID:8634 prostate carcinoma in situ ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9410 PRKCQ biomarker_via_orthology DOID:2526 prostate adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2537 CTSL biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 biomarker_via_orthology DOID:4483 rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:823 ATP5F1A biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6714 LTBP1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1605 CCR4 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2642 CYP4A11 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30554 CCL3L3 biomarker_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH biomarker_via_orthology DOID:12466 secondary hyperparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 biomarker_via_orthology DOID:4483 rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 biomarker_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9612 PTK2B biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:12577 urethral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:0080784 urinary tract infection ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14544 WNK4 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:60 ABCC9 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 biomarker_via_orthology DOID:2799 bronchiolitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC biomarker_via_orthology DOID:374 nutrition disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 biomarker_via_orthology DOID:2235 prothrombin deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:0050866 oral squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP biomarker_via_orthology DOID:403 mouth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 biomarker_via_orthology DOID:1407 anterior uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6319 KIF3A biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 biomarker_via_orthology DOID:11823 hepatorenal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:576 APAF1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15667 MTPN biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1571 CCKBR biomarker_via_orthology DOID:1793 pancreatic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7139 FOXO4 biomarker_via_orthology DOID:607 paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 biomarker_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23393 CARM1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12298 TRH biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7223 MPST biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3394 EPHB3 biomarker_via_orthology DOID:12365 malaria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4606 PDIA3 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 biomarker_via_orthology DOID:409 liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7954 NPTXR biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1609 CCR8 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 biomarker_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7961 NR0B2 biomarker_via_orthology DOID:1852 intrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3774 FMOD biomarker_via_orthology DOID:971 tendinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6899 MAS1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:638 AQP5 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6021 IL6ST biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 biomarker_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4685 GUCY1A1 biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9886 KDM5A biomarker_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:60 ABCC9 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4174 GATA6 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:900 hepatopulmonary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9035 PLA2G4A biomarker_via_orthology DOID:2671 transitional cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG biomarker_via_orthology DOID:3388 periodontal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13759 CYFIP1 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN biomarker_via_orthology DOID:809 cocaine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4606 PDIA3 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4270 GIP biomarker_via_orthology DOID:26 pancreas disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31527 MIR140 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6774 SMAD9 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2323 CPS1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP biomarker_via_orthology DOID:893 Wilson disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12517 UCP1 biomarker_via_orthology DOID:11716 prediabetes syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3354 ENO3 biomarker_via_orthology DOID:1712 aortic valve stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9238 PPAT biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 biomarker_via_orthology DOID:10892 hypospadias ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9080 PLN biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10628 CCL3L1 biomarker_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1479 CAPN2 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2323 CPS1 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16952 TXNIP biomarker_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:3042 allergic contact dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 biomarker_via_orthology DOID:12140 Chagas disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2537 CTSL biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4604 CXCL3 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23145 MAFA biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:4483 rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11907 TNFRSF10D biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1508 CASP7 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 biomarker_via_orthology DOID:10690 mastitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12338 TRPC6 biomarker_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6694 LRP2 biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8632 PBX1 biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:242 ADCYAP1R1 biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30521 SLC46A1 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5217 HSD3B1 biomarker_via_orthology DOID:12700 hyperprolactinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6115 IREB2 biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10616 CCL18 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5007 HMGCS1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7702 NDUFB7 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7398 MT1F biomarker_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11284 SRD5A1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19004 CASP12 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17967 IRAK4 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN biomarker_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA biomarker_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11141 SNCG biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:633 AQP1 biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5209 HSD11B2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20151 SLC17A8 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2538 CTSV biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3797 FOSB biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1786 CDKN1C biomarker_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4056 G6PC1 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1571 CCKBR biomarker_via_orthology DOID:14115 toxic shock syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10436 RPS6KB1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:409 liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC biomarker_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2766 DEFB1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9751 QARS1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7174 MMP7 biomarker_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1434 CALB1 biomarker_via_orthology DOID:2741 bilirubin metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14661 EGLN3 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4572 GRIA2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3054 DSPP biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4845 HCN1 biomarker_via_orthology DOID:0090131 complex cortical dysplasia with other brain malformations ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29858 NLK biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 biomarker_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4283 GJB1 biomarker_via_orthology DOID:7188 autoimmune thyroiditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2638 CYP3A5 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1964 CHRNB4 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2202 COL4A1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4173 GATA4 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6139 ITGA3 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12744 MLXIPL biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7394 MT1B biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7958 NPY5R biomarker_via_orthology DOID:4247 coronary restenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 biomarker_via_orthology DOID:2450 central retinal vein occlusion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:633 AQP1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2537 CTSL biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16867 RNF40 biomarker_via_orthology DOID:12387 nephrogenic diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2712 DCTN2 biomarker_via_orthology DOID:0050890 synucleinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10886 SIRT2 biomarker_via_orthology DOID:9975 cocaine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1987 CITED2 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5419 IFNA13 biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6838 MAP1LC3A biomarker_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 biomarker_via_orthology DOID:0060074 ductal carcinoma in situ ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2257 CORT biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:277 ADRA1A biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25323 LRP5L biomarker_via_orthology DOID:10159 osteonecrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8872 PFKFB1 biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3239 EGR2 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:429 ALOX12 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:0060108 brain glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7958 NPY5R biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30554 CCL3L3 biomarker_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4271 GIPR biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 biomarker_via_orthology DOID:2560 morphine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5244 HSPA9 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:995 BCL2L2 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16636 KIF1B biomarker_via_orthology DOID:0050890 synucleinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13819 SLCO1C1 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1442 CALM1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:814 ATP2B1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1384 CABP1 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5217 HSD3B1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17288 APOA5 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6783 MAG biomarker_via_orthology DOID:573 nerve compression syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8599 PANX1 biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN biomarker_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5275 KAT5 biomarker_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:188 ADAM10 biomarker_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG biomarker_via_orthology DOID:0050865 tongue squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:14221 abdominal obesity-metabolic syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:11650 bronchopulmonary dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5246 HSPB1 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2357 CRHR1 biomarker_via_orthology DOID:9778 irritable bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 biomarker_via_orthology DOID:3571 liver cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:395 ALAD biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 biomarker_via_orthology DOID:5409 lung small cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5471 IGFBP2 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 biomarker_via_orthology DOID:0060903 thrombosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG biomarker_via_orthology DOID:12556 acute kidney tubular necrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9067 PLD1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 biomarker_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2328 CPT1A biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6772 SMAD6 biomarker_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 biomarker_via_orthology DOID:3910 lung adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:8440 ileus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4819 HAS2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A biomarker_via_orthology DOID:0081267 graft-versus-host disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14934 SIRT6 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14290 NLGN2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2752 PIAS1 biomarker_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8048 NUDT1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:894 AVP biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15936 NCOA6 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18140 RHCG biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2537 CTSL biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:11247 disseminated intravascular coagulation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21689 FIS1 biomarker_via_orthology DOID:13711 dental fluorosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4236 GFER biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6899 MAS1 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 biomarker_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR biomarker_via_orthology DOID:0050850 diabetic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 biomarker_via_orthology DOID:12700 hyperprolactinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3559 FABP4 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2047 CLDN5 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 biomarker_via_orthology DOID:2986 IgA glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10436 RPS6KB1 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10436 RPS6KB1 biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 biomarker_via_orthology DOID:4556 lung large cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:738 ASCL1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10000 RGS4 biomarker_via_orthology DOID:365 bladder disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:620 APP biomarker_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 biomarker_via_orthology DOID:4481 allergic rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:0080108 myoglobinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 biomarker_via_orthology DOID:11088 asphyxia neonatorum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7713 NDUFS6 biomarker_via_orthology DOID:2349 arteriosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6735 LYN biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:539 ANXA2P2 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11828 TJP2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30554 CCL3L3 biomarker_via_orthology DOID:12140 Chagas disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 biomarker_via_orthology DOID:13711 dental fluorosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2726 DDIT3 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6169 ITIH4 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6021 IL6ST biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE biomarker_via_orthology DOID:2297 leptospirosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11000 SLC27A6 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11904 TNFRSF10A biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11092 SLPI biomarker_via_orthology DOID:4692 endophthalmitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:42959 BCL2L2-PABPN1 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13315 HDAC8 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8630 PEBP1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7406 MT2A biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 biomarker_via_orthology DOID:9976 heroin dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4642 GSTT2 biomarker_via_orthology DOID:10595 Charcot-Marie-Tooth disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6836 MAP1B biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11769 TGFB3 biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8021 NT5E biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31505 MIR125A biomarker_via_orthology DOID:0080162 lupus nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23581 TIMM23B biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14884 DNAJA2 biomarker_via_orthology DOID:409 liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:4483 rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4571 GRIA1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2719 DDC biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 biomarker_via_orthology DOID:3458 breast adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24040 ADIPOR1 biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10956 SLCO1A2 biomarker_via_orthology DOID:12308 Dubin-Johnson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6694 LRP2 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6277 KCNK2 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7406 MT2A biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20575 CYP4A22 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:1852 intrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:14183 alcoholic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15516 XYLT1 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR biomarker_via_orthology DOID:0050731 vitamin B12 deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6115 IREB2 biomarker_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA biomarker_via_orthology DOID:2297 leptospirosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD biomarker_via_orthology DOID:12716 newborn respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5246 HSPB1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10810 SGK1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7634 NAIP biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4241 GFPT1 biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2596 CYP1A2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 biomarker_via_orthology DOID:11996 spermatic cord torsion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31648 MIR96 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7400 MT1H biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 biomarker_via_orthology DOID:2799 bronchiolitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11768 TGFB2 biomarker_via_orthology DOID:2256 osteochondrodysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9399 PRKCD biomarker_via_orthology DOID:0080000 muscular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7545 MYB biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7225 MPZ biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11521 TAC3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11526 TACR1 biomarker_via_orthology DOID:4481 allergic rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 biomarker_via_orthology DOID:9455 lipid storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6381 KMO biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:949 BAK1 biomarker_via_orthology DOID:3669 intermittent claudication ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:900 hepatopulmonary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4801 HADHA biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1579 CCNB1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:127 leiomyoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1050 BID biomarker_via_orthology DOID:11650 bronchopulmonary dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6502 RPSA biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8004 NRP1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:42959 BCL2L2-PABPN1 biomarker_via_orthology DOID:0002116 pterygium ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1912 CHAT biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2590 CYP11A1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1084 BNIP3 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:13133 HELLP syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3275 EIF3F biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY biomarker_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA biomarker_via_orthology DOID:8549 chronic ulcer of skin ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9317 PPP3R1 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 biomarker_via_orthology DOID:13603 obstructive jaundice ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7908 NPHS1 biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12698 VLDLR biomarker_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8512 OTC biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:57 aortic valve insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12437 TXNRD1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 biomarker_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 biomarker_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7891 NOX4 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5036 HNRNPD biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 biomarker_via_orthology DOID:11836 clubfoot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:654 overnutrition ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 biomarker_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:257 ADK biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5287 HTR1B biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10995 SLC27A1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9752 QDPR biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10615 CCL17 biomarker_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:2560 morphine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9452 PROCR biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11068 SLC8A1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1513 CASQ2 biomarker_via_orthology DOID:1929 supravalvular aortic stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:93 ACAT1 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5102 HOXA13 biomarker_via_orthology DOID:10892 hypospadias ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1508 CASP7 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:386 AKR1C3 biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1667 CD38 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4819 HAS2 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:319 ACAN biomarker_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M biomarker_via_orthology DOID:0050868 hepatocellular adenoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9005 PITX2 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:14183 alcoholic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31648 MIR96 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9452 PROCR biomarker_via_orthology DOID:13001 carotid stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT biomarker_via_orthology DOID:11716 prediabetes syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 biomarker_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL biomarker_via_orthology DOID:14115 toxic shock syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 biomarker_via_orthology DOID:4783 mesangial proliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6153 ITGB1 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11741 TFAM biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9599 PTGES biomarker_via_orthology DOID:9206 Barrett's esophagus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:361 AK1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 biomarker_via_orthology DOID:12387 nephrogenic diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7189 MOBP biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT biomarker_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2726 DDIT3 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1424 CAD biomarker_via_orthology DOID:3247 rhabdomyosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 biomarker_via_orthology DOID:2518 orchitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9416 PRKG2 biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 biomarker_via_orthology DOID:3891 placental insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M biomarker_via_orthology DOID:10113 trypanosomiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6563 LGALS3 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9395 PRKCB biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 biomarker_via_orthology DOID:13603 obstructive jaundice ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:54 ABCC3 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10616 CCL18 biomarker_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10995 SLC27A1 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11070 SLC8A3 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10628 CCL3L1 biomarker_via_orthology DOID:12140 Chagas disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 biomarker_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6502 RPSA biomarker_via_orthology DOID:9778 irritable bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6357 KLK1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10013 GRK1 biomarker_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4245 GFRA3 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10966 SLC22A2 biomarker_via_orthology DOID:1920 hyperuricemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25323 LRP5L biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2695 DBN1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9998 RGS2 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:607 paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32534 MIR542 biomarker_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:13767 clonorchiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13718 FOSL1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 biomarker_via_orthology DOID:0080333 aortic valve disease 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6719 LTC4S biomarker_via_orthology DOID:574 peripheral nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20292 CAB39 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12657 VAV1 biomarker_via_orthology DOID:614 lymphopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9398 OLIG2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11906 TNFRSF10C biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 biomarker_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 biomarker_via_orthology DOID:4481 allergic rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5237 HSPA4 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 biomarker_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 biomarker_via_orthology DOID:11132 prostatic hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9035 PLA2G4A biomarker_via_orthology DOID:2615 papilloma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9844 RAMP2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13718 FOSL1 biomarker_via_orthology DOID:4451 renal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24865 GPAM biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:3669 intermittent claudication ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4709 GZMB biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4620 GSN biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10911 SLC12A2 biomarker_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 biomarker_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10956 SLCO1A2 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13887 ABCG8 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5238 HSPA5 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA biomarker_via_orthology DOID:13603 obstructive jaundice ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11055 SLC6A8 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10956 SLCO1A2 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:0050848 obstructive sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10487 S100A10 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:5295 intestinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:0050152 aspiration pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2771 CFD biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:346 AHRR biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16940 DGAT2 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6021 IL6ST biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9205 PON2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23631 NPSR1 biomarker_via_orthology DOID:2560 morphine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29079 KDM1A biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3363 ENTPD1 biomarker_via_orthology DOID:1852 intrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 biomarker_via_orthology DOID:11339 pneumocystosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:705 ARPC2 biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 biomarker_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21298 AACS biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:352 AIF1 biomarker_via_orthology DOID:10554 meningoencephalitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6269 KCNJ8 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4846 HCN2 biomarker_via_orthology DOID:2723 dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 biomarker_via_orthology DOID:11650 bronchopulmonary dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2714 DCX biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG biomarker_via_orthology DOID:12935 alcoholic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31736 CKMT1A biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3797 FOSB biomarker_via_orthology DOID:670 amphetamine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 biomarker_via_orthology DOID:0060249 scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7908 NPHS1 biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9298 PPP1R9B biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 biomarker_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB biomarker_via_orthology DOID:12215 oligohydramnios ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 biomarker_via_orthology DOID:12556 acute kidney tubular necrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8831 PENK biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1589 CCNE1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12441 TYMS biomarker_via_orthology DOID:0050861 colorectal adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 biomarker_via_orthology DOID:14679 VACTERL association ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11284 SRD5A1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30022 PPARGC1B biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2900 DLG1 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:13948 bladder neck obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30308 RGMA biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:4483 rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH biomarker_via_orthology DOID:670 amphetamine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7962 NR1D1 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11076 NHERF2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10969 SLC22A5 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8000 NRGN biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:108 ACHE biomarker_via_orthology DOID:2297 leptospirosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:744 ASH2L biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA biomarker_via_orthology DOID:12215 oligohydramnios ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 biomarker_via_orthology DOID:10603 glucose intolerance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:237 ADCY6 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7661 NCF2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1874 CFL1 biomarker_via_orthology DOID:0050731 vitamin B12 deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5238 HSPA5 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:11396 pulmonary edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A biomarker_via_orthology DOID:3891 placental insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4945 HLA-DQB2 biomarker_via_orthology DOID:11339 pneumocystosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5258 HSP90AB1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6126 IRS2 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4604 CXCL3 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6517 LBP biomarker_via_orthology DOID:13603 obstructive jaundice ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2169 CNTF biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6767 SMAD1 biomarker_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3575 FADS2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 biomarker_via_orthology DOID:1727 retinal vein occlusion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:830 ATP5F1B biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:895 AVPR1A biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11529 EPCAM biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4174 GATA6 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12681 VEGFB biomarker_via_orthology DOID:1727 retinal vein occlusion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 biomarker_via_orthology DOID:409 liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6836 MAP1B biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31496 MIR107 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10484 RYR2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8743 PCSK1 biomarker_via_orthology DOID:1799 islet cell tumor ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3573 FADD biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2773 DFFB biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2590 CYP11A1 biomarker_via_orthology DOID:1924 hypogonadism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1736 CDC42 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6838 MAP1LC3A biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 biomarker_via_orthology DOID:409 liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 biomarker_via_orthology DOID:9975 cocaine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9109 PMCH biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10799 SFTPA2 biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10648 AIMP1 biomarker_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8743 PCSK1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1476 CAPN1 biomarker_via_orthology DOID:10230 aortic atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:281 ADRA2A biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11071 SLC9A1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11506 SYP biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:42 ABCB11 biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10646 XCL2 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11609 TBXAS1 biomarker_via_orthology DOID:11111 hydronephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 biomarker_via_orthology DOID:12918 thromboangiitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 biomarker_via_orthology DOID:1727 retinal vein occlusion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 biomarker_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:8437 intestinal obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:52028 MTCO2P12 biomarker_via_orthology DOID:0080199 colorectal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2726 DDIT3 biomarker_via_orthology DOID:5453 pulmonary venoocclusive disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:352 AIF1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:894 AVP biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4288 GJB6 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4604 CXCL3 biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30163 PRMT3 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6116 IRF1 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:894 AVP biomarker_via_orthology DOID:12388 neurohypophyseal diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17397 BANF1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:188 ADAM10 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB biomarker_via_orthology DOID:14525 Reye syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8616 PAX2 biomarker_via_orthology DOID:2154 nephroblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO biomarker_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3711 FKBP1A biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:1287 cardiovascular system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA biomarker_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29595 REG3G biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A biomarker_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:352 AIF1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5187 PRMT1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11092 SLPI biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10477 RXRA biomarker_via_orthology DOID:8634 prostate carcinoma in situ ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC biomarker_via_orthology DOID:5742 pancreatic acinar cell adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3574 FADS1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:10159 osteonecrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 biomarker_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 biomarker_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:648 ARC biomarker_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14068 HDAC5 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12449 TYROBP biomarker_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A biomarker_via_orthology DOID:0050152 aspiration pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6835 MAP1A biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1607 CCR6 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 biomarker_via_orthology DOID:4500 hypokalemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3574 FADS1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5990 IL19 biomarker_via_orthology DOID:3388 periodontal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8614 PAWR biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 biomarker_via_orthology DOID:0050827 rheumatic heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17868 BBC3 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15476 DYNLL1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2422 CS biomarker_via_orthology DOID:3312 bipolar disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2535 CTSH biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3797 FOSB biomarker_via_orthology DOID:9975 cocaine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:2799 bronchiolitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8981 PIK3R3 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9685 PTPRZ1 biomarker_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:14115 toxic shock syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5351 ICOS biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:195 ADAM17 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:2945 severe acute respiratory syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4388 GNAL biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:3388 periodontal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1085 BNIP3L biomarker_via_orthology DOID:11714 gestational diabetes ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9068 PLD2 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:0060224 atrial fibrillation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1087 BOK biomarker_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:370 AKAP12 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10937 SLC19A1 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1664 SCARB1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 biomarker_via_orthology DOID:8440 ileus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:847 ATP5PF biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 biomarker_via_orthology DOID:526 human immunodeficiency virus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2201 COL3A1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1102 BRD1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18122 SOX17 biomarker_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14931 SIRT3 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:216 ADAM9 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6759 MARCKS biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:13100 intracranial vasospasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12516 UCN biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20093 ADSS1 biomarker_via_orthology DOID:1115 sarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2521 CTRB1 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7958 NPY5R biomarker_via_orthology DOID:5394 prolactinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6694 LRP2 biomarker_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:1002 endometritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11086 SLIT2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7330 MSI1 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:850 ATP5PO biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 biomarker_via_orthology DOID:3891 placental insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4923 HK2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 biomarker_via_orthology DOID:2972 renal artery obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11068 SLC8A1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32537 HSP90AB2P biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1706 CD8A biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7391 MSX1 biomarker_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14986 SNAP91 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:8437 intestinal obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10966 SLC22A2 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2538 CTSV biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10645 XCL1 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 biomarker_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20606 IFT88 biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11329 SST biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10643 CXCL6 biomarker_via_orthology DOID:14654 prostatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19391 SOCS3 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6917 MBD2 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4234 GEM biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7727 NEDD4 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7611 MYOD1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3694 FGG biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 biomarker_via_orthology DOID:10534 stomach cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7150 MLYCD biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 biomarker_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6916 MBD1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 biomarker_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11724 TEK biomarker_via_orthology DOID:12176 goiter ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5215 HSD17B7 biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3573 FADD biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8528 OXT biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:0070355 overactive bladder syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R biomarker_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11827 TJP1 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4278 GJA4 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10000 RGS4 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13394 NPHS2 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP biomarker_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31501 MIR122 biomarker_via_orthology DOID:0002116 pterygium ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1874 CFL1 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14866 HHIP biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11028 SLC4A2 biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:0050152 aspiration pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 biomarker_via_orthology DOID:0050852 limb ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6916 MBD1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4266 GHRHR biomarker_via_orthology DOID:535 sleep disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6277 KCNK2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7421 MT-CO2 biomarker_via_orthology DOID:0080199 colorectal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:292 ADSS2 biomarker_via_orthology DOID:1115 sarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2726 DDIT3 biomarker_via_orthology DOID:9870 galactosemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:85 ACACB biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:541 ANXA3 biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13887 ABCG8 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA biomarker_via_orthology DOID:3571 liver cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3177 EDN2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6535 LDHA biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6027 CXCR2 biomarker_via_orthology DOID:823 periapical periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:12800 mucopolysaccharidosis VI ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:217 ADAMTS1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1073 BMP6 biomarker_via_orthology DOID:2355 anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:1407 anterior uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:7188 autoimmune thyroiditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:1825 childhood absence epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1352 C8A biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9854 RANGAP1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2515 CTNND1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4923 HK2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2358 CRHR2 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11827 TJP1 biomarker_via_orthology DOID:936 brain disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7419 MT-CO1 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5302 HTR7 biomarker_via_orthology DOID:9778 irritable bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4267 GHSR biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB biomarker_via_orthology DOID:12215 oligohydramnios ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19004 CASP12 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP biomarker_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1681 CD44 biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9053 PLAUR biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:1115 sarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 biomarker_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20822 ADGRL4 biomarker_via_orthology DOID:3068 glioblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B biomarker_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14065 HDAC9 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:753 ASNS biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 biomarker_via_orthology DOID:6132 bronchitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8743 PCSK1 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2522 CTRB2 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:0050152 aspiration pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7174 MMP7 biomarker_via_orthology DOID:13948 bladder neck obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 biomarker_via_orthology DOID:1407 anterior uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:4248 coronary stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 biomarker_via_orthology DOID:3910 lung adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:221 ADAMTS5 biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 biomarker_via_orthology DOID:607 paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4336 GLUD2 biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:418 ALDOC biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31578 MIR200A biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:700 ARNT biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6126 IRS2 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 biomarker_via_orthology DOID:2548 reflex epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25641 RNLS biomarker_via_orthology DOID:1063 interstitial nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1775 CDK5R1 biomarker_via_orthology DOID:12098 trigeminal neuralgia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:620 APP biomarker_via_orthology DOID:0050850 diabetic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 biomarker_via_orthology DOID:8432 polycythemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2973 DNM1L biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9582 PTAFR biomarker_via_orthology DOID:6195 conjunctivitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 biomarker_via_orthology DOID:13976 peptic esophagitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16940 DGAT2 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3393 EPHB2 biomarker_via_orthology DOID:9778 irritable bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:678 ARHGDIA biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 biomarker_via_orthology DOID:3227 tracheal stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2726 DDIT3 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7672 NCOR1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17019 PRICKLE1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:0050827 rheumatic heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5224 HSF1 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24941 HNRNPA3 biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF biomarker_via_orthology DOID:431 myofascial pain syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 biomarker_via_orthology DOID:12935 alcoholic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4845 HCN1 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:1389 polyneuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17877 NMNAT1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 biomarker_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:361 AK1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24066 CCL4L2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4571 GRIA1 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4604 CXCL3 biomarker_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:317 AFP biomarker_via_orthology DOID:2237 hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7014 MEOX2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2653 CYP8B1 biomarker_via_orthology DOID:10787 premature menopause ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4593 GRM1 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32538 HSP90AB4P biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1084 BNIP3 biomarker_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9685 PTPRZ1 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11757 TFF3 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2651 CYP7A1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB biomarker_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:10112 sleeping sickness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN biomarker_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:221 ADAMTS5 biomarker_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4081 GABRB1 biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR biomarker_via_orthology DOID:11714 gestational diabetes ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2620 CYP2C18 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2499 CTF1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:620 APP biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13448 SLC38A2 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:395 ALAD biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8104 OCLN biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10609 CCL1 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7611 MYOD1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17989 SLC22A12 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A biomarker_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 biomarker_via_orthology DOID:1255 trichostrongyloidiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3555 FABP1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31604 MIR224 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1977 CIDEB biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2596 CYP1A2 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 biomarker_via_orthology DOID:1470 major depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:791 ATF6 biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30278 RFTN1 biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8601 REG3A biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10935 SLC18A2 biomarker_via_orthology DOID:3602 toxic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 biomarker_via_orthology DOID:1793 pancreatic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 biomarker_via_orthology DOID:1222 cartilage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8133 OLR1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10250 ROBO2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:9470 bacterial meningitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10631 CCL4L1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:0050850 diabetic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9630 PTN biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8861 PF4 biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4568 RAPGEF1 biomarker_via_orthology DOID:4783 mesangial proliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3662 FGB biomarker_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:0050868 hepatocellular adenoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16185 ROMO1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC biomarker_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:916 liver benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:8440 ileus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5209 HSD11B2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9238 PPAT biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:10247 pleurisy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1592 CCNG1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7945 NPR3 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6839 MAP2 biomarker_via_orthology DOID:11088 asphyxia neonatorum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 biomarker_via_orthology DOID:13139 crescentic glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:0050848 obstructive sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4634 GSTM2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6767 SMAD1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1131 BTG2 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2082 CLOCK biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11167 SNTA1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6423 KRT16 biomarker_via_orthology DOID:3748 esophagus squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3976 FTH1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 biomarker_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7775 NFATC1 biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:895 AVPR1A biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7467 MTTP biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11389 STK11 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR biomarker_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8743 PCSK1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5217 HSD3B1 biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7956 NPY1R biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29595 REG3G biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1085 BNIP3L biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14077 NGB biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5213 HSD17B4 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6023 IL7 biomarker_via_orthology DOID:3388 periodontal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:438 ALPL biomarker_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2642 CYP4A11 biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 biomarker_via_orthology DOID:670 amphetamine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5224 HSF1 biomarker_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5287 HTR1B biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11329 SST biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:811 ATP2A1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2642 CYP4A11 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 biomarker_via_orthology DOID:574 peripheral nervous system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7107 MKI67 biomarker_via_orthology DOID:0080178 mucositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 biomarker_via_orthology DOID:13603 obstructive jaundice ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:708 ARPC5 biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:395 ALAD biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1241 C1QA biomarker_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2201 COL3A1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:11714 gestational diabetes ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:0050876 Caroli disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11092 SLPI biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM biomarker_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30620 PDGFD biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10000 RGS4 biomarker_via_orthology DOID:12528 lesion of sciatic nerve ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4687 GUCY1B1 biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:593 BIRC5 biomarker_via_orthology DOID:5517 stomach carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13886 ABCG5 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:12932 endomyocardial fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5321 HYAL2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 biomarker_via_orthology DOID:0050200 Korean hemorrhagic fever ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4114 GAL biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 biomarker_via_orthology DOID:2237 hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30092 NAMPT biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA biomarker_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6524 LCK biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10771 SF3B4 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6839 MAP2 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A biomarker_via_orthology DOID:1002 endometritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7962 NR1D1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1795 CDO1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP biomarker_via_orthology DOID:0090109 autosomal dominant hypocalcemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2973 DNM1L biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:11650 bronchopulmonary dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7330 MSI1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31587 MIR210 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5217 HSD3B1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4114 GAL biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1753 CDH13 biomarker_via_orthology DOID:4247 coronary restenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:933 BACE1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2726 DDIT3 biomarker_via_orthology DOID:5154 borna disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 biomarker_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9359 SLC26A5 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6932 MC4R biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B biomarker_via_orthology DOID:4377 egg allergy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 biomarker_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR biomarker_via_orthology DOID:12466 secondary hyperparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 biomarker_via_orthology DOID:4481 allergic rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2269 COX5B biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:9206 Barrett's esophagus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1084 BNIP3 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5217 HSD3B1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:533 ANXA1 biomarker_via_orthology DOID:2671 transitional cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31624 MIR30A biomarker_via_orthology DOID:3526 cerebral infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B biomarker_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:9588 encephalitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 biomarker_via_orthology DOID:4905 pancreatic carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2388 CRYAA biomarker_via_orthology DOID:9870 galactosemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT biomarker_via_orthology DOID:234 colon adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31548 MIR18A biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8728 PCMT1 biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12744 MLXIPL biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2358 CRHR2 biomarker_via_orthology DOID:3877 functional colonic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:367 AKAP1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11765 TGFA biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29330 METTL14 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1084 BNIP3 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7889 NOX1 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 biomarker_via_orthology DOID:418 systemic scleroderma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:8778 Crohn's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2356 CRHBP biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 biomarker_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14063 HDAC4 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 biomarker_via_orthology DOID:1307 dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 biomarker_via_orthology DOID:11088 asphyxia neonatorum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 biomarker_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:845 ATP5PD biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7969 NR1I3 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 biomarker_via_orthology DOID:649 prion disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7645 NAT1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13902 SERPINB7 biomarker_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11907 TNFRSF10D biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19964 VASH1 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A biomarker_via_orthology DOID:12337 varicocele ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4696 GUSB biomarker_via_orthology DOID:12798 mucopolysaccharidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8632 PBX1 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:894 AVP biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA biomarker_via_orthology DOID:14115 toxic shock syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 biomarker_via_orthology DOID:10787 premature menopause ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:804 ATP1B1 biomarker_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:2799 bronchiolitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4336 GLUD2 biomarker_via_orthology DOID:1825 childhood absence epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:649 prion disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13265 CYP4F11 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:823 periapical periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6530 LCT biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2328 CPT1A biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:9402 epididymitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 biomarker_via_orthology DOID:14654 prostatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10522 ACSM3 biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:0050868 hepatocellular adenoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 biomarker_via_orthology DOID:8929 atrophic gastritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2926 DMBT1 biomarker_via_orthology DOID:0050771 pheochromocytoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3072 DUSP6 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3796 FOS biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 biomarker_via_orthology DOID:11573 listeriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20452 INSIG2 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4847 HCRT biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7961 NR0B2 biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 biomarker_via_orthology DOID:820 myocarditis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH biomarker_via_orthology DOID:0080000 muscular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 biomarker_via_orthology DOID:14219 renal tubular acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1507 CASP6 biomarker_via_orthology DOID:1002 endometritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4235 GFAP biomarker_via_orthology DOID:5679 retinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10966 SLC22A2 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9287 PPP1R1B biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:3042 allergic contact dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4243 GFRA1 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:0080176 meningococcal meningitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:2234 focal epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 biomarker_via_orthology DOID:10952 nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM biomarker_via_orthology DOID:13603 obstructive jaundice ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31604 MIR224 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10799 SFTPA2 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2719 DDC biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6563 LGALS3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3255 EIF2AK3 biomarker_via_orthology DOID:5453 pulmonary venoocclusive disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 biomarker_via_orthology DOID:0050865 tongue squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9612 PTK2B biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 biomarker_via_orthology DOID:3571 liver cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4479 MCHR1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP biomarker_via_orthology DOID:2913 acute pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4223 MSTN biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8724 PCK1 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:8577 ulcerative colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11425 STS biomarker_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 biomarker_via_orthology DOID:10124 corneal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2695 DBN1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 biomarker_via_orthology DOID:9477 pulmonary embolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30308 RGMA biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11087 SLIT3 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2653 CYP8B1 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5192 HES1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 biomarker_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13388 BEX3 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1460 CAMK2A biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6131 IRF9 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11044 SLC6A11 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11526 TACR1 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1529 CAV3 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:667 RHOA biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:2945 severe acute respiratory syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10799 SFTPA2 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11801 THY1 biomarker_via_orthology DOID:12510 retinal ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2438 CSF3 biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14932 SIRT4 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2362 CRK biomarker_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG biomarker_via_orthology DOID:0050855 renal fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7980 NR4A1 biomarker_via_orthology DOID:4783 mesangial proliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4336 GLUD2 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2634 CYP2J2 biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:9655 oral mucosa leukoplakia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 biomarker_via_orthology DOID:4914 esophagus adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20292 CAB39 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 biomarker_via_orthology DOID:9282 ocular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6517 LBP biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:277 ADRA1A biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5259 HSP90AB3P biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4335 GLUD1 biomarker_via_orthology DOID:1825 childhood absence epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11389 STK11 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4799 HADH biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 biomarker_via_orthology DOID:11650 bronchopulmonary dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6694 LRP2 biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1874 CFL1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:1679 cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 biomarker_via_orthology DOID:2741 bilirubin metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3129 EBI3 biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6925 MBP biomarker_via_orthology DOID:9588 encephalitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A biomarker_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2705 DCN biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19680 GPBAR1 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6563 LGALS3 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3350 ENO1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4244 GFRA2 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 biomarker_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 biomarker_via_orthology DOID:0070355 overactive bladder syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:195 ADAM17 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B biomarker_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:361 AK1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16007 TRIM63 biomarker_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3976 FTH1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 biomarker_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9399 PRKCD biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB biomarker_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10498 S100A8 biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10371 RPLP0 biomarker_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 biomarker_via_orthology DOID:6364 migraine ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14934 SIRT6 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9081 PLOD1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 biomarker_via_orthology DOID:0050758 metabolic acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 biomarker_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:576 APAF1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3014 DPYSL2 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4604 CXCL3 biomarker_via_orthology DOID:0050152 aspiration pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6228 KCNAB1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A biomarker_via_orthology DOID:14654 prostatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6240 KCNE1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:601 APOA2 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 biomarker_via_orthology DOID:2394 ovarian cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11724 TEK biomarker_via_orthology DOID:12556 acute kidney tubular necrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12524 UGCG biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1937 CHKA biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6112 IRAK1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 biomarker_via_orthology DOID:0080178 mucositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:1440 Machado-Joseph disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:10286 prostate carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4568 RAPGEF1 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1391 CACNA1D biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 biomarker_via_orthology DOID:916 liver benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:10376 amblyopia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4544 GRK5 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7427 MT-CYB biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:220 ADAMTS4 biomarker_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5033 HNRNPA2B1 biomarker_via_orthology DOID:4905 pancreatic carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17635 CD274 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:188 ADAM10 biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8512 OTC biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21689 FIS1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2537 CTSL biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19004 CASP12 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1589 CCNE1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11073 SLC9A3 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17479 RCHY1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14076 CERS2 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11768 TGFB2 biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9998 RGS2 biomarker_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10901 SKP2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:612 APOD biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:9976 heroin dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 biomarker_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5244 HSPA9 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18044 SLC38A3 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4620 GSN biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12428 TWIST1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 biomarker_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 biomarker_via_orthology DOID:14654 prostatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4433 GOT2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5033 HNRNPA2B1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10004 RGS9 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 biomarker_via_orthology DOID:13976 peptic esophagitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3346 ENDOG biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF biomarker_via_orthology DOID:1273 respiratory syncytial virus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4247 GGCX biomarker_via_orthology DOID:0080653 urolithiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6839 MAP2 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 biomarker_via_orthology DOID:9870 galactosemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14085 RTN4 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9110 PMCHL1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:89 ACADM biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:14654 prostatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18044 SLC38A3 biomarker_via_orthology DOID:0050758 metabolic acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:552 pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7408 MT3 biomarker_via_orthology DOID:571 median neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 biomarker_via_orthology DOID:3910 lung adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6925 MBP biomarker_via_orthology DOID:13088 periventricular leukomalacia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9163 PNOC biomarker_via_orthology DOID:0050696 fetal alcohol spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:0050852 limb ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:175 ACVRL1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11106 SMARCD1 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3049 DSG2 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11397 PLK4 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:12577 urethral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4544 GRK5 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 biomarker_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 biomarker_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11048 SLC6A2 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3363 ENTPD1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2201 COL3A1 biomarker_via_orthology DOID:13948 bladder neck obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 biomarker_via_orthology DOID:9975 cocaine dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14289 NLGN3 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 biomarker_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6112 IRAK1 biomarker_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14931 SIRT3 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 biomarker_via_orthology DOID:11400 pyelonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18239 ARHGAP17 biomarker_via_orthology DOID:9408 acute myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2528 CTSC biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8772 PDE10A biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1085 BNIP3L biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4025 FXYD1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11904 TNFRSF10A biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20575 CYP4A22 biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29602 PDPN biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31508 MIR126 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11280 SQSTM1 biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6930 MC2R biomarker_via_orthology DOID:14115 toxic shock syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5183 HRH2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:36404 RPLP0P6 biomarker_via_orthology DOID:14250 Down syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR biomarker_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12538 UGT1A6 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9410 PRKCQ biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP biomarker_via_orthology DOID:1340 pure red-cell aplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3978 ALDH1L1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6876 MAPK14 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12333 TRPC1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3265 EIF2S1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18262 MFN1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6859 MAP3K7 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1503 CASP2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31586 MIR21 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 biomarker_via_orthology DOID:14219 renal tubular acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 biomarker_via_orthology DOID:0050827 rheumatic heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1874 CFL1 biomarker_via_orthology DOID:0050562 West syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6918 MBD3 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20823 DPP10 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 biomarker_via_orthology DOID:5295 intestinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3575 FADS2 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2436 CSF2RB biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7889 NOX1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2348 CREBBP biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1874 CFL1 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:0050865 tongue squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11823 TIMP4 biomarker_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:0080199 colorectal carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 biomarker_via_orthology DOID:3042 allergic contact dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10905 SLC10A1 biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8574 PAFAH1B1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2045 CLDN3 biomarker_via_orthology DOID:13976 peptic esophagitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2389 CRYAB biomarker_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:3071 gliosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3297 EIF4G2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:0080599 Coronavirus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:8283 peritonitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:585 nephrolithiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:217 ADAMTS1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10963 SLC22A1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 biomarker_via_orthology DOID:1793 pancreatic cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8044 NUCB2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:0050696 fetal alcohol spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:837 ATP5F1D biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN biomarker_via_orthology DOID:670 amphetamine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:626 APRT biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10966 SLC22A2 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:0050848 obstructive sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6132 ISL1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5381 IDE biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1631 CD163 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6150 ITGAV biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:633 AQP1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10631 CCL4L1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19383 SOCS1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11724 TEK biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 biomarker_via_orthology DOID:12337 varicocele ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8768 AIFM1 biomarker_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH biomarker_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 biomarker_via_orthology DOID:0050696 fetal alcohol spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13718 FOSL1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11141 SNCG biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA biomarker_via_orthology DOID:9588 encephalitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9657 PTPN5 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 biomarker_via_orthology DOID:0080178 mucositis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 biomarker_via_orthology DOID:10892 hypospadias ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A biomarker_via_orthology DOID:809 cocaine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2726 DDIT3 biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7175 MMP8 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP biomarker_via_orthology DOID:3146 lipid metabolism disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 biomarker_via_orthology DOID:520 aortic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:493 ANK2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8008 NRXN1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6925 MBP biomarker_via_orthology DOID:9743 diabetic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10940 SLC1A2 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO biomarker_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 biomarker_via_orthology DOID:0080652 calcium oxalate nephrolithiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12801 XBP1 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10436 RPS6KB1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21376 FKBP1C biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:8432 polycythemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18062 GPT2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14542 WNK2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:7693 abdominal aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:12554 hemolytic-uremic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10998 SLC27A4 biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3659 FEZ1 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6839 MAP2 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB biomarker_via_orthology DOID:885 fascioliasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6767 SMAD1 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9475 PRSS1 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8976 PIK3CB biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20575 CYP4A22 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24066 CCL4L2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8799 PDGFA biomarker_via_orthology DOID:12215 oligohydramnios ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4270 GIP biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:642 AQP8 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11802 TIA1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9844 RAMP2 biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:799 ATP1A1 biomarker_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11346 IL24 biomarker_via_orthology DOID:3388 periodontal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:800 ATP1A2 biomarker_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:370 AKAP12 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8893 PGF biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3574 FADS1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16704 SLC17A7 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:900 hepatopulmonary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8940 PHYH biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF biomarker_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2638 CYP3A5 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:0050848 obstructive sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12672 VDAC2 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31645 MIR93 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR biomarker_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8799 PDGFA biomarker_via_orthology DOID:8549 chronic ulcer of skin ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:94 ACAT2 biomarker_via_orthology DOID:10787 premature menopause ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH biomarker_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31505 MIR125A biomarker_via_orthology DOID:12098 trigeminal neuralgia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20151 SLC17A8 biomarker_via_orthology DOID:9784 trichinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH biomarker_via_orthology DOID:12700 hyperprolactinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10452 RRM2 biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:10325 silicosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3680 FGF23 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6839 MAP2 biomarker_via_orthology DOID:11294 arteriovenous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4335 GLUD1 biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B biomarker_via_orthology DOID:0050696 fetal alcohol spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:0050859 hemorrhagic cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2662 DAB2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 biomarker_via_orthology DOID:14654 prostatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11905 TNFRSF10B biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9318 PPP3R2 biomarker_via_orthology DOID:0081292 traumatic brain injury ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH biomarker_via_orthology DOID:0060108 brain glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 biomarker_via_orthology DOID:2856 euthyroid sick syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:0060611 abdominal obesity-metabolic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 biomarker_via_orthology DOID:11119 Gilles de la Tourette syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24821 RFFL biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10799 SFTPA2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1399 CACNA2D1 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5154 HPGD biomarker_via_orthology DOID:750 peptic ulcer disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA biomarker_via_orthology DOID:11716 prediabetes syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11820 TIMP1 biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17423 CHST12 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 biomarker_via_orthology DOID:12466 secondary hyperparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 biomarker_via_orthology DOID:14183 alcoholic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14685 F11R biomarker_via_orthology DOID:13976 peptic esophagitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4288 GJB6 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19183 HCN3 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8155 OPRL1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1346 C7 biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13765 IL25 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11284 SRD5A1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3036 DSC2 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR biomarker_via_orthology DOID:10605 short bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7962 NR1D1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8601 REG3A biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:195 ADAM17 biomarker_via_orthology DOID:14004 thoracic aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31624 MIR30A biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16355 GAS5 biomarker_via_orthology DOID:0060319 cardiac arrest ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 biomarker_via_orthology DOID:3891 placental insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:1727 retinal vein occlusion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1995 CKMT1B biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:874 bacterial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9111 PMCHL2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8980 PIK3R2 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9005 PITX2 biomarker_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A biomarker_via_orthology DOID:11574 streptococcal meningitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4637 GSTM5 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1689 CD59 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 biomarker_via_orthology DOID:824 periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8933 PHLDA1 biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2590 CYP11A1 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:217 ADAMTS1 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19004 CASP12 biomarker_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12516 UCN biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:352 AIF1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6925 MBP biomarker_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2082 CLOCK biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:823 ATP5F1A biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16665 APLN biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2726 DDIT3 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9844 RAMP2 biomarker_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A biomarker_via_orthology DOID:8778 Crohn's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2651 CYP7A1 biomarker_via_orthology DOID:13619 extrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 biomarker_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4335 GLUD1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1929 CHGA biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10799 SFTPA2 biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL biomarker_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11642 ZEB1 biomarker_via_orthology DOID:0050827 rheumatic heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 biomarker_via_orthology DOID:0050868 hepatocellular adenoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3573 FADD biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1508 CASP7 biomarker_via_orthology DOID:1002 endometritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17868 BBC3 biomarker_via_orthology DOID:3669 intermittent claudication ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31615 MIR28 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14240 SMPD3 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1358 C9 biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6236 KCNC4 biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23393 CARM1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 biomarker_via_orthology DOID:2799 bronchiolitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:12337 varicocele ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10621 CCL22 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3072 DUSP6 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17497 LZIC biomarker_via_orthology DOID:3347 osteosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10648 AIMP1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA biomarker_via_orthology DOID:11716 prediabetes syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6002 IL20 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10658 SDC1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31532 MIR145 biomarker_via_orthology DOID:13608 biliary atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:12935 alcoholic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 biomarker_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2654 CCN1 biomarker_via_orthology DOID:10941 intracranial aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ biomarker_via_orthology DOID:2018 hyperinsulinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10905 SLC10A1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4983 HMGB1 biomarker_via_orthology DOID:234 colon adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:830 ATP5F1B biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:13025 retinopathy of prematurity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11068 SLC8A1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17909 DUSP16 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31603 MIR223 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10078 RNPEP biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:0080177 hepatic veno-occlusive disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 biomarker_via_orthology DOID:13949 interstitial cystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:251 alcohol-induced mental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4605 GRP biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 biomarker_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:4692 endophthalmitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 biomarker_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6273 KCNK10 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7427 MT-CYB biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M biomarker_via_orthology DOID:11400 pyelonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2714 DCX biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9299 PPP2CA biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10436 RPS6KB1 biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1507 CASP6 biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6021 IL6ST biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8862 PF4V1 biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2592 CYP11B2 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 biomarker_via_orthology DOID:446 primary hyperaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2903 DLG4 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS biomarker_via_orthology DOID:767 muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:52028 MTCO2P12 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7908 NPHS1 biomarker_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3797 FOSB biomarker_via_orthology DOID:0060001 withdrawal disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 biomarker_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4545 GRK6 biomarker_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7393 MT1A biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:11823 hepatorenal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:9478 postpartum depression ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29629 BUD31 biomarker_via_orthology DOID:1395 schistosomiasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 biomarker_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:933 BACE1 biomarker_via_orthology DOID:2491 sensory peripheral neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:2741 bilirubin metabolic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8014 YBX1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31629 MIR30E biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1131 BTG2 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2201 COL3A1 biomarker_via_orthology DOID:0050827 rheumatic heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11926 TNFSF11 biomarker_via_orthology DOID:12800 mucopolysaccharidosis VI ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:2945 severe acute respiratory syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9083 PLOD3 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5993 IL1R1 biomarker_via_orthology DOID:11121 pulpitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31585 MIR208A biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8777 PDE2A biomarker_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 biomarker_via_orthology DOID:4448 macular degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 biomarker_via_orthology DOID:8717 decubitus ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:290 GRK3 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:14654 prostatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10840 SHC1 biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31602 MIR222 biomarker_via_orthology DOID:4043 skeletal muscle cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 biomarker_via_orthology DOID:1074 kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6925 MBP biomarker_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4620 GSN biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:589 ATG5 biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21683 NAPEPLD biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER biomarker_via_orthology DOID:12918 thromboangiitis obliterans ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15476 DYNLL1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3065 DUSP10 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8799 PDGFA biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18083 TRPV4 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6005 IL21 biomarker_via_orthology DOID:3388 periodontal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH biomarker_via_orthology DOID:0090109 autosomal dominant hypocalcemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7076 MIA biomarker_via_orthology DOID:10159 osteonecrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9868 RARRES2 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6416 KRT14 biomarker_via_orthology DOID:7134 esophagus small cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10596 SCN8A biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11985 TOMM70 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:13141 uveitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31517 MIR133A1 biomarker_via_orthology DOID:11714 gestational diabetes ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14881 ZEB2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4604 CXCL3 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12657 VAV1 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 biomarker_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11285 SRD5A2 biomarker_via_orthology DOID:12700 hyperprolactinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 biomarker_via_orthology DOID:2945 severe acute respiratory syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:4195 hyperglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11526 TACR1 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4739 H2AX biomarker_via_orthology DOID:916 liver benign neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1395 CACNA1H biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 biomarker_via_orthology DOID:784 chronic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6551 LEF1 biomarker_via_orthology DOID:0050827 rheumatic heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG biomarker_via_orthology DOID:0050850 diabetic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A biomarker_via_orthology DOID:809 cocaine abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 biomarker_via_orthology DOID:0050848 obstructive sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11912 TNFRSF14 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10897 SKIL biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:8440 ileus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12855 YWHAZ biomarker_via_orthology DOID:1825 childhood absence epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ biomarker_via_orthology DOID:11714 gestational diabetes ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17098 DICER1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:11713 diabetic angiopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6596 LIF biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9992 RGS10 biomarker_via_orthology DOID:11206 opioid abuse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3675 FGF19 biomarker_via_orthology DOID:12351 alcoholic hepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12435 TXN biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 biomarker_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7981 NR4A2 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21744 CPEB1 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 biomarker_via_orthology DOID:13948 bladder neck obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4845 HCN1 biomarker_via_orthology DOID:9471 meningitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9685 PTPRZ1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10631 CCL4L1 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR biomarker_via_orthology DOID:13533 osteopetrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9670 PTPRF biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31561 MIR191 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 biomarker_via_orthology DOID:2256 osteochondrodysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11030 SLC4A4 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:259 ADM biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 biomarker_via_orthology DOID:2394 ovarian cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14068 HDAC5 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH biomarker_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4604 CXCL3 biomarker_via_orthology DOID:2945 severe acute respiratory syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4141 GAPDH biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4604 CXCL3 biomarker_via_orthology DOID:14654 prostatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:4947 cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5136 HOXD13 biomarker_via_orthology DOID:10892 hypospadias ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 biomarker_via_orthology DOID:299 adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2714 DCX biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10727 SEMA3E biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9380 PRKACA biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE biomarker_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9685 PTPRZ1 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10643 CXCL6 biomarker_via_orthology DOID:2945 severe acute respiratory syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1346 C7 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11479 SUV39H1 biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 biomarker_via_orthology DOID:4481 allergic rhinitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1874 CFL1 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B biomarker_via_orthology DOID:4724 brain edema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5156 HPR biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6925 MBP biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3315 ELAVL4 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 biomarker_via_orthology DOID:1470 major depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 biomarker_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1462 CAMK2D biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:461 AMELX biomarker_via_orthology DOID:0090109 autosomal dominant hypocalcemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2328 CPT1A biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8799 PDGFA biomarker_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10647 CX3CL1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 biomarker_via_orthology DOID:3525 middle cerebral artery infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 biomarker_via_orthology DOID:2055 post-traumatic stress disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7139 FOXO4 biomarker_via_orthology DOID:251 alcohol-induced mental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP biomarker_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6621 LIPE biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31613 MIR27A biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14375 PPP1R15A biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2590 CYP11A1 biomarker_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 biomarker_via_orthology DOID:687 hepatoblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3014 DPYSL2 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6563 LGALS3 biomarker_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31630 MIR31 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF biomarker_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3763 FLT1 biomarker_via_orthology DOID:8725 vascular dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:897 AVPR2 biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:216 ADAM9 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24066 CCL4L2 biomarker_via_orthology DOID:4780 anti-basement membrane glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD biomarker_via_orthology DOID:1591 renovascular hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7421 MT-CO2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2634 CYP2J2 biomarker_via_orthology DOID:1073 renal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6236 KCNC4 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:2945 severe acute respiratory syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 biomarker_via_orthology DOID:90 degenerative disc disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9358 PREP biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 biomarker_via_orthology DOID:10976 membranous glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 biomarker_via_orthology DOID:13976 peptic esophagitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31609 MIR25 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8614 PAWR biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:1749 squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:10533 viral pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17993 TRPM4 biomarker_via_orthology DOID:0060319 cardiac arrest ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9376 PRKAA1 biomarker_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2500 CCN2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2444 CSK biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2265 COX4I1 biomarker_via_orthology DOID:11801 protein-energy malnutrition ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4852 HDAC1 biomarker_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:539 ANXA2P2 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4552 GPT biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6710 LTA4H biomarker_via_orthology DOID:1749 squamous cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6838 MAP1LC3A biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B biomarker_via_orthology DOID:5199 ureteral obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:1936 atherosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 biomarker_via_orthology DOID:11044 gastroschisis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD biomarker_via_orthology DOID:11394 adult respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC biomarker_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6710 LTA4H biomarker_via_orthology DOID:299 adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7461 MT-ND5 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B biomarker_via_orthology DOID:11111 hydronephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA biomarker_via_orthology DOID:11713 diabetic angiopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31535 MIR148A biomarker_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 biomarker_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A biomarker_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 biomarker_via_orthology DOID:224 transient cerebral ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7957 NPY2R biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB biomarker_via_orthology DOID:446 primary hyperaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12780 WNT2 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16505 CYGB biomarker_via_orthology DOID:5082 liver cirrhosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8127 OGT biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29079 KDM1A biomarker_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5212 HSD17B3 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3594 FASN biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:1875 impotence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:462 AMELY biomarker_via_orthology DOID:0090109 autosomal dominant hypocalcemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 biomarker_via_orthology DOID:850 lung disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 biomarker_via_orthology DOID:3042 allergic contact dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 biomarker_via_orthology DOID:5463 cochlear disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:537 ANXA2 biomarker_via_orthology DOID:1459 hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10908 SLC11A2 biomarker_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15492 ANKH biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:0080599 Coronavirus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11847 TLR1 biomarker_via_orthology DOID:8677 perinatal necrotizing enterocolitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R biomarker_via_orthology DOID:4248 coronary stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6735 LYN biomarker_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:429 ALOX12 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3353 ENO2 biomarker_via_orthology DOID:14115 toxic shock syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 biomarker_via_orthology DOID:0060074 ductal carcinoma in situ ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8912 PHB1 biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 biomarker_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12693 VIP biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 biomarker_via_orthology DOID:4676 uremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11240 SPHK1 biomarker_via_orthology DOID:299 adenocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4602 CXCL1 biomarker_via_orthology DOID:10533 viral pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:711 ARRB1 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7175 MMP8 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:14654 prostatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3537 F2R biomarker_via_orthology DOID:2316 brain ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9989 RGN biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6526 LCN2 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4317 GLI1 biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1084 BNIP3 biomarker_via_orthology DOID:3083 chronic obstructive pulmonary disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 biomarker_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 biomarker_via_orthology DOID:219 colon cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12744 MLXIPL biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU biomarker_via_orthology DOID:576 proteinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:910 AZGP1 biomarker_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 biomarker_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31495 MIR106B biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 biomarker_via_orthology DOID:0060180 colitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:11650 bronchopulmonary dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2730 DDR1 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16935 ATG7 biomarker_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31601 MIR221 biomarker_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6886 MAPK9 biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:13413 hepatic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 biomarker_via_orthology DOID:1824 status epilepticus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4604 CXCL3 biomarker_via_orthology DOID:10533 viral pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 biomarker_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 biomarker_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21474 INPP5E biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA biomarker_via_orthology DOID:3192 neurilemmoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4623 GSR biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR biomarker_via_orthology DOID:13976 peptic esophagitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:278 ADRA1B biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 biomarker_via_orthology DOID:900 hepatopulmonary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 biomarker_via_orthology DOID:10762 portal hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 biomarker_via_orthology DOID:7998 hyperthyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9998 RGS2 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 biomarker_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2711 DCTN1 biomarker_via_orthology DOID:0050890 synucleinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 biomarker_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4603 CXCL2 biomarker_via_orthology DOID:0080998 acute necrotizing pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:289 GRK2 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5287 HTR1B biomarker_via_orthology DOID:326 ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:14654 prostatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR biomarker_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA biomarker_via_orthology DOID:1168 familial hyperlipidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 biomarker_via_orthology DOID:10825 essential hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:330 AGRP biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 biomarker_via_orthology DOID:10787 premature menopause ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3579 FAH biomarker_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 biomarker_via_orthology DOID:2913 acute pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1953 CHRM4 biomarker_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 biomarker_via_orthology DOID:3454 brain infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 biomarker_via_orthology DOID:1307 dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1951 CHRM2 biomarker_via_orthology DOID:1596 depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4175 GATM biomarker_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 biomarker_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR biomarker_via_orthology DOID:11446 sciatic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4853 HDAC2 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA biomarker_via_orthology DOID:10808 gastric ulcer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 biomarker_via_orthology DOID:0050851 glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 biomarker_via_orthology DOID:3021 acute kidney failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9160 PNMT biomarker_via_orthology DOID:9993 hypoglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 biomarker_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 biomarker_via_orthology DOID:3770 pulmonary fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 biomarker_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1528 CAV2 biomarker_via_orthology DOID:3070 high grade glioma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB biomarker_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4223 MSTN biomarker_via_orthology DOID:341 peripheral vascular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 biomarker_via_orthology DOID:0080855 Parkinsonism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31584 MIR206 biomarker_via_orthology DOID:1574 alcohol use disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:837 ATP5F1D biomarker_via_orthology DOID:5844 myocardial infarction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4140 GAP43 biomarker_via_orthology DOID:11832 visual epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 biomarker_via_orthology DOID:0060071 pre-malignant neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9666 PTPRC biomarker_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 biomarker_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A biomarker_via_orthology DOID:12510 retinal ischemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32594 PREX1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11427 STUB1 implicated_via_orthology DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 implicated_via_orthology DOID:13580 cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14240 SMPD3 implicated_via_orthology DOID:12347 osteogenesis imperfecta ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12693 VIP implicated_via_orthology DOID:14557 primary pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6439 KRT2 implicated_via_orthology DOID:0060877 bullous congenital ichthyosiform erythroderma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7956 NPY1R implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26460 JAKMIP1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1020 BCS1L implicated_via_orthology DOID:0111455 GRACILE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13532 TLX3 implicated_via_orthology DOID:0060731 congenital central hypoventilation syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6511 LARGE1 implicated_via_orthology DOID:11727 facioscapulohumeral muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 implicated_via_orthology DOID:0060582 Noonan syndrome 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20766 TUBA1A implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21590 TAFA3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 implicated_via_orthology DOID:0050466 Loeys-Dietz syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16133 TBC1D20 implicated_via_orthology DOID:0110719 Warburg micro syndrome 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8747 PCSK5 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20611 SLC24A5 implicated_via_orthology DOID:0050633 ocular albinism 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7132 KMT2A implicated_via_orthology DOID:9119 acute myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20606 IFT88 implicated_via_orthology DOID:61 mitral valve disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2962 DYNC2H1 implicated_via_orthology DOID:0110087 asphyxiating thoracic dystrophy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8786 PDE6B implicated_via_orthology DOID:0110375 retinitis pigmentosa 40 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17328 DTNBP1 implicated_via_orthology DOID:0060545 Hermansky-Pudlak syndrome 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL implicated_via_orthology DOID:0111063 hyperphosphatemic familial tumoral calcinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7673 NCOR2 implicated_via_orthology DOID:4971 myelofibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2024 CLCN6 implicated_via_orthology DOID:0110731 neuronal ceroid lipofuscinosis 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11768 TGFB2 implicated_via_orthology DOID:0050466 Loeys-Dietz syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16935 ATG7 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13178 IKZF3 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 implicated_via_orthology DOID:0060370 Parkinson's disease 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10975 SLC24A1 implicated_via_orthology DOID:0110868 congenital stationary night blindness 1D ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1307 CBY1 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15569 CABYR implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7548 MYBL2 implicated_via_orthology DOID:9119 acute myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10938 SLC19A2 implicated_via_orthology DOID:0090117 thiamine-responsive megaloblastic anemia syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24476 DLGAP4 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17019 PRICKLE1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 implicated_via_orthology DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11048 SLC6A2 implicated_via_orthology DOID:10273 heart conduction disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:244 ADD2 implicated_via_orthology DOID:0110916 hereditary spherocytosis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:939 BAG3 implicated_via_orthology DOID:0110448 dilated cardiomyopathy 1HH ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2035 CLDN14 implicated_via_orthology DOID:0110487 autosomal recessive nonsyndromic deafness 29 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 implicated_via_orthology DOID:0110024 age related macular degeneration 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11772 TGFBR1 implicated_via_orthology DOID:0050466 Loeys-Dietz syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8943 SERPINI1 implicated_via_orthology DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7551 MYBPC3 implicated_via_orthology DOID:0110310 hypertrophic cardiomyopathy 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11934 TNFSF4 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18865 KCNT1 implicated_via_orthology DOID:0080439 developmental and epileptic encephalopathy 14 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10894 PRMT5 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2705 DCN implicated_via_orthology DOID:13359 Ehlers-Danlos syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25549 SLURP2 implicated_via_orthology DOID:3390 palmoplantar keratosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2942 DNAH11 implicated_via_orthology DOID:0110605 primary ciliary dyskinesia 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:173 ACVR2A implicated_via_orthology DOID:4258 Weissenbacher-Zweymuller syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13446 SLC2A9 implicated_via_orthology DOID:1920 hyperuricemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 implicated_via_orthology DOID:0060316 orofaciodigital syndrome I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6205 JUNB implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7489 MT-TK implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11799 THRB implicated_via_orthology DOID:3962 thyroid gland follicular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 implicated_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18185 ERRFI1 implicated_via_orthology DOID:1380 endometrial cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25583 ODAD2 implicated_via_orthology DOID:0110609 primary ciliary dyskinesia 23 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:34454 CCDC154 implicated_via_orthology DOID:0110942 autosomal recessive osteopetrosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12816 XPC implicated_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8623 PAX9 implicated_via_orthology DOID:0050591 tooth agenesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37227 KBTBD13 implicated_via_orthology DOID:0110935 nemaline myopathy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11494 SYN1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:1123 spondyloarthropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19185 FRAS1 implicated_via_orthology DOID:11836 clubfoot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:89 ACADM implicated_via_orthology DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 implicated_via_orthology DOID:1595 melancholic depression ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6511 LARGE1 implicated_via_orthology DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 implicated_via_orthology DOID:2734 keratosis follicularis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 implicated_via_orthology DOID:0110341 osteogenesis imperfecta type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14214 CIC implicated_via_orthology DOID:150 disease of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12851 YWHAE implicated_via_orthology DOID:0060469 Miller-Dieker lissencephaly syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24537 CHMP2B implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 implicated_via_orthology DOID:0080174 bladder exstrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6413 KRT10 implicated_via_orthology DOID:4603 epidermolytic hyperkeratosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3512 EXT1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7212 KIF20B implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29331 EPG5 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4385 GNAI2 implicated_via_orthology DOID:0110887 inflammatory bowel disease 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16783 CDC73 implicated_via_orthology DOID:13543 hyperparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27960 SLC6A19 implicated_via_orthology DOID:1060 Hartnup disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26594 DOK7 implicated_via_orthology DOID:0110668 congenital myasthenic syndrome 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 implicated_via_orthology DOID:0050558 Ullrich congenital muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9688 CAVIN1 implicated_via_orthology DOID:0111138 congenital generalized lipodystrophy type 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9319 PPP4C implicated_via_orthology DOID:0070311 oligoasthenoteratozoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16902 BCKDK implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1775 CDK5R1 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29106 DDHD2 implicated_via_orthology DOID:0110806 hereditary spastic paraplegia 54 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25396 FREM2 implicated_via_orthology DOID:0090001 Fraser syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3446 ERG implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2972 DNM1 implicated_via_orthology DOID:1827 idiopathic generalized epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13013 KAT6A implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6111 IQGAP2 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11604 TBX5 implicated_via_orthology DOID:0060468 Holt-Oram syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9107 PLXND1 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3169 S1PR2 implicated_via_orthology DOID:0110519 autosomal recessive nonsyndromic deafness 68 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13030 ZBTB18 implicated_via_orthology DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:325 AGPAT2 implicated_via_orthology DOID:0111135 congenital generalized lipodystrophy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2076 CLN5 implicated_via_orthology DOID:0110728 neuronal ceroid lipofuscinosis 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9075 SERPINF2 implicated_via_orthology DOID:0060601 alpha-2-plasmin inhibitor deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6059 IDO1 implicated_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25396 FREM2 implicated_via_orthology DOID:0111717 isolated cryptophthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26551 DZIP1L implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:0110640 congenital muscular dystrophy due to LMNA mutation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9008 PKD1 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30492 DNAAF3 implicated_via_orthology DOID:0110626 primary ciliary dyskinesia 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7523 TRIM37 implicated_via_orthology DOID:0050436 mulibrey nanism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21485 TBC1D32 implicated_via_orthology DOID:1935 Bardet-Biedl syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12744 MLXIPL implicated_via_orthology DOID:9778 irritable bowel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12801 XBP1 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17728 PMFBP1 implicated_via_orthology DOID:0111922 spermatogenic failure 31 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2687 BRINP1 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A implicated_via_orthology DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4688 GUCY2C implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1373 CA2 implicated_via_orthology DOID:0110941 autosomal recessive osteopetrosis 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1908 VPS13A implicated_via_orthology DOID:0050766 choreaacanthocytosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4192 GCGR implicated_via_orthology DOID:0112306 Mahvash Disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15446 PRPF31 implicated_via_orthology DOID:0110408 retinitis pigmentosa 11 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4433 GOT2 implicated_via_orthology DOID:0050709 early infantile epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18374 HPSE2 implicated_via_orthology DOID:0050816 urofacial syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7632 NAGLU implicated_via_orthology DOID:12801 mucopolysaccharidosis III ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9291 PPP1R3A implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1400 CACNA2D2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7976 NR2F2 implicated_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK implicated_via_orthology DOID:14179 X-linked agammaglobulinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4006 FUCA1 implicated_via_orthology DOID:14500 fucosidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV implicated_via_orthology DOID:2987 familial mediterranean fever ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21246 PNPLA1 implicated_via_orthology DOID:0060719 autosomal recessive congenital ichthyosis 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11948 TNNT1 implicated_via_orthology DOID:0110936 nemaline myopathy 5A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH implicated_via_orthology DOID:0080301 atypical hemolytic-uremic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:0060688 arteriovenous malformations of the brain ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2974 DNM2 implicated_via_orthology DOID:2975 cystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 implicated_via_orthology DOID:9278 hyperargininemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29168 RPGRIP1L implicated_via_orthology DOID:0111002 Joubert syndrome 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2442 CSHL1 implicated_via_orthology DOID:0060872 isolated growth hormone deficiency type II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 implicated_via_orthology DOID:0090130 cortical dysplasia-focal epilepsy syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:4079 heart valve disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14674 PCDH15 implicated_via_orthology DOID:0110481 autosomal recessive nonsyndromic deafness 23 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6644 LMO4 implicated_via_orthology DOID:0060668 anencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2482 CSTB implicated_via_orthology DOID:3535 Unverricht-Lundborg syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 implicated_via_orthology DOID:6406 double outlet right ventricle ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA implicated_via_orthology DOID:0060193 amyotrophic lateral sclerosis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7907 NPHP3 implicated_via_orthology DOID:0111114 nephronophthisis 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11741 TFAM implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23162 ALG10 implicated_via_orthology DOID:0050563 nonsyndromic deafness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10555 ATXN2 implicated_via_orthology DOID:0050955 spinocerebellar ataxia type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12873 ZIC2 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3119 E2F5 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2389 CRYAB implicated_via_orthology DOID:0110250 cataract 16 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS implicated_via_orthology DOID:4184 pseudohypoparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16380 TRIM32 implicated_via_orthology DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15685 B4GAT1 implicated_via_orthology DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10939 SLC1A1 implicated_via_orthology DOID:13544 low tension glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6493 LAMC2 implicated_via_orthology DOID:0060737 junctional epidermolysis bullosa Herlitz type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A implicated_via_orthology DOID:11721 glycogen storage disease VII ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16067 MYOCD implicated_via_orthology DOID:13832 patent ductus arteriosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25815 CEP63 implicated_via_orthology DOID:0050569 Seckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25631 CFAP44 implicated_via_orthology DOID:0070166 spermatogenic failure 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8860 PEX7 implicated_via_orthology DOID:0110851 rhizomelic chondrodysplasia punctata type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 implicated_via_orthology DOID:11211 buphthalmos ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9767 RAB27B implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7190 MOCS1 implicated_via_orthology DOID:0111164 molybdenum cofactor deficiency type A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10882 SIM1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16142 PPDPF implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26837 AMER1 implicated_via_orthology DOID:0060886 osteopathia striata with cranial sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3529 F11 implicated_via_orthology DOID:2229 factor XI deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14262 AUTS2 implicated_via_orthology DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9795 RABGGTA implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18084 TRPV3 implicated_via_orthology DOID:3310 atopic dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28748 SLX1B implicated_via_orthology DOID:0090066 Fanconi-like syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3497 EVC implicated_via_orthology DOID:12714 Ellis-Van Creveld syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6412 KRT1 implicated_via_orthology DOID:4603 epidermolytic hyperkeratosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2411 CRYGD implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6218 KCNA1 implicated_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6269 KCNJ8 implicated_via_orthology DOID:3393 coronary artery disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6423 KRT16 implicated_via_orthology DOID:0050428 nonepidermolytic palmoplantar keratoderma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3233 MEGF8 implicated_via_orthology DOID:0060234 Carpenter syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA implicated_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2082 CLOCK implicated_via_orthology DOID:535 sleep disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12269 TREX1 implicated_via_orthology DOID:0050629 Aicardi-Goutieres syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A implicated_via_orthology DOID:0050704 childhood electroclinical syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13771 SOST implicated_via_orthology DOID:0080036 SOST-related sclerosing bone dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5273 HSPG2 implicated_via_orthology DOID:13481 thanatophoric dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14026 CSMD1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8653 PCCA implicated_via_orthology DOID:14701 propionic acidemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2918 DLX5 implicated_via_orthology DOID:0090021 split hand-foot malformation 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 implicated_via_orthology DOID:3144 cutis laxa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11474 SURF1 implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 implicated_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9455 PROP1 implicated_via_orthology DOID:9406 hypopituitarism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20393 ZIC4 implicated_via_orthology DOID:2785 Dandy-Walker syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14258 CD2AP implicated_via_orthology DOID:0112245 focal segmental glomerulosclerosis 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12872 ZIC1 implicated_via_orthology DOID:2785 Dandy-Walker syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11647 TCIRG1 implicated_via_orthology DOID:0110942 autosomal recessive osteopetrosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20862 SLC39A8 implicated_via_orthology DOID:0060480 left ventricular noncompaction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3749 FLI1 implicated_via_orthology DOID:418 systemic scleroderma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 implicated_via_orthology DOID:4258 Weissenbacher-Zweymuller syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14240 SMPD3 implicated_via_orthology DOID:0110341 osteogenesis imperfecta type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17089 SYNE1 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24605 ZNF521 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1480 CAPN3 implicated_via_orthology DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8850 PEX1 implicated_via_orthology DOID:905 Zellweger syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5439 IFNGR1 implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:877 ALDH7A1 implicated_via_orthology DOID:0080768 pyridoxine-dependent epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7462 MT-ND6 implicated_via_orthology DOID:705 Leber hereditary optic neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7623 MYT1L implicated_via_orthology DOID:0070069 autosomal dominant intellectual developmental disorder 39 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6563 LGALS3 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4277 GJA3 implicated_via_orthology DOID:0110253 cataract 14 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA implicated_via_orthology DOID:4297 scimitar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 implicated_via_orthology DOID:0110122 Axenfeld-Rieger syndrome type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3806 FOXE1 implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31088 ALG10B implicated_via_orthology DOID:0050563 nonsyndromic deafness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11257 SPR implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 implicated_via_orthology DOID:0060193 amyotrophic lateral sclerosis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16898 EFS implicated_via_orthology DOID:8778 Crohn's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19039 ADCK2 implicated_via_orthology DOID:699 mitochondrial myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29450 GLIS2 implicated_via_orthology DOID:0111116 nephronophthisis 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17020 IRAK3 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18185 ERRFI1 implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5363 ID4 implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8945 SERPINI2 implicated_via_orthology DOID:0060479 Shwachman-Diamond syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6932 MC4R implicated_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16009 ASB4 implicated_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16902 BCKDK implicated_via_orthology DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7788 NFIX implicated_via_orthology DOID:0112102 Sotos syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4272 GIT1 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1117 BSN implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17019 PRICKLE1 implicated_via_orthology DOID:0060764 autosomal recessive Robinow syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2348 CREBBP implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3809 FOXF1 implicated_via_orthology DOID:13042 persistent fetal circulation syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:924 B4GALT1 implicated_via_orthology DOID:2986 IgA glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 implicated_via_orthology DOID:2219 Glanzmann's thrombasthenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 implicated_via_orthology DOID:5723 optic atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3960 FSCN2 implicated_via_orthology DOID:0110406 retinitis pigmentosa 30 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20761 ZFYVE26 implicated_via_orthology DOID:0110768 hereditary spastic paraplegia 15 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14344 C1QTNF5 implicated_via_orthology DOID:0060869 late-onset retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2952 DNAH8 implicated_via_orthology DOID:0112164 spermatogenic failure 46 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 implicated_via_orthology DOID:13482 Proteus syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11946 TNNI2 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13446 SLC2A9 implicated_via_orthology DOID:0060611 abdominal obesity-metabolic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11496 SYN3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9885 ARID4A implicated_via_orthology DOID:9119 acute myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1834 CEBPB implicated_via_orthology DOID:2256 osteochondrodysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP biomarker_via_orthology DOID:11758 iron deficiency anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10941 SLC1A3 implicated_via_orthology DOID:13544 low tension glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:226 ADARB1 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16841 LITAF implicated_via_orthology DOID:0110151 Charcot-Marie-Tooth disease type 1C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC implicated_via_orthology DOID:8584 Burkitt lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2148 CNGA1 implicated_via_orthology DOID:0110377 retinitis pigmentosa 49 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:2224 essential thrombocythemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24584 ZNG1E implicated_via_orthology DOID:0080205 CAKUT ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2380 HAPLN1 implicated_via_orthology DOID:14789 spondyloepiphyseal dysplasia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9446 PRLR implicated_via_orthology DOID:0050547 familial medullary thyroid carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14931 SIRT3 implicated_via_orthology DOID:0060611 abdominal obesity-metabolic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7167 MMP20 implicated_via_orthology DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10806 SGCB implicated_via_orthology DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4042 FZD4 implicated_via_orthology DOID:0060844 Norrie disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12886 ZNF106 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2960 DNASE2 implicated_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25808 FAM161A implicated_via_orthology DOID:0110365 retinitis pigmentosa 28 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4241 GFPT1 implicated_via_orthology DOID:0110660 congenital myasthenic syndrome 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2933 DMPK implicated_via_orthology DOID:11722 myotonic dystrophy type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10294 RPE65 implicated_via_orthology DOID:0110353 retinitis pigmentosa 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 implicated_via_orthology DOID:0050660 Beare-Stevenson cutis gyrata syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2954 DNAI1 implicated_via_orthology DOID:0110594 primary ciliary dyskinesia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11908 TNFRSF11A implicated_via_orthology DOID:5408 Paget's disease of bone ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1460 CAMK2A implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23147 UNC13D implicated_via_orthology DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16935 ATG7 implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3126 EBF1 implicated_via_orthology DOID:811 lipodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 implicated_via_orthology DOID:10871 age related macular degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2026 CLCNKA implicated_via_orthology DOID:445 Bartter disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 implicated_via_orthology DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5724 RBPJ implicated_via_orthology DOID:62 aortic valve disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29262 IFT80 implicated_via_orthology DOID:0110086 asphyxiating thoracic dystrophy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN implicated_via_orthology DOID:8552 chronic myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1949 CHRD implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5172 HR implicated_via_orthology DOID:0110701 hypotrichosis 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9867 RARRES1 implicated_via_orthology DOID:0050873 follicular lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6153 ITGB1 implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2260 COX10 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30492 DNAAF3 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6473 AFF3 implicated_via_orthology DOID:0112383 KINSSHIP syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14952 PPP1R14C implicated_via_orthology DOID:0080599 Coronavirus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18708 GRIP1 implicated_via_orthology DOID:11836 clubfoot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 implicated_via_orthology DOID:0110766 hereditary spastic paraplegia 13 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16905 KLHL41 implicated_via_orthology DOID:3191 nemaline myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG implicated_via_orthology DOID:0111136 congenital generalized lipodystrophy type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13243 LMBR1 implicated_via_orthology DOID:0050603 acheiropody ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6219 KCNA10 implicated_via_orthology DOID:3426 vestibular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24579 CIB2 implicated_via_orthology DOID:0110505 autosomal recessive nonsyndromic deafness 48 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12703 BEST1 implicated_via_orthology DOID:0050661 vitelliform macular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4329 GLRB implicated_via_orthology DOID:0060697 hyperekplexia 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:13042 persistent fetal circulation syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A implicated_via_orthology DOID:13884 sick sinus syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9689 PTS implicated_via_orthology DOID:0090106 BH4-deficient hyperphenylalaninemia A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12851 YWHAE implicated_via_orthology DOID:0060480 left ventricular noncompaction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7963 NR1D2 implicated_via_orthology DOID:0050651 atrioventricular septal defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12496 UBE3A implicated_via_orthology DOID:1932 Angelman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3821 FOXO3 implicated_via_orthology DOID:5117 dermoid cyst of ovary ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24846 GAS2L2 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6269 KCNJ8 implicated_via_orthology DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3325 ELK3 implicated_via_orthology DOID:0060646 congenital chylothorax ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23399 FREM1 implicated_via_orthology DOID:0060732 chromosome 9p deletion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24206 BLOC1S4 implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2586 CLIP2 implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4367 GM2A implicated_via_orthology DOID:4795 GM2 gangliosidosis, AB variant ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11411 CDKL5 implicated_via_orthology DOID:0080467 developmental and epileptic encephalopathy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 implicated_via_orthology DOID:446 primary hyperaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:0110453 dilated cardiomyopathy 1EE ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15459 P2RX2 implicated_via_orthology DOID:0110567 autosomal dominant nonsyndromic deafness 41 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3816 FOXJ1 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:924 B4GALT1 implicated_via_orthology DOID:28 endocrine system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12877 ZMPSTE24 implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13930 CCHCR1 implicated_via_orthology DOID:986 alopecia areata ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11153 SNRPB implicated_via_orthology DOID:0111248 cerebrocostomandibular syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17482 GPR132 implicated_via_orthology DOID:417 autoimmune disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24542 DPCD implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10472 RUNX2 implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10939 SLC1A1 implicated_via_orthology DOID:0060650 dicarboxylic aminoaciduria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2890 DKC1 implicated_via_orthology DOID:2729 dyskeratosis congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 implicated_via_orthology DOID:0080052 acromesomelic dysplasia, Grebe type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16400 NLRP3 implicated_via_orthology DOID:0090029 CINCA Syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9756 QSOX1 implicated_via_orthology DOID:14679 VACTERL association ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS implicated_via_orthology DOID:9263 homocystinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20087 TTC8 implicated_via_orthology DOID:0110130 Bardet-Biedl syndrome 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3686 FGF8 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 implicated_via_orthology DOID:2231 factor XII deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 implicated_via_orthology DOID:4971 myelofibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7121 MKS1 implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6833 MAOA implicated_via_orthology DOID:0060693 Brunner Syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19351 BICC1 implicated_via_orthology DOID:2975 cystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11117 SMN1 implicated_via_orthology DOID:12376 juvenile spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6824 MAN2A1 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:644 AR implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10914 SLC12A6 implicated_via_orthology DOID:2477 motor peripheral neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7224 MPV17 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 implicated_via_orthology DOID:2975 cystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5017 HMX1 implicated_via_orthology DOID:0060482 oculoauricular syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3512 EXT1 implicated_via_orthology DOID:206 hereditary multiple exostoses ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7910 NPM1 implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26406 SCLT1 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL implicated_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2186 COL11A1 implicated_via_orthology DOID:0080046 Stickler syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20147 CYB5R4 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20039 CAP2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13356 MCOLN1 implicated_via_orthology DOID:0080490 mucolipidosis type IV ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3767 FLT4 implicated_via_orthology DOID:0050580 hereditary lymphedema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21641 TSPAN12 implicated_via_orthology DOID:0050535 exudative vitreoretinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 implicated_via_orthology DOID:0080600 COVID-19 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:4971 myelofibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:319 ACAN implicated_via_orthology DOID:4480 achondroplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8549 BLOC1S6 implicated_via_orthology DOID:0060547 Hermansky-Pudlak syndrome 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2509 CTNNA1 implicated_via_orthology DOID:0060864 patterned macular dystrophy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 implicated_via_orthology DOID:0060227 Adams-Oliver syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9459 PROX1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21376 FKBP1C implicated_via_orthology DOID:0050476 Barth syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1343 TRAF3IP2 implicated_via_orthology DOID:3310 atopic dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2770 DES implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30391 IFT172 implicated_via_orthology DOID:0050651 atrioventricular septal defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16495 PLSCR3 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10477 RXRA implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19689 RD3 implicated_via_orthology DOID:0110080 Leber congenital amaurosis 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10591 SCN4A implicated_via_orthology DOID:14451 hyperkalemic periodic paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14103 ARHGEF10 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15508 PUS1 implicated_via_orthology DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15947 UACA implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3647 FECH implicated_via_orthology DOID:13270 erythropoietic protoporphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4689 GUCY2D implicated_via_orthology DOID:0111011 cone-rod dystrophy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19747 EVC2 implicated_via_orthology DOID:12714 Ellis-Van Creveld syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25244 CCDC39 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18290 CMAS implicated_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8592 PAK3 implicated_via_orthology DOID:0112051 non-syndromic X-linked intellectual disability 30 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1736 CDC42 implicated_via_orthology DOID:0060775 microvillus inclusion disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2974 DNM2 implicated_via_orthology DOID:14717 centronuclear myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24123 B9D1 implicated_via_orthology DOID:0050778 Meckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 implicated_via_orthology DOID:2512 nevoid basal cell carcinoma syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19351 BICC1 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17907 ZNG1B implicated_via_orthology DOID:0080205 CAKUT ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2528 CTSC implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9180 POLG2 implicated_via_orthology DOID:12679 nephrocalcinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17734 TAAR1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19368 HYDIN implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3054 DSPP implicated_via_orthology DOID:4154 dentinogenesis imperfecta ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:234 ADCY3 implicated_via_orthology DOID:1470 major depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16499 RAB39B implicated_via_orthology DOID:0112059 non-syndromic X-linked intellectual disability 72 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11100 SMARCA4 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3178 EDN3 implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11033 SLC4A7 implicated_via_orthology DOID:0110839 Usher syndrome type 2C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24245 DRC1 implicated_via_orthology DOID:0110596 primary ciliary dyskinesia 21 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10998 SLC27A4 implicated_via_orthology DOID:0060762 restrictive dermopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17328 DTNBP1 implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21390 RIPPLY2 implicated_via_orthology DOID:0050568 spondylocostal dysostosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23145 MAFA implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:2729 dyskeratosis congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 implicated_via_orthology DOID:0111046 platelet-type bleeding disorder 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5351 ICOS implicated_via_orthology DOID:12177 common variable immunodeficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A implicated_via_orthology DOID:0050214 Lambert-Eaton myasthenic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12855 YWHAZ implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3724 FKBP8 implicated_via_orthology DOID:0080016 spina bifida ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4135 GALT implicated_via_orthology DOID:9870 galactosemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7680 NDST1 implicated_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2389 CRYAB implicated_via_orthology DOID:0080093 myofibrillar myopathy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 implicated_via_orthology DOID:0110644 long QT syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 implicated_via_orthology DOID:10486 intestinal atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14525 CHORDC1 implicated_via_orthology DOID:8552 chronic myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7224 MPV17 implicated_via_orthology DOID:0080121 mitochondrial DNA depletion syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26988 METTL23 implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7941 NPPC implicated_via_orthology DOID:4480 achondroplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23537 DHTKD1 implicated_via_orthology DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28648 DIS3L2 implicated_via_orthology DOID:0060476 Perlman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30700 TSHZ3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6613 LIMK1 implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11059 SLC7A11 implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7225 MPZ implicated_via_orthology DOID:0110152 Charcot-Marie-Tooth disease type 1B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 implicated_via_orthology DOID:14731 Weaver syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9235 PPARD implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2714 DCX implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17022 HPS5 implicated_via_orthology DOID:0060543 Hermansky-Pudlak syndrome 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4086 GABRG1 implicated_via_orthology DOID:12098 trigeminal neuralgia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:0080072 intestinal pseudo-obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1718 CDC14A implicated_via_orthology DOID:0110491 autosomal recessive nonsyndromic deafness 32 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2202 COL4A1 implicated_via_orthology DOID:0060263 porencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:576 APAF1 implicated_via_orthology DOID:3490 Noonan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 implicated_via_orthology DOID:0050794 multiple synostoses syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1665 SCARB2 implicated_via_orthology DOID:891 progressive myoclonus epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2654 CCN1 implicated_via_orthology DOID:0050651 atrioventricular septal defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20718 OTUD7A implicated_via_orthology DOID:0060394 chromosome 15q13.3 microdeletion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15710 LDB3 implicated_via_orthology DOID:0081337 congenital myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7787 NFIL3 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26186 TMEM53 implicated_via_orthology DOID:0112340 craniotubular dysplasia Ikegawa type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6694 LRP2 implicated_via_orthology DOID:0090144 Donnai-Barrow syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1494 ALX1 implicated_via_orthology DOID:0081047 frontonasal dysplasia 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3815 FOXI1 implicated_via_orthology DOID:0060744 Pendred Syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4237 GFI1 implicated_via_orthology DOID:0050590 severe congenital neutropenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16935 ATG7 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH implicated_via_orthology DOID:0110964 brachydactyly type A1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1241 C1QA implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR implicated_via_orthology DOID:13543 hyperparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 implicated_via_orthology DOID:9955 hypoplastic left heart syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10325 RPL24 implicated_via_orthology DOID:5723 optic atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS implicated_via_orthology DOID:9279 hyperhomocysteinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR implicated_via_orthology DOID:0080599 Coronavirus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7188 MNT implicated_via_orthology DOID:0060469 Miller-Dieker lissencephaly syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30452 CIBAR1 implicated_via_orthology DOID:1148 polydactyly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10682 SDHC implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11132 SNAP25 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 implicated_via_orthology DOID:2377 multiple sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25244 CCDC39 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2950 DNAH5 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2919 DLX6 implicated_via_orthology DOID:0090021 split hand-foot malformation 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18672 CDK5RAP2 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30500 PRRT2 implicated_via_orthology DOID:0090053 episodic kinesigenic dyskinesia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7045 MGAT2 implicated_via_orthology DOID:0070253 congenital disorder of glycosylation type IIa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18248 ELP2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11720 TECTA implicated_via_orthology DOID:0110544 autosomal dominant nonsyndromic deafness 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6685 LRAT implicated_via_orthology DOID:0110188 Leber congenital amaurosis 14 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29947 TRAK1 implicated_via_orthology DOID:13366 Stiff-Person syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10923 SLC16A2 implicated_via_orthology DOID:0050631 Allan-Herndon-Dudley syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26661 RNF168 implicated_via_orthology DOID:0090113 RIDDLE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2021 CLCN3 implicated_via_orthology DOID:0110731 neuronal ceroid lipofuscinosis 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR implicated_via_orthology DOID:0111008 X-linked cone-rod dystrophy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16406 EFHC1 implicated_via_orthology DOID:4890 juvenile myoclonic epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7391 MSX1 implicated_via_orthology DOID:0050567 orofacial cleft ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 implicated_via_orthology DOID:0110334 osteogenesis imperfecta type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9551 PSMC4 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12862 ZFP36 implicated_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 implicated_via_orthology DOID:9007 sudden infant death syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9280 PPOX implicated_via_orthology DOID:4346 variegate porphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 implicated_via_orthology DOID:0111001 Joubert syndrome 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:1380 endometrial cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11030 SLC4A4 implicated_via_orthology DOID:14219 renal tubular acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7411 MTA2 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15917 PLCB1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6441 KRT4 implicated_via_orthology DOID:0050448 white sponge nevus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28486 MFSD8 implicated_via_orthology DOID:0110722 neuronal ceroid lipofuscinosis 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7679 NDRG1 implicated_via_orthology DOID:0110186 Charcot-Marie-Tooth disease type 4D ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7114 MKRN3 implicated_via_orthology DOID:0112309 central precocious puberty 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5227 HSF4 implicated_via_orthology DOID:0110255 cataract 5 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2202 COL4A1 implicated_via_orthology DOID:0050560 Walker-Warburg syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25531 FAR2 implicated_via_orthology DOID:10140 dry eye syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2183 VPS13B implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:88 ACADL implicated_via_orthology DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 implicated_via_orthology DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14294 SHANK3 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12731 WAS implicated_via_orthology DOID:2986 IgA glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13590 FBXO11 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18130 SYCP3 implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25801 CPLANE1 implicated_via_orthology DOID:0110986 Joubert syndrome 17 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2287 COX7A1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3147 ECEL1 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11642 ZEB1 implicated_via_orthology DOID:321 tropical spastic paraparesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21485 TBC1D32 implicated_via_orthology DOID:14679 VACTERL association ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30829 TUBB2B implicated_via_orthology DOID:0090132 complex cortical dysplasia with other brain malformations 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6158 ITGB4 implicated_via_orthology DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:451 AMACR implicated_via_orthology DOID:0060602 alpha-methylacyl-CoA racemase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18253 PARL implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9016 PKHD1 implicated_via_orthology DOID:0080212 polycystic kidney disease 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18561 BLOC1S5 implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1076 BMPR1A implicated_via_orthology DOID:14289 Ebstein anomaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17870 INVS implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16001 SUGCT implicated_via_orthology DOID:0112246 glutaric acidemia type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9326 PPT2 implicated_via_orthology DOID:14503 neuronal ceroid lipofuscinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23246 MYPN implicated_via_orthology DOID:397 restrictive cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18196 SOX7 implicated_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14244 RAB18 implicated_via_orthology DOID:0110718 Warburg micro syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:969 BBS4 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6532 LDB1 implicated_via_orthology DOID:9467 nail-patella syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2942 DNAH11 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24042 WWTR1 implicated_via_orthology DOID:12712 nephronophthisis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 implicated_via_orthology DOID:0080015 physical disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17399 ARHGAP32 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3818 FOXM1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15529 NLGN4Y implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29814 MUS81 implicated_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7594 MYO15A implicated_via_orthology DOID:0110488 autosomal recessive nonsyndromic deafness 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26777 ALDH1L2 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3818 FOXM1 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 implicated_via_orthology DOID:0050632 oculocutaneous albinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7549 MYBPC1 implicated_via_orthology DOID:0081337 congenital myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR implicated_via_orthology DOID:0110414 retinitis pigmentosa 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18099 DEFB119 implicated_via_orthology DOID:229 female reproductive system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14974 SNX10 implicated_via_orthology DOID:0110940 autosomal recessive osteopetrosis 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16062 CRTC1 implicated_via_orthology DOID:1470 major depressive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1943 CHN1 implicated_via_orthology DOID:12557 Duane retraction syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17717 STK39 implicated_via_orthology DOID:4479 pseudohypoaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3670 FGF13 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:493 ANK2 implicated_via_orthology DOID:0111700 ankyrin-B-related cardiac arrhythmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20151 SLC17A8 implicated_via_orthology DOID:0110555 autosomal dominant nonsyndromic deafness 25 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16952 TXNIP implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9956 RELB implicated_via_orthology DOID:3310 atopic dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 implicated_via_orthology DOID:0050848 obstructive sleep apnea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:14221 abdominal obesity-metabolic syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3255 EIF2AK3 implicated_via_orthology DOID:0090060 Wolcott-Rallison syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2962 DYNC2H1 implicated_via_orthology DOID:14679 VACTERL association ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17129 SLC39A4 implicated_via_orthology DOID:0050605 acrodermatitis enteropathica ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9498 PSAP implicated_via_orthology DOID:0111330 combined saposin deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG implicated_via_orthology DOID:14557 primary pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 implicated_via_orthology DOID:0060285 parietal foramina ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 implicated_via_orthology DOID:12583 velocardiofacial syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 implicated_via_orthology DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL implicated_via_orthology DOID:9007 sudden infant death syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6694 LRP2 implicated_via_orthology DOID:1062 Fanconi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6416 KRT14 implicated_via_orthology DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 implicated_via_orthology DOID:2211 factor XIII deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12791 WRN implicated_via_orthology DOID:5688 Werner syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11495 SYN2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1072 BMP5 implicated_via_orthology DOID:0060306 Meier-Gorlin syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2348 CREBBP implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13210 ARL6 implicated_via_orthology DOID:0110125 Bardet-Biedl syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 implicated_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6021 IL6ST implicated_via_orthology DOID:10534 stomach cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27232 CFAP418 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2468 SMC3 implicated_via_orthology DOID:0080507 Cornelia de Lange syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4854 HDAC3 implicated_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26392 PTCHD1 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18817 HPS6 implicated_via_orthology DOID:0060544 Hermansky-Pudlak syndrome 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18519 ZNG1C implicated_via_orthology DOID:0080205 CAKUT ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:936 brain disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH implicated_via_orthology DOID:0060850 annular pancreas ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18234 MOCOS implicated_via_orthology DOID:0070314 obstructive nephropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25302 COQ9 implicated_via_orthology DOID:0050730 coenzyme Q10 deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR implicated_via_orthology DOID:62 aortic valve disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6204 JUN implicated_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 implicated_via_orthology DOID:0110998 Joubert syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 implicated_via_orthology DOID:1926 Gaucher's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6694 LRP2 implicated_via_orthology DOID:11829 degenerative myopia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18873 IFIH1 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:1380 endometrial cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10588 SCN2A implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7683 NDUFA1 implicated_via_orthology DOID:0060536 mitochondrial complex I deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20373 SPG21 implicated_via_orthology DOID:0060245 Mast syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2363 CRKL implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8877 PFKM implicated_via_orthology DOID:11721 glycogen storage disease VII ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3666 FGF10 implicated_via_orthology DOID:0050331 lacrimoauriculodentodigital syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16812 COQ8A implicated_via_orthology DOID:0070241 primary coenzyme Q10 deficiency 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4235 GFAP implicated_via_orthology DOID:4252 Alexander disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1974 CHUK implicated_via_orthology DOID:0060647 fetal encasement syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3413 EPM2A implicated_via_orthology DOID:3534 Lafora disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27375 MSRB3 implicated_via_orthology DOID:0110523 autosomal recessive nonsyndromic deafness 74 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 implicated_via_orthology DOID:0111103 maturity-onset diabetes of the young type 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 implicated_via_orthology DOID:0050535 exudative vitreoretinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1940 CHM implicated_via_orthology DOID:9821 choroideremia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 implicated_via_orthology DOID:0080599 Coronavirus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 implicated_via_orthology DOID:18 urinary system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4311 GCLC implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8549 BLOC1S6 implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26293 SPEF2 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14544 WNK4 implicated_via_orthology DOID:0050450 Gitelman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2441 CSH2 implicated_via_orthology DOID:0060872 isolated growth hormone deficiency type II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20767 PDLIM3 implicated_via_orthology DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24542 DPCD implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3686 FGF8 implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21485 TBC1D32 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10586 SCN1B implicated_via_orthology DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2323 CPS1 implicated_via_orthology DOID:9280 carbamoyl phosphate synthetase I deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6932 MC4R implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18248 ELP2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 implicated_via_orthology DOID:0060872 isolated growth hormone deficiency type II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 implicated_via_orthology DOID:0060249 scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4909 HIC1 implicated_via_orthology DOID:0060469 Miller-Dieker lissencephaly syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16636 KIF1B implicated_via_orthology DOID:0110154 Charcot-Marie-Tooth disease type 2A1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6490 LAMB3 implicated_via_orthology DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:67 ABCD3 implicated_via_orthology DOID:0111066 congenital bile acid synthesis defect 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7744 NEK1 implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20800 SLC35D1 implicated_via_orthology DOID:0050775 schneckenbecken dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16090 PGRMC1 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11291 SRF implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6932 MC4R implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4167 GAS2 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14467 SLC26A7 implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4061 SLC37A4 implicated_via_orthology DOID:2749 glycogen storage disease Ia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 implicated_via_orthology DOID:10871 age related macular degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19139 POMGNT1 implicated_via_orthology DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX implicated_via_orthology DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12559 UMOD implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:933 BACE1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:125 ACP3 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30791 UBIAD1 implicated_via_orthology DOID:0060456 Schnyder corneal dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA implicated_via_orthology DOID:0060365 mandibulofacial dysostosis with alopecia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18448 NEIL1 implicated_via_orthology DOID:0060611 abdominal obesity-metabolic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11280 SQSTM1 implicated_via_orthology DOID:5408 Paget's disease of bone ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13533 ATP8A2 implicated_via_orthology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8927 PHKB implicated_via_orthology DOID:0111041 glycogen storage disease IXb ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20347 VIPAS39 implicated_via_orthology DOID:0050763 ARC syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2186 COL11A1 implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA implicated_via_orthology DOID:3310 atopic dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4285 GJB3 implicated_via_orthology DOID:0050467 erythrokeratodermia variabilis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3330 EML1 implicated_via_orthology DOID:2490 congenital nervous system abnormality ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3756 FLNC implicated_via_orthology DOID:0080096 myofibrillar myopathy 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:888 KIF1A implicated_via_orthology DOID:0110781 hereditary spastic paraplegia 30 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:216 ADAM9 implicated_via_orthology DOID:0111020 cone-rod dystrophy 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6181 ITPR2 implicated_via_orthology DOID:0060603 isolated anhidrosis with normal sweat glands ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 implicated_via_orthology DOID:12365 malaria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14291 NLGN1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5039 HNRNPF implicated_via_orthology DOID:9432 renal glycosuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9001 PITPNA implicated_via_orthology DOID:0060357 chylomicron retention disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29433 NEXMIF implicated_via_orthology DOID:0112044 non-syndromic X-linked intellectual disability 98 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6483 LAMA3 implicated_via_orthology DOID:3209 junctional epidermolysis bullosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2932 DMP1 implicated_via_orthology DOID:0050949 autosomal recessive hypophosphatemic rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6251 KCNH2 implicated_via_orthology DOID:0050793 short QT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9688 CAVIN1 implicated_via_orthology DOID:6432 pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 implicated_via_orthology DOID:0080599 Coronavirus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13345 LPIN1 implicated_via_orthology DOID:811 lipodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 implicated_via_orthology DOID:0060591 WHIM syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8785 PDE6A implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 implicated_via_orthology DOID:11119 Gilles de la Tourette syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:62 aortic valve disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 implicated_via_orthology DOID:14761 Greig cephalopolysyndactyly syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB implicated_via_orthology DOID:8946 severe nonproliferative diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19261 MTO1 implicated_via_orthology DOID:0060286 combined oxidative phosphorylation deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3724 FKBP8 implicated_via_orthology DOID:11836 clubfoot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9604 PTGS1 implicated_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15749 BPIFA1 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9607 PTHLH implicated_via_orthology DOID:4480 achondroplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10681 SDHB implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6218 KCNA1 implicated_via_orthology DOID:0050989 episodic ataxia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 implicated_via_orthology DOID:0050778 Meckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3587 FANCF implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8023 NTF3 implicated_via_orthology DOID:0110106 atrial heart septal defect 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3018 SLC26A3 implicated_via_orthology DOID:0060296 congenital secretory chloride diarrhea 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17348 PRPF3 implicated_via_orthology DOID:0110356 retinitis pigmentosa 18 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31572 MIR199A2 implicated_via_orthology DOID:1206 Rett syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4849 HCRTR2 implicated_via_orthology DOID:8986 narcolepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10263 RP1 implicated_via_orthology DOID:0110390 retinitis pigmentosa 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29427 SH3TC2 implicated_via_orthology DOID:0110183 Charcot-Marie-Tooth disease type 4C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:493 ANK2 implicated_via_orthology DOID:12849 autistic disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 implicated_via_orthology DOID:11044 gastroschisis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10458 RSC1A1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN implicated_via_orthology DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 implicated_via_orthology DOID:13270 erythropoietic protoporphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 implicated_via_orthology DOID:13544 low tension glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16400 NLRP3 implicated_via_orthology DOID:0090062 familial cold autoinflammatory syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24783 LRIT3 implicated_via_orthology DOID:0110864 congenital stationary night blindness 1F ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23251 AWAT2 implicated_via_orthology DOID:10140 dry eye syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6814 MAGEL2 implicated_via_orthology DOID:11983 Prader-Willi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT implicated_via_orthology DOID:3263 piebaldism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:1712 aortic valve stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30213 ATP13A2 implicated_via_orthology DOID:0060556 Kufor-Rakeb syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15844 HPS4 implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR implicated_via_orthology DOID:13810 familial hypercholesterolemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6121 IRF6 implicated_via_orthology DOID:0060239 Van der Woude syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6511 LARGE1 implicated_via_orthology DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11610 TCAP implicated_via_orthology DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN implicated_via_orthology DOID:0111078 tibial muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1343 TRAF3IP2 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20815 KDM3A implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 implicated_via_orthology DOID:0080041 hypochondroplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4042 FZD4 implicated_via_orthology DOID:0050535 exudative vitreoretinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6909 MATN3 implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9832 RAG2 implicated_via_orthology DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27232 CFAP418 implicated_via_orthology DOID:0111022 cone-rod dystrophy 16 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2472 CSRP3 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17020 IRAK3 implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3009 DPP4 implicated_via_orthology DOID:0080642 Middle East respiratory syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18608 LRRK1 implicated_via_orthology DOID:13533 osteopetrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10484 RYR2 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20908 DZIP1 implicated_via_orthology DOID:988 mitral valve prolapse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15832 BSCL2 implicated_via_orthology DOID:0111136 congenital generalized lipodystrophy type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 implicated_via_orthology DOID:0060900 Parkinson's disease 14 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5175 AGFG1 implicated_via_orthology DOID:0070311 oligoasthenoteratozoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12305 TRIP11 implicated_via_orthology DOID:0080054 achondrogenesis type IA ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7105 MITF implicated_via_orthology DOID:4997 Camurati-Engelmann disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP implicated_via_orthology DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3546 F8 implicated_via_orthology DOID:12134 factor VIII deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3344 ENAM implicated_via_orthology DOID:0110052 amelogenesis imperfecta type 1B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2025 CLCN7 implicated_via_orthology DOID:0110944 autosomal recessive osteopetrosis 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2961 DYNC1H1 implicated_via_orthology DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6853 MAP3K14 implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11596 TBX19 implicated_via_orthology DOID:0080150 adrenocorticotropic hormone deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20692 TPH2 implicated_via_orthology DOID:1595 melancholic depression ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7981 NR4A2 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:289 endometriosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17134 ZNG1A implicated_via_orthology DOID:0080205 CAKUT ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29557 NEXN implicated_via_orthology DOID:0110326 hypertrophic cardiomyopathy 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4845 HCN1 implicated_via_orthology DOID:13884 sick sinus syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10604 SCO2 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20766 TUBA1A implicated_via_orthology DOID:2490 congenital nervous system abnormality ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:236 ADCY5 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT implicated_via_orthology DOID:0050465 Muir-Torre syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21485 TBC1D32 implicated_via_orthology DOID:0050778 Meckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:568 AP3D1 implicated_via_orthology DOID:0060540 Hermansky-Pudlak syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19190 DOCK7 implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5048 HNRNPU implicated_via_orthology DOID:0080418 developmental and epileptic encephalopathy 54 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28303 ODAD3 implicated_via_orthology DOID:0110624 primary ciliary dyskinesia 30 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:327 AGPS implicated_via_orthology DOID:0110853 rhizomelic chondrodysplasia punctata type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29035 PPIP5K2 implicated_via_orthology DOID:0050563 nonsyndromic deafness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 implicated_via_orthology DOID:14179 X-linked agammaglobulinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10577 STMN2 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9201 POMC implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 implicated_via_orthology DOID:9952 acute lymphoblastic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:952 BARD1 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:758 ASS1 implicated_via_orthology DOID:9273 citrullinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:784 ATF2 implicated_via_orthology DOID:11049 meconium aspiration syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3666 FGF10 implicated_via_orthology DOID:10486 intestinal atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2260 COX10 implicated_via_orthology DOID:699 mitochondrial myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6143 ITGA7 implicated_via_orthology DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR implicated_via_orthology DOID:8947 diabetic retinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6040 ILK implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1076 BMPR1A implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3711 FKBP1A implicated_via_orthology DOID:0050476 Barth syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11433 STX1A implicated_via_orthology DOID:150 disease of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12425 TULP3 implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 implicated_via_orthology DOID:0080027 spondyloepimetaphyseal dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7105 MITF implicated_via_orthology DOID:0110948 Waardenburg syndrome type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26383 DAW1 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11824 TINF2 implicated_via_orthology DOID:2729 dyskeratosis congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9004 PITX1 implicated_via_orthology DOID:11836 clubfoot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:43695 URAHP implicated_via_orthology DOID:1920 hyperuricemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8516 OTOG implicated_via_orthology DOID:0110474 autosomal recessive nonsyndromic deafness 18B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6664 LOX implicated_via_orthology DOID:1838 Menkes disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 implicated_via_orthology DOID:9164 achalasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1382 CA8 implicated_via_orthology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18744 DNAI2 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF implicated_via_orthology DOID:0050649 atransferrinemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 implicated_via_orthology DOID:11612 polycystic ovary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4198 GCM2 implicated_via_orthology DOID:11199 hypoparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:445 SETX implicated_via_orthology DOID:0060196 amyotrophic lateral sclerosis type 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30497 KIF7 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18362 IMPG2 implicated_via_orthology DOID:0110371 retinitis pigmentosa 56 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:34 ABCA4 implicated_via_orthology DOID:0111013 cone-rod dystrophy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4422 GNS implicated_via_orthology DOID:12801 mucopolysaccharidosis III ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 implicated_via_orthology DOID:4450 renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11599 TBX21 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 implicated_via_orthology DOID:13543 hyperparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10602 SCNN1G implicated_via_orthology DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS implicated_via_orthology DOID:0060198 amyotrophic lateral sclerosis type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN implicated_via_orthology DOID:0110430 dilated cardiomyopathy 1G ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:554 AP1B1 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6617 LIPA implicated_via_orthology DOID:0080217 lysosomal acid lipase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11776 TGIF1 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9826 RAD54L implicated_via_orthology DOID:0060252 sclerocornea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9093 PLTP implicated_via_orthology DOID:10140 dry eye syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26724 ANKS6 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33983 CFC1B implicated_via_orthology DOID:0060770 dextro-looped transposition of the great arteries ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21050 CDKAL1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21316 ANKRD11 implicated_via_orthology DOID:14780 KBG syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A implicated_via_orthology DOID:0050753 cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:568 AP3D1 implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2408 CRYGA implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8008 NRXN1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET implicated_via_orthology DOID:11836 clubfoot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 implicated_via_orthology DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14255 BRPF1 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6320 KIF3B implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:321 AGL implicated_via_orthology DOID:2748 glycogen storage disease III ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 implicated_via_orthology DOID:2960 photosensitive trichothiodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:492 ANK1 implicated_via_orthology DOID:12365 malaria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18874 LAT implicated_via_orthology DOID:0080356 IgG4-related disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:568 AP3D1 implicated_via_orthology DOID:0060539 Hermansky-Pudlak syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A implicated_via_orthology DOID:9281 phenylketonuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11226 SPG11 implicated_via_orthology DOID:0110764 hereditary spastic paraplegia 11 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5959 ELP1 implicated_via_orthology DOID:0050120 hemophagocytic lymphohistiocytosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 implicated_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 implicated_via_orthology DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9081 PLOD1 implicated_via_orthology DOID:13359 Ehlers-Danlos syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2211 COL6A1 implicated_via_orthology DOID:0050663 Bethlem myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10909 SLC40A1 implicated_via_orthology DOID:0111028 hemochromatosis type 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:0060867 macrocephaly-autism syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1949 CHRD implicated_via_orthology DOID:12583 velocardiofacial syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A implicated_via_orthology DOID:0111099 maturity-onset diabetes of the young type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15517 XYLT2 implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B implicated_via_orthology DOID:0060691 platelet-type bleeding disorder 16 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:638 AQP5 implicated_via_orthology DOID:10140 dry eye syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 implicated_via_orthology DOID:0050868 hepatocellular adenoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33983 CFC1B implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13539 AGTRAP implicated_via_orthology DOID:0060158 acquired metabolic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 implicated_via_orthology DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18006 NISCH implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 implicated_via_orthology DOID:14705 Pfeiffer syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6161 ITGB6 implicated_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C implicated_via_orthology DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17946 NOSIP implicated_via_orthology DOID:4621 holoprosencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 implicated_via_orthology DOID:0080056 achondrogenesis type II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12575 UOX implicated_via_orthology DOID:12387 nephrogenic diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4504 LGR5 implicated_via_orthology DOID:0060604 ankyloglossia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13831 WDR11 implicated_via_orthology DOID:3614 Kallmann syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14357 MMP21 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12299 TRHR implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6610 LIM2 implicated_via_orthology DOID:0110263 cataract 19 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7108 MKKS implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 implicated_via_orthology DOID:9248 Pallister-Hall syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN implicated_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11118 SMN2 implicated_via_orthology DOID:12376 juvenile spinal muscular atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:360 AIRE implicated_via_orthology DOID:12842 Guillain-Barre syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29186 ANKRD26 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 implicated_via_orthology DOID:0060334 transient neonatal diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1857 CENPF implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13398 NSDHL implicated_via_orthology DOID:12305 Bloch-Sulzberger syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10818 SGSH implicated_via_orthology DOID:12801 mucopolysaccharidosis III ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30897 VCPIP1 implicated_via_orthology DOID:3911 progeria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11276 SPTBN2 implicated_via_orthology DOID:0050882 spinocerebellar ataxia type 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG implicated_via_orthology DOID:12449 aplastic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20914 BLOC1S3 implicated_via_orthology DOID:0060546 Hermansky-Pudlak syndrome 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 implicated_via_orthology DOID:1068 juvenile glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 implicated_via_orthology DOID:0110850 xeroderma pigmentosum group B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1833 CEBPA implicated_via_orthology DOID:9119 acute myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2719 DDC implicated_via_orthology DOID:0090123 aromatic L-amino acid decarboxylase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR implicated_via_orthology DOID:0050569 Seckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20869 BMP10 implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:12365 malaria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30666 VHLL implicated_via_orthology DOID:9007 sudden infant death syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21699 CERKL implicated_via_orthology DOID:0110368 retinitis pigmentosa 26 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20145 GPR143 implicated_via_orthology DOID:0050633 ocular albinism 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21244 LEMD2 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3473 ESRRB implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7224 MPV17 implicated_via_orthology DOID:0110033 autosomal recessive Alport syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6218 KCNA1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7999 NRG3 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12814 XPA implicated_via_orthology DOID:0110843 xeroderma pigmentosum group A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6610 LIM2 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9086 PLP1 implicated_via_orthology DOID:0110773 hereditary spastic paraplegia 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN implicated_via_orthology DOID:62 aortic valve disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19349 KIF21A implicated_via_orthology DOID:0080143 congenital fibrosis of the extraocular muscles ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20444 MBD5 implicated_via_orthology DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17582 KAT6B implicated_via_orthology DOID:3490 Noonan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 implicated_via_orthology DOID:13223 uterine fibroid ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17494 GJC2 implicated_via_orthology DOID:0060787 hypomyelinating leukodystrophy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 implicated_via_orthology DOID:0112225 BH4-deficient hyperphenylalaninemia B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9404 PRKCI implicated_via_orthology DOID:0060611 abdominal obesity-metabolic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:583 APC implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3182 PHC1 implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12698 VLDLR implicated_via_orthology DOID:0110014 age related macular degeneration 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22197 AP5Z1 implicated_via_orthology DOID:0110800 hereditary spastic paraplegia 48 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL implicated_via_orthology DOID:14118 familial lipoprotein lipase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20774 TUBB4A implicated_via_orthology DOID:0060798 hypomyelinating leukodystrophy 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9293 PPP1R3C implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5542 IGHMBP2 implicated_via_orthology DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN implicated_via_orthology DOID:1929 supravalvular aortic stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25358 RNF170 implicated_via_orthology DOID:0050951 hereditary ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29434 RC3H1 implicated_via_orthology DOID:0050749 peripheral T-cell lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12580 UPK3A implicated_via_orthology DOID:9620 vesicoureteral reflux ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2411 CRYGD implicated_via_orthology DOID:0110234 cataract 4 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20197 SLC35C1 implicated_via_orthology DOID:0070255 congenital disorder of glycosylation type IIc ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3800 FOXC1 implicated_via_orthology DOID:11211 buphthalmos ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21652 OSTM1 implicated_via_orthology DOID:0110939 autosomal recessive osteopetrosis 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:60 ABCC9 implicated_via_orthology DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM implicated_via_orthology DOID:0060246 MASA syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11270 SPRY2 implicated_via_orthology DOID:0080072 intestinal pseudo-obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10816 SCG5 implicated_via_orthology DOID:3946 pituitary-dependent Cushing's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5163 HPS1 implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 implicated_via_orthology DOID:0060327 omphalocele ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4571 GRIA1 implicated_via_orthology DOID:5418 schizoaffective disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17022 HPS5 implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT implicated_via_orthology DOID:2361 macrocytic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10671 SDCCAG8 implicated_via_orthology DOID:12712 nephronophthisis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9677 PTPRN2 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3584 FANCC implicated_via_orthology DOID:0111087 Fanconi anemia complementation group C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2956 DNASE1 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10910 SLC12A1 implicated_via_orthology DOID:0110142 Bartter disease type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10663 NEMF implicated_via_orthology DOID:440 neuromuscular disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11132 SNAP25 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24434 GLYR1 implicated_via_orthology DOID:0050651 atrioventricular septal defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1573 KRIT1 implicated_via_orthology DOID:0060669 cerebral cavernous malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29326 SLC7A14 implicated_via_orthology DOID:1432 blindness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4226 GDI1 implicated_via_orthology DOID:0050776 non-syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2348 CREBBP implicated_via_orthology DOID:9119 acute myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13273 DUOX2 implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13203 AICDA implicated_via_orthology DOID:0060758 immunodeficiency with hyper-IgM type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A implicated_via_orthology DOID:2746 glycogen storage disease V ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1764 CDH5 implicated_via_orthology DOID:0050535 exudative vitreoretinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6972 MDK implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2987 DOCK1 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11132 SNAP25 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25169 GPRASP2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30935 YY1AP1 implicated_via_orthology DOID:8850 salivary gland cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9118 PMP22 implicated_via_orthology DOID:0050540 Charcot-Marie-Tooth disease type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA implicated_via_orthology DOID:0050454 periventricular nodular heterotopia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 implicated_via_orthology DOID:0050651 atrioventricular septal defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8743 PCSK1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23140 ANGPTL6 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21484 MCM9 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5226 HSF2BP implicated_via_orthology DOID:0112278 primary ovarian insufficiency 19 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS implicated_via_orthology DOID:0060639 permanent neonatal diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8091 OAT implicated_via_orthology DOID:1415 gyrate atrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:428 ALMS1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 implicated_via_orthology DOID:0060193 amyotrophic lateral sclerosis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12703 BEST1 implicated_via_orthology DOID:0050662 bestrophinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25712 PGAP1 implicated_via_orthology DOID:4621 holoprosencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:42000 ARMCX5-GPRASP2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN implicated_via_orthology DOID:0080010 bone structure disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7781 NFE2L1 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA implicated_via_orthology DOID:2217 Bernard-Soulier syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17795 SAV1 implicated_via_orthology DOID:5353 colonic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1962 CHRNB2 implicated_via_orthology DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11743 TFAP2B implicated_via_orthology DOID:13832 patent ductus arteriosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:34383 PCARE implicated_via_orthology DOID:0110364 retinitis pigmentosa 54 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 implicated_via_orthology DOID:0050770 polycystic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 implicated_via_orthology DOID:0050790 fibular hypoplasia and complex brachydactyly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7941 NPPC implicated_via_orthology DOID:2256 osteochondrodysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30171 HSPB8 implicated_via_orthology DOID:0111208 obsolete distal hereditary motor neuronopathy type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8845 PER1 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4921 HIVEP2 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29253 CC2D2A implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23516 BORCS7 implicated_via_orthology DOID:2476 hereditary spastic paraplegia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11102 SMARCAL1 implicated_via_orthology DOID:0060490 Schimke immuno-osseous dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9879 RASGRP2 implicated_via_orthology DOID:0110912 leukocyte adhesion deficiency 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8747 PCSK5 implicated_via_orthology DOID:14679 VACTERL association ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16067 MYOCD implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14934 SIRT6 implicated_via_orthology DOID:3911 progeria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1968 LYST implicated_via_orthology DOID:13641 exfoliation syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18292 CFC1 implicated_via_orthology DOID:0060770 dextro-looped transposition of the great arteries ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24272 SIDT2 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 implicated_via_orthology DOID:12638 hypertrophic pyloric stenosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15492 ANKH implicated_via_orthology DOID:0080033 craniometaphyseal dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16075 RAB33B implicated_via_orthology DOID:0081271 Smith-McCort dysplasia 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:636 AQP3 implicated_via_orthology DOID:12387 nephrogenic diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8079 FRMD7 implicated_via_orthology DOID:0111790 congenital nystagmus 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:329 AGRN implicated_via_orthology DOID:0110657 congenital myasthenic syndrome 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3225 EFNA5 implicated_via_orthology DOID:0060668 anencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 implicated_via_orthology DOID:14219 renal tubular acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 implicated_via_orthology DOID:0050458 juvenile myelomonocytic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25973 GON4L implicated_via_orthology DOID:8850 salivary gland cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12735 WASL implicated_via_orthology DOID:3310 atopic dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27310 FLCN implicated_via_orthology DOID:0050387 nonpapillary renal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 implicated_via_orthology DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26002 CASZ1 implicated_via_orthology DOID:0060410 chromosome 1p36 deletion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20309 LRCH1 implicated_via_orthology DOID:2377 multiple sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 implicated_via_orthology DOID:3310 atopic dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25531 FAR2 implicated_via_orthology DOID:987 alopecia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6501 LAMP2 implicated_via_orthology DOID:0050437 Danon disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18475 ZDHHC9 implicated_via_orthology DOID:0060824 syndromic X-linked intellectual disability Raymond type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 implicated_via_orthology DOID:0060703 Muenke Syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2472 CSRP3 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:714 ARSB implicated_via_orthology DOID:12800 mucopolysaccharidosis VI ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4047 FZD9 implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7897 NPC1 implicated_via_orthology DOID:0070113 Niemann-Pick disease type C1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7680 NDST1 implicated_via_orthology DOID:12716 newborn respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3694 FGG implicated_via_orthology DOID:2236 congenital afibrinogenemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1962 CHRNB2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11799 THRB implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11577 TAFAZZIN implicated_via_orthology DOID:0050476 Barth syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6831 MANBA implicated_via_orthology DOID:3633 beta-mannosidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2217 COL9A1 implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31978 ZNG1F implicated_via_orthology DOID:0080205 CAKUT ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26485 CFAP57 implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3687 FGF9 implicated_via_orthology DOID:0050794 multiple synostoses syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11495 SYN2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9404 PRKCI implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2499 CTF1 implicated_via_orthology DOID:0060611 abdominal obesity-metabolic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3342 EN1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20763 ANKFY1 implicated_via_orthology DOID:0050946 Charlevoix-Saguenay spastic ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18340 WDR19 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A implicated_via_orthology DOID:0110838 Usher syndrome type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6648 LMOD2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7450 MTMR2 implicated_via_orthology DOID:0110191 Charcot-Marie-Tooth disease type 4B1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL implicated_via_orthology DOID:0060474 familial erythrocytosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG implicated_via_orthology DOID:0050440 familial partial lipodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6774 SMAD9 implicated_via_orthology DOID:14557 primary pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17609 RASSF5 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26013 DNAAF5 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3261 EIF2B5 implicated_via_orthology DOID:0060868 leukoencephalopathy with vanishing white matter ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30078 REEP6 implicated_via_orthology DOID:0080350 retinitis pigmentosa 77 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19125 FGD4 implicated_via_orthology DOID:0110192 Charcot-Marie-Tooth disease type 4H ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13398 NSDHL implicated_via_orthology DOID:0060292 X-linked chondrodysplasia punctata 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23614 ST6GALNAC1 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21684 ZNF462 implicated_via_orthology DOID:14320 generalized anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9234 MED1 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG implicated_via_orthology DOID:12365 malaria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1460 CAMK2A implicated_via_orthology DOID:3312 bipolar disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20772 TUBB3 implicated_via_orthology DOID:0080143 congenital fibrosis of the extraocular muscles ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:678 ARHGDIA implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4084 GABRD implicated_via_orthology DOID:9478 postpartum depression ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29013 CLEC16A implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2343 CRB1 implicated_via_orthology DOID:0110079 Leber congenital amaurosis 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30666 VHLL implicated_via_orthology DOID:0060474 familial erythrocytosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28912 WDR45 implicated_via_orthology DOID:0110739 neurodegeneration with brain iron accumulation 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26267 POMK implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20423 SPATA7 implicated_via_orthology DOID:0110331 Leber congenital amaurosis 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23216 ZNF469 implicated_via_orthology DOID:14775 brittle cornea syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2303 CPE implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2909 DLL3 implicated_via_orthology DOID:0050568 spondylocostal dysostosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6408 MAFB implicated_via_orthology DOID:12557 Duane retraction syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12559 UMOD implicated_via_orthology DOID:0060062 familial juvenile hyperuricemic nephropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23287 ETHE1 implicated_via_orthology DOID:0060640 ethylmalonic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29077 IFT140 implicated_via_orthology DOID:0110085 asphyxiating thoracic dystrophy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3054 DSPP implicated_via_orthology DOID:3388 periodontal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2440 CSH1 implicated_via_orthology DOID:0060872 isolated growth hormone deficiency type II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12712 VPS33B implicated_via_orthology DOID:0050763 ARC syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2379 CRTAP implicated_via_orthology DOID:0110337 osteogenesis imperfecta type 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2180 COCH implicated_via_orthology DOID:0110593 autosomal dominant nonsyndromic deafness 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12423 TULP1 implicated_via_orthology DOID:0110381 retinitis pigmentosa 14 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19440 SBDS implicated_via_orthology DOID:0060479 Shwachman-Diamond syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9069 PLEC implicated_via_orthology DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6769 SMAD3 implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2770 DES implicated_via_orthology DOID:0110431 dilated cardiomyopathy 1I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11891 CLEC3B implicated_via_orthology DOID:13300 Scheuermann's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3178 EDN3 implicated_via_orthology DOID:0110954 Waardenburg syndrome type 4B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27405 NPNT implicated_via_orthology DOID:0080200 bilateral renal aplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11895 TNFAIP2 implicated_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 implicated_via_orthology DOID:2999 granulosa cell tumor ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 implicated_via_orthology DOID:0060564 spinal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3233 MEGF8 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1759 CDH2 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 implicated_via_orthology DOID:0050524 maturity-onset diabetes of the young ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17258 AGTPBP1 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17927 SENP1 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7462 MT-ND6 implicated_via_orthology DOID:3650 lactic acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12269 TREX1 implicated_via_orthology DOID:0050169 cutaneous lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28420 KXD1 implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10360 RPL5 implicated_via_orthology DOID:0111879 Diamond-Blackfan anemia 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12461 UBAP1 implicated_via_orthology DOID:0112341 hereditary spastic paraplegia 80 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16438 SLC4A11 implicated_via_orthology DOID:0060649 congenital hereditary endothelial dystrophy of cornea ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3822 FOXO3B implicated_via_orthology DOID:5117 dermoid cyst of ovary ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG implicated_via_orthology DOID:0080171 esophageal atresia/tracheoesophageal fistula ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2987 DOCK1 implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9115 PMM2 implicated_via_orthology DOID:0050570 congenital disorder of glycosylation type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2027 CLCNKB implicated_via_orthology DOID:445 Bartter disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4262 GH2 implicated_via_orthology DOID:0060872 isolated growth hormone deficiency type II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18514 SPART implicated_via_orthology DOID:0050886 Troyer syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10768 SF3B1 implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2201 COL3A1 implicated_via_orthology DOID:418 systemic scleroderma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH implicated_via_orthology DOID:0110017 age related macular degeneration 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4659 GTF2I implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3595 FAT1 implicated_via_orthology DOID:11727 facioscapulohumeral muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7525 MUSK implicated_via_orthology DOID:0110670 congenital myasthenic syndrome 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK implicated_via_orthology DOID:0070216 familial hyperinsulinemic hypoglycemia 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11762 TFR2 implicated_via_orthology DOID:0111030 hemochromatosis type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 implicated_via_orthology DOID:0050977 spinocerebellar ataxia type 28 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11133 SNAP29 implicated_via_orthology DOID:0060337 CEDNIK syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11344 ST14 implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:48925 APELA implicated_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9834 RAI1 implicated_via_orthology DOID:0060768 Smith-Magenis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26383 DAW1 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4839 HCFC1 implicated_via_orthology DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17082 MLC1 implicated_via_orthology DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3381 EPB42 implicated_via_orthology DOID:0110916 hereditary spherocytosis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17870 INVS implicated_via_orthology DOID:0111113 nephronophthisis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP implicated_via_orthology DOID:0111032 hemochromatosis type 2B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13771 SOST implicated_via_orthology DOID:0060756 sclerosteosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9346 PRDM1 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:970 BBS5 implicated_via_orthology DOID:0110127 Bardet-Biedl syndrome 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2973 DNM1L implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29242 SH3PXD2B implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7203 CD200 implicated_via_orthology DOID:417 autoimmune disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A implicated_via_orthology DOID:1062 Fanconi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS implicated_via_orthology DOID:0050524 maturity-onset diabetes of the young ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16499 RAB39B implicated_via_orthology DOID:0060309 syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10663 NEMF implicated_via_orthology DOID:870 neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11006 SLC2A2 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11278 SPTLC2 implicated_via_orthology DOID:8893 psoriasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18292 CFC1 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2954 DNAI1 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26527 HGSNAT implicated_via_orthology DOID:12801 mucopolysaccharidosis III ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 implicated_via_orthology DOID:7442 monoclonal gammopathy of uncertain significance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5358 IRF8 implicated_via_orthology DOID:0060761 familial chronic myelocytic leukemia-like syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2687 BRINP1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2077 CLN6 implicated_via_orthology DOID:0110729 neuronal ceroid lipofuscinosis 6A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3395 EPHB4 implicated_via_orthology DOID:2975 cystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11237 SPG7 implicated_via_orthology DOID:0110816 hereditary spastic paraplegia 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11164 SNRPN implicated_via_orthology DOID:1932 Angelman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15631 TLR7 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:866 ATP6V0A4 implicated_via_orthology DOID:14219 renal tubular acidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2950 DNAH5 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28880 MAGT1 implicated_via_orthology DOID:612 primary immunodeficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20080 USP45 implicated_via_orthology DOID:0081169 Leber congenital amaurosis 19 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2434 CSF2 implicated_via_orthology DOID:12120 pulmonary alveolar proteinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9472 LGMN implicated_via_orthology DOID:75 lymphatic system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9766 RAB27A implicated_via_orthology DOID:0060539 Hermansky-Pudlak syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10023 RIT1 implicated_via_orthology DOID:0060586 Noonan syndrome 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4379 GNA11 implicated_via_orthology DOID:0090108 autosomal dominant hypocalcemia 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:4928 intrahepatic cholangiocarcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29996 GADD45GIP1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20922 SLX1A implicated_via_orthology DOID:0090066 Fanconi-like syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21493 DNAAF4 implicated_via_orthology DOID:0110615 primary ciliary dyskinesia 25 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6766 MADD implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11059 SLC7A11 implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15917 PLCB1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14287 NLGN4X implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1092 FOXL2 implicated_via_orthology DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20603 DHDDS implicated_via_orthology DOID:0110352 retinitis pigmentosa 59 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17104 CDON implicated_via_orthology DOID:0110877 holoprosencephaly 11 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3720 FKBP4 implicated_via_orthology DOID:4674 androgen insensitivity syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11631 TCF20 implicated_via_orthology DOID:0080354 Phelan-McDermid syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19034 MAST1 implicated_via_orthology DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16378 OTOA implicated_via_orthology DOID:0110480 autosomal recessive nonsyndromic deafness 22 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4288 GJB6 implicated_via_orthology DOID:14693 Clouston syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 implicated_via_orthology DOID:707 B-cell lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24051 AEBP2 implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9498 PSAP implicated_via_orthology DOID:10581 metachromatic leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA implicated_via_orthology DOID:0111095 Fanconi anemia complementation group A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10933 SLC17A5 implicated_via_orthology DOID:3211 lysosomal storage disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4699 GYG1 implicated_via_orthology DOID:0050579 glycogen storage disease XV ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2436 CSF2RB implicated_via_orthology DOID:12120 pulmonary alveolar proteinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8840 PEPD implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3816 FOXJ1 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6291 KCNN2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11429 STX11 implicated_via_orthology DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26133 CWH43 implicated_via_orthology DOID:1572 normal pressure hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2082 CLOCK implicated_via_orthology DOID:3312 bipolar disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL implicated_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6309 KERA implicated_via_orthology DOID:0060287 cornea plana ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 implicated_via_orthology DOID:114 heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA implicated_via_orthology DOID:10763 hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7095 MID1 implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1076 BMPR1A implicated_via_orthology DOID:384 Wolff-Parkinson-White syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10577 STMN2 implicated_via_orthology DOID:2477 motor peripheral neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5136 HOXD13 implicated_via_orthology DOID:0060242 synpolydactyly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3334 EMP2 implicated_via_orthology DOID:3891 placental insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10600 SCNN1B implicated_via_orthology DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29170 FAN1 implicated_via_orthology DOID:0060911 karyomegalic interstitial nephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28991 RUBCN implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26383 DAW1 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27962 STING1 implicated_via_orthology DOID:0111457 STING-associated vasculopathy with onset in infancy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27344 TMEM218 implicated_via_orthology DOID:0050576 Senior-Loken syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX implicated_via_orthology DOID:0060309 syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT implicated_via_orthology DOID:1561 cognitive disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4837 HCCS implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3260 EIF2B4 implicated_via_orthology DOID:0060868 leukoencephalopathy with vanishing white matter ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12816 XPC implicated_via_orthology DOID:0110844 xeroderma pigmentosum group C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3118 E2F4 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13449 SLITRK2 implicated_via_orthology DOID:0050776 non-syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12741 EIF4H implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4394 GNAT2 implicated_via_orthology DOID:13911 achromatopsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 implicated_via_orthology DOID:12583 velocardiofacial syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2171 CNTN1 implicated_via_orthology DOID:0080101 Compton-North congenital myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA implicated_via_orthology DOID:11476 osteoporosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11241 SPI1 implicated_via_orthology DOID:9119 acute myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1304 MRAP implicated_via_orthology DOID:9553 adrenal gland disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10994 SLC26A2 implicated_via_orthology DOID:14687 diastrophic dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24682 FLVCR1 implicated_via_orthology DOID:1339 Diamond-Blackfan anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6485 LAMA5 implicated_via_orthology DOID:2975 cystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 implicated_via_orthology DOID:0110340 osteogenesis imperfecta type 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6853 MAP3K14 implicated_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16999 CLP1 implicated_via_orthology DOID:0060279 pontocerebellar hypoplasia type 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2459 CSNK2A2 implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9317 PPP3R1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9330 PQBP1 implicated_via_orthology DOID:0060179 Renpenning syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:10871 age related macular degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20751 WDFY3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21307 DSG4 implicated_via_orthology DOID:0110703 hypotrichosis 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8004 NRP1 implicated_via_orthology DOID:1727 retinal vein occlusion ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10603 SCO1 implicated_via_orthology DOID:3762 cytochrome-c oxidase deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7105 MITF implicated_via_orthology DOID:13533 osteopetrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16266 SLC19A3 implicated_via_orthology DOID:0050659 biotin-responsive basal ganglia disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25132 TIMD4 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18316 ZNF366 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8009 NRXN2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30492 DNAAF3 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1240 SUCO implicated_via_orthology DOID:0110344 osteogenesis imperfecta type 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 implicated_via_orthology DOID:0050787 juvenile polyposis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 implicated_via_orthology DOID:0080599 Coronavirus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13841 ADGRG6 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10024 RLBP1 implicated_via_orthology DOID:0050683 Bothnia retinal dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14240 SMPD3 implicated_via_orthology DOID:9406 hypopituitarism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2150 CNGA3 implicated_via_orthology DOID:0110007 achromatopsia 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18525 CYS1 implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29990 NUPR1 implicated_via_orthology DOID:0050457 Sertoli cell-only syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8918 PHEX implicated_via_orthology DOID:0050445 X-linked dominant hypophosphatemic rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK implicated_via_orthology DOID:13317 hyperinsulinemic hypoglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1078 BMPR2 implicated_via_orthology DOID:14557 primary pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11313 RO60 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:554 AP1B1 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17328 DTNBP1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2153 CNGB3 implicated_via_orthology DOID:0110008 achromatopsia 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1917 CHD2 implicated_via_orthology DOID:0050834 CHARGE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN implicated_via_orthology DOID:12705 Friedreich ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30079 TMPRSS9 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 implicated_via_orthology DOID:5394 prolactinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:462 AMELY implicated_via_orthology DOID:0110058 amelogenesis imperfecta type 1E ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO implicated_via_orthology DOID:0110372 retinitis pigmentosa 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3585 FANCD2 implicated_via_orthology DOID:0111083 Fanconi anemia complementation group D2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10671 SDCCAG8 implicated_via_orthology DOID:0110138 Bardet-Biedl syndrome 16 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4313 GLDC implicated_via_orthology DOID:9268 glycine encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 implicated_via_orthology DOID:0110919 hereditary spherocytosis type 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3712 FKBP1B implicated_via_orthology DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6601 LIG4 implicated_via_orthology DOID:0060021 DNA ligase IV deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B implicated_via_orthology DOID:12365 malaria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9260 PPIL1 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8023 NTF3 implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6408 MAFB implicated_via_orthology DOID:0111534 multicentric carpotarsal osteolysis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20893 BCOR implicated_via_orthology DOID:0111809 syndromic microphthalmia 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7652 NBN implicated_via_orthology DOID:7400 Nijmegen breakage syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2073 TPP1 implicated_via_orthology DOID:0110726 neuronal ceroid lipofuscinosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29670 GNPTAB implicated_via_orthology DOID:0080070 mucolipidosis II alpha/beta ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:360 AIRE implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3513 EXT2 implicated_via_orthology DOID:206 hereditary multiple exostoses ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8591 PAK2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4172 GATA3 implicated_via_orthology DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7905 NPHP1 implicated_via_orthology DOID:0111112 nephronophthisis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1529 CAV3 implicated_via_orthology DOID:0060255 rippling muscle disease 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10294 RPE65 implicated_via_orthology DOID:0110016 Leber congenital amaurosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:492 ANK1 implicated_via_orthology DOID:0110916 hereditary spherocytosis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23338 ACBD5 implicated_via_orthology DOID:906 peroxisomal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29958 SDR9C7 implicated_via_orthology DOID:0080257 autosomal recessive congenital ichthyosis 13 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4115 GALC implicated_via_orthology DOID:10587 Krabbe disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET implicated_via_orthology DOID:11119 Gilles de la Tourette syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12036 TRAF6 implicated_via_orthology DOID:14793 hypohidrotic ectodermal dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:644 AR implicated_via_orthology DOID:4674 androgen insensitivity syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 implicated_via_orthology DOID:0050557 congenital muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7897 NPC1 implicated_via_orthology DOID:14504 Niemann-Pick disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12784 WNT5A implicated_via_orthology DOID:0060254 Robinow syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9411 PRKCSH implicated_via_orthology DOID:0050770 polycystic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2865 DHH implicated_via_orthology DOID:14448 46,XY sex reversal ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4087 GABRG2 implicated_via_orthology DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6522 LCAT implicated_via_orthology DOID:1391 Norum disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26299 SH3RF2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14637 ABCA12 implicated_via_orthology DOID:0060713 autosomal recessive congenital ichthyosis 4B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4466 GPR12 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33983 CFC1B implicated_via_orthology DOID:6406 double outlet right ventricle ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7225 MPZ implicated_via_orthology DOID:0090111 PCWH syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28927 KRT71 implicated_via_orthology DOID:0110710 hypotrichosis 13 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3377 EPB41 implicated_via_orthology DOID:2373 hereditary elliptocytosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4415 GNMT implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9802 RAC2 implicated_via_orthology DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18708 GRIP1 implicated_via_orthology DOID:0090001 Fraser syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6345 KLF1 implicated_via_orthology DOID:12241 beta thalassemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A implicated_via_orthology DOID:0110826 Usher syndrome type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8002 NRL implicated_via_orthology DOID:0090059 enhanced S-cone syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:566 AP3B1 implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG implicated_via_orthology DOID:1270 hereditary hemorrhagic telangiectasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET implicated_via_orthology DOID:10016 multiple endocrine neoplasia type 2B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16361 WHRN implicated_via_orthology DOID:0110490 autosomal recessive nonsyndromic deafness 31 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 implicated_via_orthology DOID:9997 peripartum cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9255 PPIB implicated_via_orthology DOID:0110349 osteogenesis imperfecta type 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4083 GABRB3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19408 LRRTM1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 implicated_via_orthology DOID:0111253 neurofibromatosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18838 PPP1R13L implicated_via_orthology DOID:0050737 autosomal recessive disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 implicated_via_orthology DOID:14323 Marfan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15761 OSBPL2 implicated_via_orthology DOID:0110588 autosomal dominant nonsyndromic deafness 67 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10541 SATB1 implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14398 SRR implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10432 RPS6KA3 implicated_via_orthology DOID:3783 Coffin-Lowry syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4389 GNAO1 implicated_via_orthology DOID:0080450 developmental and epileptic encephalopathy 17 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18270 HHAT implicated_via_orthology DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15844 HPS4 implicated_via_orthology DOID:0060542 Hermansky-Pudlak syndrome 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 implicated_via_orthology DOID:0110339 osteogenesis imperfecta type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10477 RXRA implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 implicated_via_orthology DOID:0110214 cleft soft palate ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9863 RAPSN implicated_via_orthology DOID:0110675 congenital myasthenic syndrome 11 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1859 CEP250 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:61 ABCD1 implicated_via_orthology DOID:10588 adrenoleukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17468 PDLIM5 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14886 DNAJB4 implicated_via_orthology DOID:11720 distal myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32522 NCF1B implicated_via_orthology DOID:3265 chronic granulomatous disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 implicated_via_orthology DOID:0110970 brachydactyly type C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR implicated_via_orthology DOID:0060700 familial hypocalciuric hypercalcemia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33983 CFC1B implicated_via_orthology DOID:0060856 right atrial isomerism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12014 TPMT implicated_via_orthology DOID:0080172 thiopurine S-methyltransferase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14544 WNK4 implicated_via_orthology DOID:4479 pseudohypoaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9666 PTPRC implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6735 LYN implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11164 SNRPN implicated_via_orthology DOID:11983 Prader-Willi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 implicated_via_orthology DOID:0110965 brachydactyly type A2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17272 CENPJ implicated_via_orthology DOID:0050569 Seckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7608 MYO9A implicated_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A implicated_via_orthology DOID:0111196 X-linked distal spinal muscular atrophy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 implicated_via_orthology DOID:9169 Wiskott-Aldrich syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8967 PIGN implicated_via_orthology DOID:4621 holoprosencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23845 SLX4 implicated_via_orthology DOID:0090066 Fanconi-like syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA implicated_via_orthology DOID:5812 MHC class II deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR implicated_via_orthology DOID:0050632 oculocutaneous albinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11132 SNAP25 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS implicated_via_orthology DOID:0080053 Albright's hereditary osteodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 implicated_via_orthology DOID:2975 cystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:779 ATCAY implicated_via_orthology DOID:0060694 Cayman type cerebellar ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16808 UBR1 implicated_via_orthology DOID:14694 Johanson-Blizzard syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:461 AMELX implicated_via_orthology DOID:0110058 amelogenesis imperfecta type 1E ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2851 DGKD implicated_via_orthology DOID:0050561 Lennox-Gastaut syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1122 BTD implicated_via_orthology DOID:856 biotinidase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14289 NLGN3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17728 PMFBP1 implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23399 FREM1 implicated_via_orthology DOID:0090001 Fraser syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK implicated_via_orthology DOID:0111100 maturity-onset diabetes of the young type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7193 MOCS2 implicated_via_orthology DOID:0111163 molybdenum cofactor deficiency type B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18413 ZDHHC13 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4740 MACROH2A1 implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11272 SPTA1 implicated_via_orthology DOID:0110916 hereditary spherocytosis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7883 NOTCH3 implicated_via_orthology DOID:0111035 CADASIL 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6255 KCNJ1 implicated_via_orthology DOID:0110143 Bartter disease type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3437 ERCC5 implicated_via_orthology DOID:0110849 xeroderma pigmentosum group G ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18412 ZDHHC17 implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18448 NEIL1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13299 LGR4 implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20635 PSME4 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29805 NFKBIZ implicated_via_orthology DOID:0050426 Stevens-Johnson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9413 PRKDC implicated_via_orthology DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29168 RPGRIP1L implicated_via_orthology DOID:0050778 Meckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14240 SMPD3 implicated_via_orthology DOID:0110339 osteogenesis imperfecta type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25033 LRTOMT implicated_via_orthology DOID:0110515 autosomal recessive nonsyndromic deafness 63 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5273 HSPG2 implicated_via_orthology DOID:0060770 dextro-looped transposition of the great arteries ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11094 SNAI2 implicated_via_orthology DOID:9258 Waardenburg syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10542 SBF1 implicated_via_orthology DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29935 SPATA16 implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13387 NEK8 implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33914 MINAR2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6912 MATR3 implicated_via_orthology DOID:0060212 amyotrophic lateral sclerosis type 21 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2698 DBT implicated_via_orthology DOID:9269 maple syrup urine disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 implicated_via_orthology DOID:0060590 XFE progeroid syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6708 LSS implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A implicated_via_orthology DOID:0111074 progressive familial heart block type IA ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6345 KLF1 implicated_via_orthology DOID:12971 hereditary spherocytosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12597 USH1C implicated_via_orthology DOID:0110473 autosomal recessive nonsyndromic deafness 18A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7983 NR5A1 implicated_via_orthology DOID:0090070 hypogonadotropic hypogonadism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6617 LIPA implicated_via_orthology DOID:14497 Wolman disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2151 CNGB1 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16700 ZFPM2 implicated_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23537 DHTKD1 implicated_via_orthology DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18292 CFC1 implicated_via_orthology DOID:6406 double outlet right ventricle ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:583 APC implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 implicated_via_orthology DOID:12365 malaria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10854 SHOX2 implicated_via_orthology DOID:0060847 Leri-Weill dyschondrosteosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 implicated_via_orthology DOID:0110977 brachydactyly type A1C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2518 CTNS implicated_via_orthology DOID:1064 cystinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12843 YME1L1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7944 NPR2 implicated_via_orthology DOID:4480 achondroplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23419 KIFBP implicated_via_orthology DOID:0060481 Goldberg-Shprintzen syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1090 DST implicated_via_orthology DOID:0050548 hereditary sensory neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17992 TRPM3 implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 implicated_via_orthology DOID:0050902 medulloblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL implicated_via_orthology DOID:14175 von Hippel-Lindau disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27709 CCDC66 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 implicated_via_orthology DOID:8534 gastroesophageal reflux disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6502 RPSA implicated_via_orthology DOID:1339 Diamond-Blackfan anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD implicated_via_orthology DOID:13628 favism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:318 AGA implicated_via_orthology DOID:0050461 aspartylglucosaminuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10301 RPL11 implicated_via_orthology DOID:0111878 Diamond-Blackfan anemia 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 implicated_via_orthology DOID:0050736 autosomal dominant disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 implicated_via_orthology DOID:10017 multiple endocrine neoplasia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7711 NDUFS4 implicated_via_orthology DOID:0060536 mitochondrial complex I deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1840 CECR2 implicated_via_orthology DOID:0060668 anencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 implicated_via_orthology DOID:0060673 Peters anomaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11926 TNFSF11 implicated_via_orthology DOID:0110943 autosomal recessive osteopetrosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF implicated_via_orthology DOID:3969 thyroid gland papillary carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 implicated_via_orthology DOID:0060578 Noonan syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 implicated_via_orthology DOID:13481 thanatophoric dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR implicated_via_orthology DOID:1485 cystic fibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23045 ARMC2 implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15472 ALDH1A2 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10664 CWC27 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26406 SCLT1 implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26526 AK8 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18145 PHF6 implicated_via_orthology DOID:0050681 Borjeson-Forssman-Lehmann syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB implicated_via_orthology DOID:0111061 familial hypobetalipoproteinemia 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP implicated_via_orthology DOID:0060201 amyotrophic lateral sclerosis type 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9181 POLH implicated_via_orthology DOID:0110847 xeroderma pigmentosum variant type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29068 KATNIP implicated_via_orthology DOID:0110995 Joubert syndrome 26 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7132 KMT2A implicated_via_orthology DOID:9952 acute lymphoblastic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7853 NME5 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3097 DYSF implicated_via_orthology DOID:11720 distal myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS implicated_via_orthology DOID:0050469 Costello syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16725 DNAAF11 implicated_via_orthology DOID:0110608 primary ciliary dyskinesia 19 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20297 SLITRK1 implicated_via_orthology DOID:11119 Gilles de la Tourette syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2903 DLG4 implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4243 GFRA1 implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23953 BCORP1 implicated_via_orthology DOID:0111809 syndromic microphthalmia 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2082 CLOCK implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:707 ARPC4 implicated_via_orthology DOID:8893 psoriasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:854 ATP6V1B2 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1966 CHRNE implicated_via_orthology DOID:0110679 congenital myasthenic syndrome 4C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9832 RAG2 implicated_via_orthology DOID:0060010 Omenn syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26684 CFAP43 implicated_via_orthology DOID:1572 normal pressure hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10560 ATXN7 implicated_via_orthology DOID:0050958 spinocerebellar ataxia type 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13733 CDH23 implicated_via_orthology DOID:0110831 Usher syndrome type 1D ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5208 HSD11B1 implicated_via_orthology DOID:0090140 cortisone reductase deficiency 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9325 PPT1 implicated_via_orthology DOID:0110721 neuronal ceroid lipofuscinosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2974 DNM2 implicated_via_orthology DOID:11252 microcytic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10807 SGCD implicated_via_orthology DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A implicated_via_orthology DOID:0080422 Dravet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15626 FCGR2C implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9118 PMP22 implicated_via_orthology DOID:0110148 Charcot-Marie-Tooth disease type 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP implicated_via_orthology DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4440 GP1BB implicated_via_orthology DOID:2217 Bernard-Soulier syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24245 DRC1 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10809 SGCG implicated_via_orthology DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25155 HOGA1 implicated_via_orthology DOID:2977 primary hyperoxaluria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26730 C1orf127 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:894 AVP implicated_via_orthology DOID:12388 neurohypophyseal diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30386 SCAMP5 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6518 LBR implicated_via_orthology DOID:9631 Pelger-Huet anomaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15456 MBTPS1 implicated_via_orthology DOID:0060250 idiopathic scoliosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17877 NMNAT1 implicated_via_orthology DOID:0110005 Leber congenital amaurosis 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 implicated_via_orthology DOID:0050425 restless legs syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7908 NPHS1 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29805 NFKBIZ implicated_via_orthology DOID:3310 atopic dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29242 SH3PXD2B implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17945 PRLH implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2210 COL5A2 implicated_via_orthology DOID:14720 Ehlers-Danlos syndrome classic type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 implicated_via_orthology DOID:0110475 autosomal recessive nonsyndromic deafness 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH implicated_via_orthology DOID:0090145 dopamine beta-hydroxylase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23041 PDSS2 implicated_via_orthology DOID:0050730 coenzyme Q10 deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 implicated_via_orthology DOID:2340 craniosynostosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5157 HPRT1 implicated_via_orthology DOID:1919 Lesch-Nyhan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3811 FOXG1 implicated_via_orthology DOID:1206 Rett syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 implicated_via_orthology DOID:0090114 Sorsby's fundus dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25415 PPM1K implicated_via_orthology DOID:9269 maple syrup urine disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 implicated_via_orthology DOID:1123 spondyloarthropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6716 LTBP3 implicated_via_orthology DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27337 ANO5 implicated_via_orthology DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29326 SLC7A14 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30832 TRAPPC9 implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 implicated_via_orthology DOID:12387 nephrogenic diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2079 CLN8 implicated_via_orthology DOID:0110723 neuronal ceroid lipofuscinosis 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 implicated_via_orthology DOID:0080599 Coronavirus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT implicated_via_orthology DOID:9253 gastrointestinal stromal tumor ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8082 NYX implicated_via_orthology DOID:0110870 congenital stationary night blindness 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11009 SLC2A4 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2472 CSRP3 implicated_via_orthology DOID:0110318 hypertrophic cardiomyopathy 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11389 STK11 implicated_via_orthology DOID:3852 Peutz-Jeghers syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26513 NSMCE2 implicated_via_orthology DOID:2717 Bloom syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18862 KCNH6 implicated_via_orthology DOID:4194 glucose metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29381 LZTS2 implicated_via_orthology DOID:18 urinary system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6145 ITGA9 implicated_via_orthology DOID:0060646 congenital chylothorax ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP implicated_via_orthology DOID:9884 muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18561 BLOC1S5 implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4576 GRID2 implicated_via_orthology DOID:0080042 autosomal recessive spinocerebellar ataxia 18 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET implicated_via_orthology DOID:11714 gestational diabetes ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10611 CCL13 implicated_via_orthology DOID:10871 age related macular degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7121 MKS1 implicated_via_orthology DOID:0050778 Meckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12340 TRPS1 implicated_via_orthology DOID:14743 trichorhinophalangeal syndrome type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2538 CTSV implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:800 ATP1A2 implicated_via_orthology DOID:0111182 familial hemiplegic migraine 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:966 BBS1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26276 CAMKMT implicated_via_orthology DOID:0060858 hypotonia-cystinuria syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2363 CRKL implicated_via_orthology DOID:12583 velocardiofacial syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13575 BRD4 implicated_via_orthology DOID:12679 nephrocalcinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18652 VPS54 implicated_via_orthology DOID:0060193 amyotrophic lateral sclerosis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1987 CITED2 implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9388 PRKAR1A implicated_via_orthology DOID:14669 acrodysostosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21168 RHOT1 implicated_via_orthology DOID:231 motor neuron disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14258 CD2AP implicated_via_orthology DOID:783 end stage renal disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15480 DIAPH3 implicated_via_orthology DOID:1338 congenital dyserythropoietic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4189 GCDH implicated_via_orthology DOID:0111254 glutaric acidemia I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18838 PPP1R13L implicated_via_orthology DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10969 SLC22A5 implicated_via_orthology DOID:14365 systemic primary carnitine deficiency disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 implicated_via_orthology DOID:1920 hyperuricemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13818 SLC12A5 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1971 CHST3 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE implicated_via_orthology DOID:0111029 hemochromatosis type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5440 IFNGR2 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 implicated_via_orthology DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9260 PPIL1 implicated_via_orthology DOID:0112325 pontocerebellar hypoplasia type 14 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33630 PATL2 implicated_via_orthology DOID:1100 ovarian disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 implicated_via_orthology DOID:0060291 oculodentodigital dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7668 NCOA1 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20264 LRRC10 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11943 TNNC1 implicated_via_orthology DOID:0110319 hypertrophic cardiomyopathy 13 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 implicated_via_orthology DOID:0060671 cerebral cavernous malformation 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9317 PPP3R1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 implicated_via_orthology DOID:3764 Denys-Drash syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9491 PRSS8 implicated_via_orthology DOID:0060713 autosomal recessive congenital ichthyosis 4B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23151 FERMT3 implicated_via_orthology DOID:0110912 leukocyte adhesion deficiency 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11117 SMN1 implicated_via_orthology DOID:13137 Werdnig-Hoffmann disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11359 STAR implicated_via_orthology DOID:0050811 congenital adrenal hyperplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3049 DSG2 implicated_via_orthology DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A implicated_via_orthology DOID:12365 malaria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30497 KIF7 implicated_via_orthology DOID:0050779 hydrolethalus syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17877 NMNAT1 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 implicated_via_orthology DOID:2975 cystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 implicated_via_orthology DOID:1949 cholecystitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7603 MYO5B implicated_via_orthology DOID:0060775 microvillus inclusion disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2214 COL7A1 implicated_via_orthology DOID:0060642 recessive dystrophic epidermolysis bullosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11742 TFAP2A implicated_via_orthology DOID:0050567 orofacial cleft ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9174 POLB implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9726 PYGM implicated_via_orthology DOID:2746 glycogen storage disease V ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2026 CLCNKA implicated_via_orthology DOID:12387 nephrogenic diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7675 NDN implicated_via_orthology DOID:11983 Prader-Willi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12858 ZAP70 implicated_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6826 MAN2B1 implicated_via_orthology DOID:3413 alpha-mannosidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 implicated_via_orthology DOID:8893 psoriasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15802 GATA5 implicated_via_orthology DOID:10825 essential hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6572 LGI1 implicated_via_orthology DOID:0060748 familial temporal lobe epilepsy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6161 ITGB6 implicated_via_orthology DOID:2841 asthma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:9952 acute lymphoblastic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL implicated_via_orthology DOID:0110165 Charcot-Marie-Tooth disease type 2E ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26361 HEPACAM implicated_via_orthology DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31928 NBEAL2 implicated_via_orthology DOID:0111044 gray platelet syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:961 BAZ1B implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC implicated_via_orthology DOID:4258 Weissenbacher-Zweymuller syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB implicated_via_orthology DOID:0110953 Waardenburg syndrome type 4A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:554 AP1B1 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11831 TK2 implicated_via_orthology DOID:0080120 mitochondrial DNA depletion syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9766 RAB27A implicated_via_orthology DOID:0050120 hemophagocytic lymphohistiocytosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1323 C4A implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26013 DNAAF5 implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF implicated_via_orthology DOID:12531 von Willebrand's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2555 CUL4B implicated_via_orthology DOID:1059 intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4877 HESX1 implicated_via_orthology DOID:0060857 septooptic dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB implicated_via_orthology DOID:0090116 spondylocarpotarsal synostosis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:263 ADORA2A implicated_via_orthology DOID:14557 primary pulmonary hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12404 TTPA implicated_via_orthology DOID:0090028 familial isolated deficiency of vitamin E ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12874 ZIC3 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 implicated_via_orthology DOID:0050475 Weill-Marchesani syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10947 SLC20A2 implicated_via_orthology DOID:0060230 basal ganglia calcification ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19721 CANT1 implicated_via_orthology DOID:0060462 Desbuquois dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 implicated_via_orthology DOID:3755 antithrombin III deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 implicated_via_orthology DOID:0050458 juvenile myelomonocytic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28510 GLIS3 implicated_via_orthology DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13179 IKZF4 implicated_via_orthology DOID:640 encephalomyelitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29059 IQSEC2 implicated_via_orthology DOID:0050776 non-syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28769 DRAM2 implicated_via_orthology DOID:0050572 cone-rod dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3671 FGF14 implicated_via_orthology DOID:0050976 spinocerebellar ataxia type 27 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15784 ULK4 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6079 INPP5D implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10885 SIPA1 implicated_via_orthology DOID:8552 chronic myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4881 HEY2 implicated_via_orthology DOID:62 aortic valve disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:175 ACVRL1 implicated_via_orthology DOID:0060688 arteriovenous malformations of the brain ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 implicated_via_orthology DOID:12842 Guillain-Barre syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25323 LRP5L implicated_via_orthology DOID:0060849 osteoporosis-pseudoglioma syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10805 SGCA implicated_via_orthology DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11577 TAFAZZIN implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9016 PKHD1 implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 implicated_via_orthology DOID:9119 acute myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26730 C1orf127 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2941 DNAH10 implicated_via_orthology DOID:0111910 spermatogenic failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10457 RS1 implicated_via_orthology DOID:0060763 X-linked juvenile retinoschisis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18153 TNFRSF13B implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4056 G6PC1 implicated_via_orthology DOID:2749 glycogen storage disease Ia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6126 IRS2 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29932 COASY implicated_via_orthology DOID:0110740 neurodegeneration with brain iron accumulation 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6595 LHX3 implicated_via_orthology DOID:9406 hypopituitarism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9118 PMP22 implicated_via_orthology DOID:0060843 hereditary neuropathy with liability to pressure palsies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11003 SLC29A1 implicated_via_orthology DOID:0050741 alcohol dependence ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9388 PRKAR1A implicated_via_orthology DOID:0060280 primary pigmented nodular adrenocortical disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:3012 Li-Fraumeni syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11743 TFAP2B implicated_via_orthology DOID:0060563 Char syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9005 PITX2 implicated_via_orthology DOID:1686 glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29502 PJVK implicated_via_orthology DOID:0110511 autosomal recessive nonsyndromic deafness 59 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20153 CHD8 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10548 ATXN1 implicated_via_orthology DOID:0050954 spinocerebellar ataxia type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15710 LDB3 implicated_via_orthology DOID:0110423 dilated cardiomyopathy 1C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1149 BUB1B implicated_via_orthology DOID:0080141 mosaic variegated aneuploidy syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25583 ODAD2 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 implicated_via_orthology DOID:12270 coloboma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25239 ARSK implicated_via_orthology DOID:12798 mucopolysaccharidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA implicated_via_orthology DOID:12716 newborn respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20091 AK7 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18632 KIF27 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1733 CDK13 implicated_via_orthology DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4075 GABRA1 implicated_via_orthology DOID:1827 idiopathic generalized epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:8997 polycythemia vera ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB implicated_via_orthology DOID:3265 chronic granulomatous disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 implicated_via_orthology DOID:0060484 EAST syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1952 CHRM3 implicated_via_orthology DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17643 GOPC implicated_via_orthology DOID:14227 azoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7103 MIP implicated_via_orthology DOID:0110251 cataract 15 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26790 WDR72 implicated_via_orthology DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11868 TRAPPC10 implicated_via_orthology DOID:12583 velocardiofacial syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25295 TLCD3B implicated_via_orthology DOID:0050572 cone-rod dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20672 PHF8 implicated_via_orthology DOID:0060812 syndromic X-linked intellectual disability Siderius type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17098 DICER1 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB implicated_via_orthology DOID:0111960 immunodeficiency 15A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24948 DOT1L implicated_via_orthology DOID:0110425 dilated cardiomyopathy 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 implicated_via_orthology DOID:13515 tuberous sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8616 PAX2 implicated_via_orthology DOID:0090006 renal coloboma syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4095 GADD45A implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 implicated_via_orthology DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8142 OPA3 implicated_via_orthology DOID:0110004 3-methylglutaconic aciduria type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25325 CFAP65 implicated_via_orthology DOID:0111918 spermatogenic failure 40 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:171 ACVR1 implicated_via_orthology DOID:13374 fibrodysplasia ossificans progressiva ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16513 TMC1 implicated_via_orthology DOID:0110520 autosomal recessive nonsyndromic deafness 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23194 THAP11 implicated_via_orthology DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11066 SLC7A8 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1312 TTLL1 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7605 MYO6 implicated_via_orthology DOID:0110552 autosomal dominant nonsyndromic deafness 22 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20376 SUMF1 implicated_via_orthology DOID:0050441 mucosulfatidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6717 LTBP4 implicated_via_orthology DOID:3144 cutis laxa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11600 TBX22 implicated_via_orthology DOID:0060613 X-linked cleft palate with or without ankyloglossia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 implicated_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9596 PTGER4 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 implicated_via_orthology DOID:0060691 platelet-type bleeding disorder 16 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18669 PALS1 implicated_via_orthology DOID:14791 Leber congenital amaurosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20318 SMOC1 implicated_via_orthology DOID:0060861 microphthalmia with limb anomalies ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN implicated_via_orthology DOID:0060368 Parkinson's disease 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1938 CHKB implicated_via_orthology DOID:0110632 megaconial type congenital muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16018 CADPS2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:853 ATP6V1B1 implicated_via_orthology DOID:0050565 autosomal recessive nonsyndromic deafness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A implicated_via_orthology DOID:0060178 familial hemiplegic migraine ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20788 RHBDF2 implicated_via_orthology DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8940 PHYH implicated_via_orthology DOID:10582 Refsum disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7514 MUC4 implicated_via_orthology DOID:0080599 Coronavirus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6423 KRT16 implicated_via_orthology DOID:0050449 pachyonychia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20188 DNAAF2 implicated_via_orthology DOID:0110612 primary ciliary dyskinesia 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5362 ID3 implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11741 TFAM implicated_via_orthology DOID:12934 Kearns-Sayre syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24102 ARSG implicated_via_orthology DOID:12798 mucopolysaccharidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6868 MAP6 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9008 PKD1 implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3816 FOXJ1 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9949 RECQL4 implicated_via_orthology DOID:2732 Rothmund-Thomson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9008 PKD1 implicated_via_orthology DOID:0110858 polycystic kidney disease 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1786 CDKN1C implicated_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:9164 achalasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17105 BEST3 implicated_via_orthology DOID:0080685 aortic dissection ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2895 EDAR implicated_via_orthology DOID:14793 hypohidrotic ectodermal dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10600 SCNN1B implicated_via_orthology DOID:0050477 Liddle syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2027 CLCNKB implicated_via_orthology DOID:0110144 Bartter disease type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7678 NDP implicated_via_orthology DOID:0060844 Norrie disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2950 DNAH5 implicated_via_orthology DOID:0110599 primary ciliary dyskinesia 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20778 TUBB implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2252 CORO1A implicated_via_orthology DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:35123 FOXI3 implicated_via_orthology DOID:2907 Goldenhar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:92 ACADVL implicated_via_orthology DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21498 ATG16L1 implicated_via_orthology DOID:0110885 inflammatory bowel disease 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8582 PAH implicated_via_orthology DOID:9281 phenylketonuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9234 MED1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN implicated_via_orthology DOID:10825 essential hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR implicated_via_orthology DOID:0111077 pyruvate kinase deficiency of red cells ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3702 FHL1 implicated_via_orthology DOID:0060253 scapuloperoneal myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1834 CEBPB implicated_via_orthology DOID:934 viral infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10583 SCN11A implicated_via_orthology DOID:0050548 hereditary sensory neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2190 COL13A1 implicated_via_orthology DOID:0110673 congenital myasthenic syndrome 19 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4223 MSTN implicated_via_orthology DOID:0111072 myostatin-related muscle hypertrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11067 SLC7A9 implicated_via_orthology DOID:9266 cystinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20748 FANCL implicated_via_orthology DOID:14450 46 XX gonadal dysgenesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2530 CTSE implicated_via_orthology DOID:3310 atopic dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10449 RREB1 implicated_via_orthology DOID:0080690 RASopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11528 TACR3 implicated_via_orthology DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 implicated_via_orthology DOID:14291 Noonan syndrome with multiple lentigines ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:34439 C2orf74 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14000 PRDM16 implicated_via_orthology DOID:0060480 left ventricular noncompaction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB implicated_via_orthology DOID:12241 beta thalassemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20653 SLC9A9 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12877 ZMPSTE24 implicated_via_orthology DOID:0050440 familial partial lipodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1349 SAMD9L implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5187 PRMT1 implicated_via_orthology DOID:674 cleft palate ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR implicated_via_orthology DOID:11211 buphthalmos ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28875 DNASE2B implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11764 TG implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14536 KLF15 implicated_via_orthology DOID:3627 aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:438 ALPL implicated_via_orthology DOID:0110913 adult hypophosphatasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18640 LDLRAP1 implicated_via_orthology DOID:0090105 autosomal recessive hypercholesterolemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:257 ADK implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 implicated_via_orthology DOID:0110339 osteogenesis imperfecta type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20152 ZFHX2 implicated_via_orthology DOID:0081075 Marsili syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4661 GTF2IRD1 implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8747 PCSK5 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8957 PIGA implicated_via_orthology DOID:0060713 autosomal recessive congenital ichthyosis 4B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25323 LRP5L implicated_via_orthology DOID:0050535 exudative vitreoretinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:897 AVPR2 implicated_via_orthology DOID:0081060 X-linked nephrogenic diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4298 GLB1 implicated_via_orthology DOID:3322 GM1 gangliosidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:950 BAP1 implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6724 LUM implicated_via_orthology DOID:14720 Ehlers-Danlos syndrome classic type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4122 GALNS implicated_via_orthology DOID:12804 mucopolysaccharidosis IV ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1914 RCBTB2 implicated_via_orthology DOID:2570 malignant histiocytic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8622 PAX8 implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 implicated_via_orthology DOID:0110957 Gaucher's disease type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14537 NPC2 implicated_via_orthology DOID:14504 Niemann-Pick disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12607 USP1 implicated_via_orthology DOID:13636 Fanconi anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6079 INPP5D implicated_via_orthology DOID:5408 Paget's disease of bone ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10577 STMN2 implicated_via_orthology DOID:870 neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11190 SOX10 implicated_via_orthology DOID:3614 Kallmann syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 implicated_via_orthology DOID:6255 growth hormone secreting pituitary adenoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24872 GNAS-AS1 implicated_via_orthology DOID:4184 pseudohypoparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A implicated_via_orthology DOID:1838 Menkes disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2194 COL17A1 implicated_via_orthology DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:408 ALDH5A1 implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 implicated_via_orthology DOID:2352 hemochromatosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26708 CFAP47 implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26952 OPN1MW2 implicated_via_orthology DOID:0050679 blue cone monochromacy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5948 IGSF1 implicated_via_orthology DOID:0111140 IGSF1 deficiency syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:3347 osteosarcoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4982 HMBS implicated_via_orthology DOID:3890 acute intermittent porphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12771 CCN6 implicated_via_orthology DOID:0090004 progressive pseudorheumatoid arthropathy of childhood ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26291 BBS10 implicated_via_orthology DOID:0110132 Bardet-Biedl syndrome 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 implicated_via_orthology DOID:12271 aniridia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6182 ITPR3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11654 TCOF1 implicated_via_orthology DOID:2908 Treacher Collins syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 implicated_via_orthology DOID:2226 myeloproliferative neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16512 BSND implicated_via_orthology DOID:0110145 Bartter disease type 4a ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:870 ATP7B implicated_via_orthology DOID:893 Wilson disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR implicated_via_orthology DOID:10609 rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 implicated_via_orthology DOID:0080089 tubular aggregate myopathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7605 MYO6 implicated_via_orthology DOID:0110495 autosomal recessive nonsyndromic deafness 37 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A implicated_via_orthology DOID:3627 aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M implicated_via_orthology DOID:2352 hemochromatosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 implicated_via_orthology DOID:2394 ovarian cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6909 MATN3 implicated_via_orthology DOID:0070299 multiple epiphyseal dysplasia 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5119 HOXB8 implicated_via_orthology DOID:0050587 trichotillomania ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4389 GNAO1 implicated_via_orthology DOID:0112276 neurodevelopmental disorder with involuntary movements ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11087 SLIT3 implicated_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11086 SLIT2 implicated_via_orthology DOID:2975 cystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:341 AGXT implicated_via_orthology DOID:0111670 primary hyperoxaluria type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:256 ADH7 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1394 CACNA1G implicated_via_orthology DOID:0111742 cerebellar ataxia type 42 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2226 COLQ implicated_via_orthology DOID:0110667 congenital myasthenic syndrome 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15936 NCOA6 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24051 AEBP2 implicated_via_orthology DOID:9258 Waardenburg syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5320 HYAL1 implicated_via_orthology DOID:0050809 mucopolysaccharidosis IX ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6502 RPSA implicated_via_orthology DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1786 CDKN1C implicated_via_orthology DOID:5572 Beckwith-Wiedemann syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12428 TWIST1 implicated_via_orthology DOID:14768 Saethre-Chotzen syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37619 RRN3P2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4812 HAP1 implicated_via_orthology DOID:1595 melancholic depression ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 implicated_via_orthology DOID:12960 acrocephalosyndactylia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29262 IFT80 implicated_via_orthology DOID:0110087 asphyxiating thoracic dystrophy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1968 LYST implicated_via_orthology DOID:2935 Chediak-Higashi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6645 PRICKLE3 implicated_via_orthology DOID:0111754 Leber plus disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2394 CRYBA1 implicated_via_orthology DOID:0110258 cataract 10 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18318 ASXL1 implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13628 CACNG8 implicated_via_orthology DOID:10939 antisocial personality disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15565 QRFPR implicated_via_orthology DOID:0080010 bone structure disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 implicated_via_orthology DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6483 LAMA3 implicated_via_orthology DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:3068 glioblastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30497 KIF7 implicated_via_orthology DOID:9250 acrocallosal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7121 MKS1 implicated_via_orthology DOID:0050651 atrioventricular septal defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4881 HEY2 implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B implicated_via_orthology DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17109 ADAMTS17 implicated_via_orthology DOID:0050475 Weill-Marchesani syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11122 SMPX implicated_via_orthology DOID:0111735 X-linked deafness 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:13042 persistent fetal circulation syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3289 EIF4EBP2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19316 P3H1 implicated_via_orthology DOID:0110336 osteogenesis imperfecta type 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 implicated_via_orthology DOID:5425 ovarian hyperstimulation syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2654 CCN1 implicated_via_orthology DOID:0110106 atrial heart septal defect 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3579 FAH implicated_via_orthology DOID:0050726 tyrosinemia type I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20443 MTSS1 implicated_via_orthology DOID:0060060 non-Hodgkin lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7601 MYO3A implicated_via_orthology DOID:0110489 autosomal recessive nonsyndromic deafness 30 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25481 TRMU implicated_via_orthology DOID:409 liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12597 USH1C implicated_via_orthology DOID:0110830 Usher syndrome type 1C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10013 GRK1 implicated_via_orthology DOID:0110713 Oguchi disease-2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18022 TP53INP1 implicated_via_orthology DOID:14221 abdominal obesity-metabolic syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27424 RBM20 implicated_via_orthology DOID:0060224 atrial fibrillation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6493 LAMC2 implicated_via_orthology DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14290 NLGN2 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26730 C1orf127 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18188 TMCO1 implicated_via_orthology DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 implicated_via_orthology DOID:0060747 Duane-radial ray syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5542 IGHMBP2 implicated_via_orthology DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN implicated_via_orthology DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12786 WNT7A implicated_via_orthology DOID:0090067 Fuhrmann syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6776 MAF implicated_via_orthology DOID:0110256 cataract 21 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:493 ANK2 implicated_via_orthology DOID:0050824 sinoatrial node disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11693 TCTE1 implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4877 HESX1 implicated_via_orthology DOID:9406 hypopituitarism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12877 ZMPSTE24 implicated_via_orthology DOID:3911 progeria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16692 CD320 implicated_via_orthology DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24502 WDR62 implicated_via_orthology DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 implicated_via_orthology DOID:3627 aortic aneurysm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9404 PRKCI implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2954 DNAI1 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11645 MLX implicated_via_orthology DOID:0070311 oligoasthenoteratozoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR implicated_via_orthology DOID:12365 malaria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 implicated_via_orthology DOID:13359 Ehlers-Danlos syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3808 FOXE3 implicated_via_orthology DOID:11367 congenital aphakia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26019 BPNT2 implicated_via_orthology DOID:0112224 chondrodysplasia with joint dislocations gPAPP type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8604 PAPSS2 implicated_via_orthology DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A implicated_via_orthology DOID:0070037 autosomal dominant intellectual developmental disorder 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15872 CFAP61 implicated_via_orthology DOID:0070311 oligoasthenoteratozoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21424 IFT74 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3439 ERCC8 implicated_via_orthology DOID:2962 Cockayne syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8768 AIFM1 implicated_via_orthology DOID:0060536 mitochondrial complex I deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:3962 thyroid gland follicular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13436 RPGRIP1 implicated_via_orthology DOID:0110329 Leber congenital amaurosis 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30349 POLR3H implicated_via_orthology DOID:5426 primary ovarian insufficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 implicated_via_orthology DOID:0060643 primary sclerosing cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20908 DZIP1 implicated_via_orthology DOID:0112175 spermatogenic failure 47 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2227 COMP implicated_via_orthology DOID:0080047 pseudoachondroplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16762 ZNF423 implicated_via_orthology DOID:2785 Dandy-Walker syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6296 KCNQ2 implicated_via_orthology DOID:14264 benign neonatal seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4326 GLRA1 implicated_via_orthology DOID:0060696 hyperekplexia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3972 FSTL1 implicated_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:465 AMHR2 implicated_via_orthology DOID:0050791 persistent Mullerian duct syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25198 SLC25A46 implicated_via_orthology DOID:0080068 Charcot-Marie-Tooth disease type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7820 NHS implicated_via_orthology DOID:0060599 Nance-Horan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR implicated_via_orthology DOID:0050638 transthyretin amyloidosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11588 TBP implicated_via_orthology DOID:0050967 spinocerebellar ataxia type 17 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG implicated_via_orthology DOID:0060611 abdominal obesity-metabolic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2529 CTSD implicated_via_orthology DOID:0110725 neuronal ceroid lipofuscinosis 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2232 COPB2 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12771 CCN6 implicated_via_orthology DOID:4680 breast metaplastic carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19706 ADAMTSL4 implicated_via_orthology DOID:110 lens disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 implicated_via_orthology DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 implicated_via_orthology DOID:2962 Cockayne syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18122 SOX17 implicated_via_orthology DOID:13608 biliary atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1058 BLM implicated_via_orthology DOID:2717 Bloom syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9725 PYGL implicated_via_orthology DOID:2754 glycogen storage disease VI ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC implicated_via_orthology DOID:0050580 hereditary lymphedema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4462 GPNMB implicated_via_orthology DOID:0060680 pigment dispersion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25280 ODAD4 implicated_via_orthology DOID:0110620 primary ciliary dyskinesia 35 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6954 MCPH1 implicated_via_orthology DOID:10907 microcephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7108 MKKS implicated_via_orthology DOID:0110128 Bardet-Biedl syndrome 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24809 SSUH2 implicated_via_orthology DOID:701 dentin dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7608 MYO9A implicated_via_orthology DOID:14159 obstructive hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26158 ELMOD3 implicated_via_orthology DOID:0110533 autosomal recessive nonsyndromic deafness 88 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30391 IFT172 implicated_via_orthology DOID:14679 VACTERL association ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3814 FOXH1 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31948 CEACAM16 implicated_via_orthology DOID:0110573 autosomal dominant nonsyndromic deafness 4A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10783 SRSF2 implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11052 SLC6A6 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7105 MITF implicated_via_orthology DOID:0090002 Tietz syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:174 ACVR2B implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6415 KRT13 implicated_via_orthology DOID:0050448 white sponge nevus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26684 CFAP43 implicated_via_orthology DOID:0070170 spermatogenic failure 19 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15781 CHRFAM7A implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS implicated_via_orthology DOID:6688 autoimmune lymphoproliferative syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14262 AUTS2 implicated_via_orthology DOID:0070056 autosomal dominant intellectual developmental disorder 26 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 implicated_via_orthology DOID:10609 rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4419 GNRH1 implicated_via_orthology DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9498 PSAP implicated_via_orthology DOID:10587 Krabbe disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 implicated_via_orthology DOID:2986 IgA glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17717 STK39 implicated_via_orthology DOID:0050450 Gitelman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11055 SLC6A8 implicated_via_orthology DOID:0050800 cerebral creatine deficiency syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11796 THRA implicated_via_orthology DOID:11633 thyroid hormone resistance syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 implicated_via_orthology DOID:0050811 congenital adrenal hyperplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6518 LBR implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1546 SERPINH1 implicated_via_orthology DOID:0110346 osteogenesis imperfecta type 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10914 SLC12A6 implicated_via_orthology DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11590 TBR1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 implicated_via_orthology DOID:0111089 Fanconi anemia complementation group D1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB implicated_via_orthology DOID:0080109 infantile myofibromatosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2187 COL11A2 implicated_via_orthology DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3806 FOXE1 implicated_via_orthology DOID:0050655 Bamforth-Lazarus syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA implicated_via_orthology DOID:0060367 Parkinson's disease 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29434 RC3H1 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC implicated_via_orthology DOID:0050158 desquamative interstitial pneumonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1393 CACNA1F implicated_via_orthology DOID:0110871 congenital stationary night blindness 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3052 DSP implicated_via_orthology DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13831 WDR11 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5273 HSPG2 implicated_via_orthology DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9388 PRKAR1A implicated_via_orthology DOID:3962 thyroid gland follicular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7994 NRCAM implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4173 GATA4 implicated_via_orthology DOID:0110107 atrial heart septal defect 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 implicated_via_orthology DOID:0060588 Noonan syndrome 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2025 CLCN7 implicated_via_orthology DOID:0110938 autosomal dominant osteopetrosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25169 GPRASP2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 implicated_via_orthology DOID:13515 tuberous sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22140 FAM20C implicated_via_orthology DOID:10609 rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6297 KCNQ3 implicated_via_orthology DOID:14264 benign neonatal seizures ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2296 CPA1 implicated_via_orthology DOID:4989 pancreatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8786 PDE6B implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15597 HPS3 implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9402 PRKCG implicated_via_orthology DOID:0050964 spinocerebellar ataxia type 14 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4136 GAMT implicated_via_orthology DOID:0050799 guanidinoacetate methyltransferase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11270 SPRY2 implicated_via_orthology DOID:0060340 ciliopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7526 MMUT implicated_via_orthology DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8512 OTC implicated_via_orthology DOID:9271 ornithine carbamoyltransferase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15889 FERMT1 implicated_via_orthology DOID:0060472 Kindler syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1513 CASQ2 implicated_via_orthology DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 implicated_via_orthology DOID:1852 intrahepatic cholestasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4855 HDC implicated_via_orthology DOID:11119 Gilles de la Tourette syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10535 SAR1B implicated_via_orthology DOID:0060357 chylomicron retention disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5959 ELP1 implicated_via_orthology DOID:11589 Riley-Day syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11051 SLC6A5 implicated_via_orthology DOID:0060698 hyperekplexia 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2216 COL8A2 implicated_via_orthology DOID:11555 Fuchs' endothelial dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 implicated_via_orthology DOID:0060369 Parkinson's disease 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29253 CC2D2A implicated_via_orthology DOID:0050778 Meckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11184 SORD implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6142 ITGA6 implicated_via_orthology DOID:0060737 junctional epidermolysis bullosa Herlitz type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2388 CRYAA implicated_via_orthology DOID:0110266 cataract 9 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C implicated_via_orthology DOID:11983 Prader-Willi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3239 EGR2 implicated_via_orthology DOID:0110195 Charcot-Marie-Tooth disease type 4E ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18362 IMPG2 implicated_via_orthology DOID:0050661 vitelliform macular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA implicated_via_orthology DOID:12802 mucopolysaccharidosis I ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32331 CFAP276 implicated_via_orthology DOID:0050543 Charcot-Marie-Tooth disease intermediate type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14063 HDAC4 implicated_via_orthology DOID:8670 eating disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 implicated_via_orthology DOID:1214 tympanosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11270 SPRY2 implicated_via_orthology DOID:9164 achalasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26676 CFAP58 implicated_via_orthology DOID:0070311 oligoasthenoteratozoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7713 NDUFS6 implicated_via_orthology DOID:0060536 mitochondrial complex I deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB implicated_via_orthology DOID:2226 myeloproliferative neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A implicated_via_orthology DOID:0050956 spinocerebellar ataxia type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2592 CYP11B2 implicated_via_orthology DOID:0050811 congenital adrenal hyperplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16700 ZFPM2 implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11526 TACR1 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12449 TYROBP implicated_via_orthology DOID:0090112 Nasu-Hakola disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 implicated_via_orthology DOID:418 systemic scleroderma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11771 TGFBI implicated_via_orthology DOID:2566 corneal dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21539 RBM24 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:55527 TOMT implicated_via_orthology DOID:0110515 autosomal recessive nonsyndromic deafness 63 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21637 SATB2 implicated_via_orthology DOID:0110213 isolated cleft palate ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28852 SYCE1 implicated_via_orthology DOID:0080869 primary ovarian insufficiency 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16356 USH1G implicated_via_orthology DOID:0110834 Usher syndrome type 1G ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D implicated_via_orthology DOID:0060473 Kabuki syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21226 LRFN2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12840 YARS1 implicated_via_orthology DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:784 ATF2 implicated_via_orthology DOID:2256 osteochondrodysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2537 CTSL implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10349 RPL38 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14674 PCDH15 implicated_via_orthology DOID:0110832 Usher syndrome type 1F ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD implicated_via_orthology DOID:11723 Duchenne muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9581 PSTPIP2 implicated_via_orthology DOID:0060645 chronic recurrent multifocal osteomyelitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 implicated_via_orthology DOID:3529 congenital myopathy 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7981 NR4A2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 implicated_via_orthology DOID:0050644 arterial calcification of infancy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2135 SBF2 implicated_via_orthology DOID:0110190 Charcot-Marie-Tooth disease type 4B2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17722 SPRED2 implicated_via_orthology DOID:4480 achondroplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7680 NDST1 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25660 TTC21B implicated_via_orthology DOID:2975 cystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9607 PTHLH implicated_via_orthology DOID:0080053 Albright's hereditary osteodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20856 THAP1 implicated_via_orthology DOID:0090039 torsion dystonia 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF implicated_via_orthology DOID:2571 Langerhans-cell histiocytosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4688 GUCY2C implicated_via_orthology DOID:0060611 abdominal obesity-metabolic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18884 TDP1 implicated_via_orthology DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7660 NCF1 implicated_via_orthology DOID:3265 chronic granulomatous disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10982 SLC25A12 implicated_via_orthology DOID:0080349 developmental and epileptic encephalopathy 39 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16466 SUFU implicated_via_orthology DOID:2512 nevoid basal cell carcinoma syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10889 SIX3 implicated_via_orthology DOID:0110872 holoprosencephaly 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:791 ATF6 implicated_via_orthology DOID:0110009 achromatopsia 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29814 MUS81 implicated_via_orthology DOID:14323 Marfan syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23399 FREM1 implicated_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4289 GK implicated_via_orthology DOID:0060363 glycerol kinase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3960 FSCN2 implicated_via_orthology DOID:2742 auditory system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:129 ACTA1 implicated_via_orthology DOID:0110927 nemaline myopathy 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 implicated_via_orthology DOID:12712 nephronophthisis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3693 FGFRL1 implicated_via_orthology DOID:0050460 Wolf-Hirschhorn syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2950 DNAH5 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1540 SERPINA6 implicated_via_orthology DOID:0090030 corticosteroid-binding globulin deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:166 ACTN4 implicated_via_orthology DOID:0111128 focal segmental glomerulosclerosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15868 ABHD12 implicated_via_orthology DOID:0080181 PHARC syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:691 PHOX2A implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9766 RAB27A implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:583 APC implicated_via_orthology DOID:0050424 familial adenomatous polyposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:0050834 CHARGE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN implicated_via_orthology DOID:13544 low tension glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25786 REEP1 implicated_via_orthology DOID:0110782 hereditary spastic paraplegia 31 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9069 PLEC implicated_via_orthology DOID:0060736 epidermolysis bullosa simplex Ogna type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23503 SLITRK6 implicated_via_orthology DOID:10003 sensorineural hearing loss ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 implicated_via_orthology DOID:2339 Crouzon syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17761 TREM2 implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8786 PDE6B implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:195 ADAM17 implicated_via_orthology DOID:3310 atopic dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 implicated_via_orthology DOID:0110893 inflammatory bowel disease 13 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 implicated_via_orthology DOID:3883 Lynch syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9006 PITX3 implicated_via_orthology DOID:0060648 anterior segment dysgenesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11190 SOX10 implicated_via_orthology DOID:0110955 Waardenburg syndrome type 4C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:897 AVPR2 implicated_via_orthology DOID:12387 nephrogenic diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG implicated_via_orthology DOID:12305 Bloch-Sulzberger syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2409 CRYGB implicated_via_orthology DOID:0110236 cataract 39 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3522 EYA4 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP implicated_via_orthology DOID:9255 frontotemporal dementia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2195 COL18A1 implicated_via_orthology DOID:0060680 pigment dispersion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10583 SCN11A implicated_via_orthology DOID:0111731 familial episodic pain syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3050 DSG3 implicated_via_orthology DOID:0060851 pemphigus vulgaris ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9459 PROX1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4180 GBE1 implicated_via_orthology DOID:2750 glycogen storage disease IV ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11778 TGM2 implicated_via_orthology DOID:0050524 maturity-onset diabetes of the young ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11497 SYNGAP1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6341 KISS1 implicated_via_orthology DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:801 ATP1A3 implicated_via_orthology DOID:3312 bipolar disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:35459 CCDC85C implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8005 NRP2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11272 SPTA1 implicated_via_orthology DOID:0110918 hereditary spherocytosis type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:895 AVPR1A implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8918 PHEX implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:360 AIRE implicated_via_orthology DOID:0050167 autoimmune polyendocrine syndrome type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA implicated_via_orthology DOID:12583 velocardiofacial syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 implicated_via_orthology DOID:0110426 dilated cardiomyopathy 1D ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29814 MUS81 implicated_via_orthology DOID:0050645 arterial tortuosity syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10807 SGCD implicated_via_orthology DOID:0110436 dilated cardiomyopathy 1L ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 implicated_via_orthology DOID:0111454 SHORT syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6174 ITM2B implicated_via_orthology DOID:9246 cerebral amyloid angiopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6121 IRF6 implicated_via_orthology DOID:0060055 popliteal pterygium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2501 CTH implicated_via_orthology DOID:0090142 cystathioninuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11118 SMN2 implicated_via_orthology DOID:13137 Werdnig-Hoffmann disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13487 VPS35 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3818 FOXM1 implicated_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21197 FA2H implicated_via_orthology DOID:0110786 hereditary spastic paraplegia 35 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 implicated_via_orthology DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:676 ARHGAP6 implicated_via_orthology DOID:10629 microphthalmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25338 PIANP implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18688 CRB2 implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17111 ADAMTS19 implicated_via_orthology DOID:62 aortic valve disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12874 ZIC3 implicated_via_orthology DOID:2907 Goldenhar syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2411 CRYGD implicated_via_orthology DOID:0110235 cataract 2 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4065 GAA implicated_via_orthology DOID:2752 glycogen storage disease II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1397 CACNA1S implicated_via_orthology DOID:14452 hypokalemic periodic paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6518 LBR implicated_via_orthology DOID:1702 ichthyosis vulgaris ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6490 LAMB3 implicated_via_orthology DOID:0060737 junctional epidermolysis bullosa Herlitz type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20974 ADGRL3 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 implicated_via_orthology DOID:0110859 polycystic kidney disease 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17642 DCLRE1C implicated_via_orthology DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11755 TFF1 implicated_via_orthology DOID:10534 stomach cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23792 PLD4 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23246 MYPN implicated_via_orthology DOID:0110933 nemaline myopathy 11 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4878 HEXA implicated_via_orthology DOID:3320 Tay-Sachs disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:644 AR implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18121 MFRP implicated_via_orthology DOID:11105 fundus albipunctatus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:4905 pancreatic carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11079 SLC9A6 implicated_via_orthology DOID:0060825 Christianson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1962 CHRNB2 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10596 SCN8A implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29331 EPG5 implicated_via_orthology DOID:332 amyotrophic lateral sclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13764 RELT implicated_via_orthology DOID:0111722 amelogenesis imperfecta type 3C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17146 ARL2BP implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25583 ODAD2 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23198 CYP4V2 implicated_via_orthology DOID:0050664 Bietti crystalline corneoretinal dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23145 MAFA implicated_via_orthology DOID:0050524 maturity-onset diabetes of the young ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16762 ZNF423 implicated_via_orthology DOID:2786 cerebellar disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10933 SLC17A5 implicated_via_orthology DOID:3659 sialuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 implicated_via_orthology DOID:14261 fragile X syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9410 PRKCQ implicated_via_orthology DOID:5327 retinal detachment ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 implicated_via_orthology DOID:2945 severe acute respiratory syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14294 SHANK3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30372 KLHL40 implicated_via_orthology DOID:0110930 nemaline myopathy 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16513 TMC1 implicated_via_orthology DOID:0110563 autosomal dominant nonsyndromic deafness 36 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13887 ABCG8 implicated_via_orthology DOID:0090019 sitosterolemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9878 RASGRP1 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15968 GDAP1 implicated_via_orthology DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10888 SIX2 implicated_via_orthology DOID:674 cleft palate ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6654 LMX1B implicated_via_orthology DOID:9467 nail-patella syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19750 TTC7A implicated_via_orthology DOID:8893 psoriasis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:39433 PRSS56 implicated_via_orthology DOID:0060835 isolated microphthalmia 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2860 DHCR7 implicated_via_orthology DOID:14692 Smith-Lemli-Opitz syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:566 AP3B1 implicated_via_orthology DOID:0060540 Hermansky-Pudlak syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16446 CARD14 implicated_via_orthology DOID:0080475 psoriasis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6184 ITSN2 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19185 FRAS1 implicated_via_orthology DOID:0090001 Fraser syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1390 CACNA1C implicated_via_orthology DOID:0060173 Timothy syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2950 DNAH5 implicated_via_orthology DOID:6419 tetralogy of Fallot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13254 FTSJ1 implicated_via_orthology DOID:0112034 non-syndromic X-linked intellectual disability 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 implicated_via_orthology DOID:6000 congestive heart failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5394 CFI implicated_via_orthology DOID:2921 glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 implicated_via_orthology DOID:8545 malignant hyperthermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17380 ANAPC7 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3604 FBN2 implicated_via_orthology DOID:0050646 distal arthrogryposis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD implicated_via_orthology DOID:9883 Becker muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17382 SRGAP1 implicated_via_orthology DOID:1312 focal segmental glomerulosclerosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29077 IFT140 implicated_via_orthology DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23503 SLITRK6 implicated_via_orthology DOID:0111628 high myopia-sensorineural deafness syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25079 CCDC34 implicated_via_orthology DOID:0111910 spermatogenic failure ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11086 SLIT2 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:977 BCAT2 implicated_via_orthology DOID:9269 maple syrup urine disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11191 SOX11 implicated_via_orthology DOID:4258 Weissenbacher-Zweymuller syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2321 CPOX implicated_via_orthology DOID:13269 hereditary coproporphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27337 ANO5 implicated_via_orthology DOID:0111533 gnathodiaphyseal dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20207 B3GLCT implicated_via_orthology DOID:0080201 Peters plus syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2074 CLN3 implicated_via_orthology DOID:0110731 neuronal ceroid lipofuscinosis 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28093 BBIP1 implicated_via_orthology DOID:0110140 Bardet-Biedl syndrome 18 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4593 GRM1 implicated_via_orthology DOID:0080062 autosomal recessive spinocerebellar ataxia 13 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13733 CDH23 implicated_via_orthology DOID:0110467 autosomal recessive nonsyndromic deafness 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:966 BBS1 implicated_via_orthology DOID:0110123 Bardet-Biedl syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18083 TRPV4 implicated_via_orthology DOID:0110555 autosomal dominant nonsyndromic deafness 25 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF implicated_via_orthology DOID:0050589 inflammatory bowel disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4265 GHRH implicated_via_orthology DOID:0060873 isolated growth hormone deficiency type IA ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15511 VANGL2 implicated_via_orthology DOID:0080074 neural tube defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28242 HPDL implicated_via_orthology DOID:1289 neurodegenerative disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 implicated_via_orthology DOID:0111142 oligomeganephronia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3157 EDA implicated_via_orthology DOID:14793 hypohidrotic ectodermal dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5163 HPS1 implicated_via_orthology DOID:0060539 Hermansky-Pudlak syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7758 NEU1 implicated_via_orthology DOID:3343 glycoproteinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20105 FLVCR2 implicated_via_orthology DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP implicated_via_orthology DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12099 HSP90B2P implicated_via_orthology DOID:0112312 male infertility due to globozoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3343 EN2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7975 NR2F1 implicated_via_orthology DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:701 BMAL1 implicated_via_orthology DOID:9351 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR implicated_via_orthology DOID:0090107 autosomal dominant hypocalcemia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3696 FGL2 implicated_via_orthology DOID:0040094 autoimmune glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9936 OPN1LW implicated_via_orthology DOID:0050679 blue cone monochromacy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8632 PBX1 implicated_via_orthology DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:225 ADAR implicated_via_orthology DOID:0050629 Aicardi-Goutieres syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2343 CRB1 implicated_via_orthology DOID:0110358 retinitis pigmentosa 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS implicated_via_orthology DOID:11717 neonatal diabetes ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12588 UQCRFS1P1 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2950 DNAH5 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11042 SLC6A1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24245 DRC1 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 implicated_via_orthology DOID:0060651 MYH-9 related disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6021 IL6ST implicated_via_orthology DOID:7148 rheumatoid arthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30548 RRN3P1 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A implicated_via_orthology DOID:0050835 generalized dystonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET implicated_via_orthology DOID:0050771 pheochromocytoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3086 DVL2 implicated_via_orthology DOID:0060770 dextro-looped transposition of the great arteries ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8008 NRXN1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7392 MSX2 implicated_via_orthology DOID:0060285 parietal foramina ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:263 ADORA2A implicated_via_orthology DOID:11830 myopia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:735 ASAH1 implicated_via_orthology DOID:0050464 Farber lipogranulomatosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12765 FOXN1 implicated_via_orthology DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3231 CELSR2 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9768 RAB28 implicated_via_orthology DOID:0111024 cone-rod dystrophy 18 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6696 LRP4 implicated_via_orthology DOID:0060757 sclerosteosis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 implicated_via_orthology DOID:0050700 cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5273 HSPG2 implicated_via_orthology DOID:0090005 Schwartz-Jampel syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4847 HCRT implicated_via_orthology DOID:8986 narcolepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2211 COL6A1 implicated_via_orthology DOID:0050558 Ullrich congenital muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF implicated_via_orthology DOID:1909 melanoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11777 TGM1 implicated_via_orthology DOID:0060656 autosomal recessive congenital ichthyosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7515 MUC5AC implicated_via_orthology DOID:10140 dry eye syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4851 HTT implicated_via_orthology DOID:12858 Huntington's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4637 GSTM5 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6824 MAN2A1 implicated_via_orthology DOID:1338 congenital dyserythropoietic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17992 TRPM3 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7545 MYB implicated_via_orthology DOID:4971 myelofibrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2227 COMP implicated_via_orthology DOID:12721 multiple epiphyseal dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17019 PRICKLE1 implicated_via_orthology DOID:12583 velocardiofacial syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5008 HMGCS2 implicated_via_orthology DOID:0081168 HMG-CoA synthase 2 deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26894 TPRN implicated_via_orthology DOID:0110526 autosomal recessive nonsyndromic deafness 79 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6229 KCNAB2 implicated_via_orthology DOID:0060410 chromosome 1p36 deletion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26401 MARVELD2 implicated_via_orthology DOID:0110506 autosomal recessive nonsyndromic deafness 49 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7795 NFKB2 implicated_via_orthology DOID:12177 common variable immunodeficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:756 ASPA implicated_via_orthology DOID:3613 Canavan disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11743 TFAP2B implicated_via_orthology DOID:13550 angle-closure glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11598 TBX20 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:620 APP implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 implicated_via_orthology DOID:0110892 inflammatory bowel disease 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7548 MYBL2 implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17019 PRICKLE1 implicated_via_orthology DOID:0111448 progressive myoclonus epilepsy 1B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2037 CLDN16 implicated_via_orthology DOID:0060880 renal hypomagnesemia 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28337 C9orf72 implicated_via_orthology DOID:417 autoimmune disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 implicated_via_orthology DOID:4480 achondroplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2207 COL4A5 implicated_via_orthology DOID:0110034 X-linked Alport syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6698 LRP6 implicated_via_orthology DOID:0080074 neural tube defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6923 MBNL1 implicated_via_orthology DOID:450 myotonic disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12872 ZIC1 implicated_via_orthology DOID:0050777 Joubert syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11065 SLC7A7 implicated_via_orthology DOID:0060439 lysinuric protein intolerance ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN implicated_via_orthology DOID:0050559 Fukuyama congenital muscular dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18744 DNAI2 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 implicated_via_orthology DOID:0110746 type 1 diabetes mellitus 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3003 DPH1 implicated_via_orthology DOID:0060469 Miller-Dieker lissencephaly syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2348 CREBBP implicated_via_orthology DOID:1933 Rubinstein-Taybi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13394 NPHS2 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29813 SAP130 implicated_via_orthology DOID:9955 hypoplastic left heart syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2946 DNAH17 implicated_via_orthology DOID:0111926 spermatogenic failure 39 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14415 ELOVL4 implicated_via_orthology DOID:0050817 Stargardt disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20606 IFT88 implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4416 GNPAT implicated_via_orthology DOID:150 disease of mental health ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12028 HSP90B1 implicated_via_orthology DOID:0112312 male infertility due to globozoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9278 PPM1G implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:6457 Cowden syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14372 SCYL1 implicated_via_orthology DOID:0050951 hereditary ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2084 CLPP implicated_via_orthology DOID:0050857 Perrault syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2187 COL11A2 implicated_via_orthology DOID:0080046 Stickler syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17652 PORCN implicated_via_orthology DOID:2120 focal dermal hypoplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG implicated_via_orthology DOID:6688 autoimmune lymphoproliferative syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20499 L2HGDH implicated_via_orthology DOID:0050574 L-2-hydroxyglutaric aciduria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8574 PAFAH1B1 implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20461 NME7 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9086 PLP1 implicated_via_orthology DOID:3210 Pelizaeus-Merzbacher disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 implicated_via_orthology DOID:0060887 ossification of the posterior longitudinal ligament of spine ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 implicated_via_orthology DOID:13641 exfoliation syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20665 SCN3B implicated_via_orthology DOID:0110224 Brugada syndrome 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7602 MYO5A implicated_via_orthology DOID:0060832 Griscelli syndrome type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30836 POC1B implicated_via_orthology DOID:0070311 oligoasthenoteratozoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4326 GLRA1 implicated_via_orthology DOID:0060695 hyperekplexia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:51831 OPN1MW3 implicated_via_orthology DOID:0050679 blue cone monochromacy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29605 SH2B3 implicated_via_orthology DOID:8552 chronic myeloid leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 implicated_via_orthology DOID:1388 Tangier disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7648 NBEA implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2942 DNAH11 implicated_via_orthology DOID:0050651 atrioventricular septal defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:583 APC implicated_via_orthology DOID:9256 colorectal cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:55526 LRRC51 implicated_via_orthology DOID:0110515 autosomal recessive nonsyndromic deafness 63 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7028 MEST implicated_via_orthology DOID:0050476 Barth syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD implicated_via_orthology DOID:2452 thrombophilia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7328 MSH5 implicated_via_orthology DOID:0080870 primary ovarian insufficiency 13 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7892 PNP implicated_via_orthology DOID:5813 purine nucleoside phosphorylase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12575 UOX implicated_via_orthology DOID:1920 hyperuricemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11868 TRAPPC10 implicated_via_orthology DOID:0060341 agnathia-otocephaly complex ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2770 DES implicated_via_orthology DOID:0080092 myofibrillar myopathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1919 CHD4 implicated_via_orthology DOID:0060480 left ventricular noncompaction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6698 LRP6 implicated_via_orthology DOID:9452 steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11799 THRB implicated_via_orthology DOID:11633 thyroid hormone resistance syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1858 CNTRL implicated_via_orthology DOID:12712 nephronophthisis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5993 IL1R1 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6296 KCNQ2 implicated_via_orthology DOID:0080462 developmental and epileptic encephalopathy 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14362 MUC19 implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX implicated_via_orthology DOID:0050453 lissencephaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2260 COX10 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 implicated_via_orthology DOID:0050458 juvenile myelomonocytic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2202 COL4A1 implicated_via_orthology DOID:557 kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16035 STRC implicated_via_orthology DOID:0110471 autosomal recessive nonsyndromic deafness 16 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12873 ZIC2 implicated_via_orthology DOID:0110878 holoprosencephaly 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29626 MRGPRD implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4570 GRHPR implicated_via_orthology DOID:0111671 primary hyperoxaluria type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:0050458 juvenile myelomonocytic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29813 SAP130 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25244 CCDC39 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3228 EFNB3 implicated_via_orthology DOID:480 movement disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 implicated_via_orthology DOID:0110845 xeroderma pigmentosum group D ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 implicated_via_orthology DOID:10871 age related macular degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 implicated_via_orthology DOID:0080005 bone remodeling disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:0050745 diffuse large B-cell lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2394 CRYBA1 implicated_via_orthology DOID:0110014 age related macular degeneration 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18292 CFC1 implicated_via_orthology DOID:0060856 right atrial isomerism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:22923 GMPPA implicated_via_orthology DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14631 ADAMTSL2 implicated_via_orthology DOID:0111725 geleophysic dysplasia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4166 GAS8 implicated_via_orthology DOID:0110619 primary ciliary dyskinesia 33 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12605 CLRN1 implicated_via_orthology DOID:0110841 Usher syndrome type 3A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3602 FBLN5 implicated_via_orthology DOID:3144 cutis laxa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16067 MYOCD implicated_via_orthology DOID:0112014 congenital megabladder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4206 OPN1MW implicated_via_orthology DOID:0050679 blue cone monochromacy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9388 PRKAR1A implicated_via_orthology DOID:0050471 Carney complex ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4296 GLA implicated_via_orthology DOID:14499 Fabry disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11529 EPCAM implicated_via_orthology DOID:0060776 congenital diarrhea 5 with tufting enteropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6741 LZTFL1 implicated_via_orthology DOID:0110139 Bardet-Biedl syndrome 17 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A implicated_via_orthology DOID:0080188 chronic myelomonocytic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:583 APC implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3226 EFNB1 implicated_via_orthology DOID:14737 craniofrontonasal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11647 TCIRG1 implicated_via_orthology DOID:11836 clubfoot ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12799 WWOX implicated_via_orthology DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 implicated_via_orthology DOID:0111000 Joubert syndrome 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2902 DLG3 implicated_via_orthology DOID:0050776 non-syndromic X-linked intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 implicated_via_orthology DOID:0014667 disease of metabolism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14301 XIRP1 implicated_via_orthology DOID:11984 hypertrophic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30185 CRBN implicated_via_orthology DOID:0060308 autosomal recessive intellectual developmental disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP implicated_via_orthology DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4921 HIVEP2 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4685 GUCY1A1 implicated_via_orthology DOID:1070 primary open angle glaucoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP implicated_via_orthology DOID:4603 epidermolytic hyperkeratosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB implicated_via_orthology DOID:0060230 basal ganglia calcification ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23516 BORCS7 implicated_via_orthology DOID:2367 neuroaxonal dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6649 LMOD3 implicated_via_orthology DOID:0110931 nemaline myopathy 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8818 SLC26A4 implicated_via_orthology DOID:0060744 Pendred Syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6121 IRF6 implicated_via_orthology DOID:9296 cleft lip ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12015 TPO implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH implicated_via_orthology DOID:2920 membranoproliferative glomerulonephritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:1324 lung cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12766 NSD2 implicated_via_orthology DOID:0050460 Wolf-Hirschhorn syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2435 CSF2RA implicated_via_orthology DOID:12120 pulmonary alveolar proteinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 implicated_via_orthology DOID:2129 atypical teratoid rhabdoid tumor ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6442 KRT5 implicated_via_orthology DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7960 NR0B1 implicated_via_orthology DOID:0080156 X-linked adrenal hypoplasia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN implicated_via_orthology DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17098 DICER1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2023 CLCN5 implicated_via_orthology DOID:0050699 Dent disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8016 NSF implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17209 STK36 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24650 EHMT1 implicated_via_orthology DOID:0060352 Kleefstra syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4214 GDF1 implicated_via_orthology DOID:0060850 annular pancreas ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:359 AIPL1 implicated_via_orthology DOID:0110332 Leber congenital amaurosis 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1020 BCS1L implicated_via_orthology DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8148 OPHN1 implicated_via_orthology DOID:0050888 syndromic intellectual disability ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:174 ACVR2B implicated_via_orthology DOID:0060856 right atrial isomerism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4892 HGD implicated_via_orthology DOID:9270 alkaptonuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX implicated_via_orthology DOID:0050709 early infantile epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 implicated_via_orthology DOID:0060648 anterior segment dysgenesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23088 SLC10A7 implicated_via_orthology DOID:225 syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2417 CRYGS implicated_via_orthology DOID:0110240 cataract 20 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17340 PRPF8 implicated_via_orthology DOID:0110403 retinitis pigmentosa 13 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A implicated_via_orthology DOID:0090018 autosomal dominant familial periodic fever ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33 ABCA3 implicated_via_orthology DOID:12120 pulmonary alveolar proteinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21493 DNAAF4 implicated_via_orthology DOID:0060254 Robinow syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9454 PROM1 implicated_via_orthology DOID:0110376 retinitis pigmentosa 41 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13201 ADAMTS10 implicated_via_orthology DOID:0050475 Weill-Marchesani syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7945 NPR3 implicated_via_orthology DOID:0080001 bone disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3218 EFEMP1 implicated_via_orthology DOID:0060745 Doyne honeycomb retinal dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7448 MTM1 implicated_via_orthology DOID:14717 centronuclear myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG implicated_via_orthology DOID:0060688 arteriovenous malformations of the brain ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15832 BSCL2 implicated_via_orthology DOID:12336 male infertility ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:34 ABCA4 implicated_via_orthology DOID:0050817 Stargardt disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16953 POSTN implicated_via_orthology DOID:1474 aggressive periodontitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17009 TRIOBP implicated_via_orthology DOID:0110486 autosomal recessive nonsyndromic deafness 28 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28196 TMEM79 implicated_via_orthology DOID:3310 atopic dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26125 SPATA20 implicated_via_orthology DOID:0070311 oligoasthenoteratozoospermia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28127 CPLANE2 implicated_via_orthology DOID:14679 VACTERL association ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6482 LAMA2 implicated_via_orthology DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1034 BECN1 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21396 ABHD5 implicated_via_orthology DOID:0050729 Chanarin-Dorfman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7105 MITF implicated_via_orthology DOID:0090100 ocular albinism with sensorineural deafness ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11190 SOX10 implicated_via_orthology DOID:0090111 PCWH syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9006 PITX3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6416 KRT14 implicated_via_orthology DOID:4644 epidermolysis bullosa simplex ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20331 RASA3 implicated_via_orthology DOID:12449 aplastic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14881 ZEB2 implicated_via_orthology DOID:0060485 Mowat-Wilson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 implicated_via_orthology DOID:2513 basal cell carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2020 CLCN2 implicated_via_orthology DOID:10579 leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8925 PHKA1 implicated_via_orthology DOID:0111040 glycogen storage disease IXd ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5010 HMGA1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11025 SLC3A1 implicated_via_orthology DOID:9266 cystinuria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:20626 CHD7 implicated_via_orthology DOID:0050834 CHARGE syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 implicated_via_orthology DOID:1094 attention deficit hyperactivity disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2472 CSRP3 implicated_via_orthology DOID:0110449 dilated cardiomyopathy 1M ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21317 DYM implicated_via_orthology DOID:0060247 Smith-McCort dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3814 FOXH1 implicated_via_orthology DOID:0060341 agnathia-otocephaly complex ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6319 KIF3A implicated_via_orthology DOID:0080322 polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A implicated_via_orthology DOID:0110646 long QT syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21576 NHLRC1 implicated_via_orthology DOID:3534 Lafora disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27310 FLCN implicated_via_orthology DOID:0050676 Birt-Hogg-Dube syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:3911 progeria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21219 CILK1 implicated_via_orthology DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10591 SCN4A implicated_via_orthology DOID:14452 hypokalemic periodic paralysis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16068 PCNT implicated_via_orthology DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 implicated_via_orthology DOID:0060233 cardiofaciocutaneous syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29203 TBC1D24 implicated_via_orthology DOID:0080449 developmental and epileptic encephalopathy 16 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10808 SGCE implicated_via_orthology DOID:0090034 myoclonic dystonia 11 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10596 SCN8A implicated_via_orthology DOID:0050709 early infantile epileptic encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1667 CD38 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10257 ROR2 implicated_via_orthology DOID:0060764 autosomal recessive Robinow syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16873 FIG4 implicated_via_orthology DOID:0110184 Charcot-Marie-Tooth disease type 4J ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6664 LOX implicated_via_orthology DOID:1928 Williams-Beuren syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2204 COL4A3 implicated_via_orthology DOID:0110033 autosomal recessive Alport syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6917 MBD2 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2680 DIDO1 implicated_via_orthology DOID:4972 myelodysplastic/myeloproliferative neoplasm ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:560 AP1S2 implicated_via_orthology DOID:0060800 syndromic X-linked intellectual disability 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8846 PER2 implicated_via_orthology DOID:0110011 advanced sleep phase syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19139 POMGNT1 implicated_via_orthology DOID:0050560 Walker-Warburg syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3649 FEM1B implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 implicated_via_orthology DOID:0110958 Gaucher's disease type II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9449 PRNP implicated_via_orthology DOID:11949 Creutzfeldt-Jakob disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31923 LCA5 implicated_via_orthology DOID:0110215 Leber congenital amaurosis 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17416 ADGRV1 implicated_via_orthology DOID:0110839 Usher syndrome type 2C ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:90 ACADS implicated_via_orthology DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9944 RDX implicated_via_orthology DOID:12308 Dubin-Johnson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26107 CFAP69 implicated_via_orthology DOID:0111929 spermatogenic failure 24 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21061 SERAC1 implicated_via_orthology DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A implicated_via_orthology DOID:2030 anxiety disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:589 ATG5 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19706 ADAMTSL4 implicated_via_orthology DOID:0111149 autosomal recessive isolated ectopia lentis 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18398 SMARCAD1 implicated_via_orthology DOID:0050592 asphyxiating thoracic dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4510 KISS1R implicated_via_orthology DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19366 PANK4 implicated_via_orthology DOID:83 cataract ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2903 DLG4 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:438 ALPL implicated_via_orthology DOID:0110914 infantile hypophosphatasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 implicated_via_orthology DOID:0050548 hereditary sensory neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4429 GOLGB1 implicated_via_orthology DOID:674 cleft palate ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2020 CLCN2 implicated_via_orthology DOID:446 primary hyperaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11003 SLC29A1 implicated_via_orthology DOID:6652 diffuse idiopathic skeletal hyperostosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4288 GJB6 implicated_via_orthology DOID:0110475 autosomal recessive nonsyndromic deafness 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21354 TICAM2 implicated_via_orthology DOID:0080599 Coronavirus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:967 BBS2 implicated_via_orthology DOID:0110124 Bardet-Biedl syndrome 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6319 KIF3A implicated_via_orthology DOID:1934 dysostosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8789 PDE6G implicated_via_orthology DOID:10584 retinitis pigmentosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:175 ACVRL1 implicated_via_orthology DOID:1270 hereditary hemorrhagic telangiectasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28996 RTF1 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 implicated_via_orthology DOID:1612 breast cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:801 ATP1A3 implicated_via_orthology DOID:0050635 alternating hemiplegia of childhood ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2478 CST6 implicated_via_orthology DOID:0060713 autosomal recessive congenital ichthyosis 4B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2019 CLCN1 implicated_via_orthology DOID:2106 myotonia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4173 GATA4 implicated_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7225 MPZ implicated_via_orthology DOID:870 neuropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18124 P2RY12 implicated_via_orthology DOID:0060692 platelet-type bleeding disorder 8 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17797 MAP3K20 implicated_via_orthology DOID:0090020 split hand-foot malformation ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11275 SPTBN1 implicated_via_orthology DOID:5572 Beckwith-Wiedemann syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10484 RYR2 implicated_via_orthology DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11120 SMPD1 implicated_via_orthology DOID:14504 Niemann-Pick disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 implicated_via_orthology DOID:0110910 leukocyte adhesion deficiency 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM implicated_via_orthology DOID:12704 ataxia telangiectasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 implicated_via_orthology DOID:0110112 atrial heart septal defect 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5172 HR implicated_via_orthology DOID:0060689 atrichia with papular lesions ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31371 GPR179 implicated_via_orthology DOID:0110869 congenital stationary night blindness 1E ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR implicated_via_orthology DOID:0050328 congenital hypothyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12587 UQCRFS1 implicated_via_orthology DOID:700 mitochondrial metabolism disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7391 MSX1 implicated_via_orthology DOID:0050591 tooth agenesis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:27424 RBM20 implicated_via_orthology DOID:0110447 dilated cardiomyopathy 1DD ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3097 DYSF implicated_via_orthology DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6487 LAMB2 implicated_via_orthology DOID:2527 nephrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16700 ZFPM2 implicated_via_orthology DOID:0080169 tricuspid atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19351 BICC1 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21353 KLHL31 implicated_via_orthology DOID:14717 centronuclear myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7095 MID1 implicated_via_orthology DOID:0080697 Opitz GBBB syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6597 LIFR implicated_via_orthology DOID:0080205 CAKUT ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:438 ALPL implicated_via_orthology DOID:0110915 childhood hypophosphatasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17795 SAV1 implicated_via_orthology DOID:684 hepatocellular carcinoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7225 MPZ implicated_via_orthology DOID:0050540 Charcot-Marie-Tooth disease type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14294 SHANK3 implicated_via_orthology DOID:0080354 Phelan-McDermid syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2183 VPS13B implicated_via_orthology DOID:0111590 Cohen syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9449 PRNP implicated_via_orthology DOID:0050433 fatal familial insomnia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25321 SHARPIN implicated_via_orthology DOID:3310 atopic dermatitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2974 DNM2 implicated_via_orthology DOID:423 myopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:745 ASIP implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:428 ALMS1 implicated_via_orthology DOID:0050473 Alstrom syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7979 NR3C2 implicated_via_orthology DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8787 PDE6C implicated_via_orthology DOID:13911 achromatopsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5212 HSD17B3 implicated_via_orthology DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3551 F9 implicated_via_orthology DOID:12259 hemophilia B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:745 ASIP implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10519 SACS implicated_via_orthology DOID:0050946 Charlevoix-Saguenay spastic ataxia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:31527 MIR140 implicated_via_orthology DOID:2256 osteochondrodysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7907 NPHP3 implicated_via_orthology DOID:898 autosomal dominant polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8853 PEX11B implicated_via_orthology DOID:905 Zellweger syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3960 FSCN2 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12406 TUB implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 implicated_via_orthology DOID:14705 Pfeiffer syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29174 WASHC4 implicated_via_orthology DOID:9169 Wiskott-Aldrich syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4137 GAN implicated_via_orthology DOID:0090068 giant axonal neuropathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11209 SP4 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11204 SOX9 implicated_via_orthology DOID:0050463 campomelic dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1608 CCR7 implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 implicated_via_orthology DOID:0050535 exudative vitreoretinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2206 COL4A4 implicated_via_orthology DOID:0110033 autosomal recessive Alport syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4162 GARS1 implicated_via_orthology DOID:0110164 Charcot-Marie-Tooth disease type 2D ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:348 AHR implicated_via_orthology DOID:9649 congenital nystagmus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1343 TRAF3IP2 implicated_via_orthology DOID:12894 Sjogren's syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4123 GALNT1 implicated_via_orthology DOID:4079 heart valve disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3595 FAT1 implicated_via_orthology DOID:1184 nephrotic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33915 STRCP1 implicated_via_orthology DOID:0110471 autosomal recessive nonsyndromic deafness 16 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2187 COL11A2 implicated_via_orthology DOID:0110545 autosomal dominant nonsyndromic deafness 13 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30346 RRN3 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:969 BBS4 implicated_via_orthology DOID:0110126 Bardet-Biedl syndrome 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29022 SPECC1L implicated_via_orthology DOID:0080698 Teebi hypertelorism syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9143 PHOX2B implicated_via_orthology DOID:0060731 congenital central hypoventilation syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8617 PAX3 implicated_via_orthology DOID:0110948 Waardenburg syndrome type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 implicated_via_orthology DOID:2842 Jervell-Lange Nielsen syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF implicated_via_orthology DOID:0060574 von Willebrand's disease 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1307 CBY1 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1385 CABP2 implicated_via_orthology DOID:0110537 autosomal recessive nonsyndromic deafness 93 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:853 ATP6V1B1 implicated_via_orthology DOID:0050332 enlarged vestibular aqueduct ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:941 BAG5 implicated_via_orthology DOID:0081162 dilated cardiomyopathy 2F ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2432 CSF1 implicated_via_orthology DOID:13533 osteopetrosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 implicated_via_orthology DOID:2738 pseudoxanthoma elasticum ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10274 RP2 implicated_via_orthology DOID:0110415 retinitis pigmentosa 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:37276 CRPPA implicated_via_orthology DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2202 COL4A1 implicated_via_orthology DOID:0090125 brain small vessel disease 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3386 EPHA2 implicated_via_orthology DOID:0110229 cataract 6 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11602 TBX3 implicated_via_orthology DOID:0060614 ulnar-mammary syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 implicated_via_orthology DOID:10140 dry eye syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14295 SHANK2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21055 MTHFD1L implicated_via_orthology DOID:0080074 neural tube defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 implicated_via_orthology DOID:10825 essential hypertension ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 implicated_via_orthology DOID:0110042 Alzheimer's disease 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5172 HR implicated_via_orthology DOID:0050634 alopecia universalis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4458 GPI implicated_via_orthology DOID:2861 congenital nonspherocytic hemolytic anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 implicated_via_orthology DOID:0110383 retinitis pigmentosa 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3192 EEF1A2 implicated_via_orthology DOID:0070068 autosomal dominant intellectual developmental disorder 38 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11063 SLC7A5 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A implicated_via_orthology DOID:0110218 Brugada syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7105 MITF implicated_via_orthology DOID:0110950 Waardenburg syndrome type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12856 YY1 implicated_via_orthology DOID:4769 pleuropulmonary blastoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 implicated_via_orthology DOID:0111252 vestibular schwannomatosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16873 FIG4 implicated_via_orthology DOID:0060589 Yunis-Varon syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3098 TOR1A implicated_via_orthology DOID:0060730 torsion dystonia 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28870 MDFIC implicated_via_orthology DOID:0081030 central conducting lymphatic anomaly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:713 ARSA implicated_via_orthology DOID:10581 metachromatic leukodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16952 TXNIP implicated_via_orthology DOID:14525 Reye syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1241 C1QA implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1912 CHAT implicated_via_orthology DOID:0110671 congenital myasthenic syndrome 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8515 OTOF implicated_via_orthology DOID:0110535 autosomal recessive nonsyndromic deafness 9 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2026 CLCNKA implicated_via_orthology DOID:0110144 Bartter disease type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1324 C4B implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11086 SLIT2 implicated_via_orthology DOID:9562 primary ciliary dyskinesia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4415 GNMT implicated_via_orthology DOID:0111037 glycine N-methyltransferase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 implicated_via_orthology DOID:0110735 neurodegeneration with brain iron accumulation 2a ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4019 FUT8 implicated_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 implicated_via_orthology DOID:14789 spondyloepiphyseal dysplasia congenita ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2383 CRX implicated_via_orthology DOID:0110333 Leber congenital amaurosis 7 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9005 PITX2 implicated_via_orthology DOID:0110120 Axenfeld-Rieger syndrome type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A implicated_via_orthology DOID:0111102 maturity-onset diabetes of the young type 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16262 YAP1 implicated_via_orthology DOID:0050795 cone dystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:32523 NCF1C implicated_via_orthology DOID:3265 chronic granulomatous disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5541 IGHM implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18142 DAAM1 implicated_via_orthology DOID:0060036 intrinsic cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:14375 PPP1R15A implicated_via_orthology DOID:10241 thalassemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16400 NLRP3 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21336 RNF146 implicated_via_orthology DOID:2256 osteochondrodysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 implicated_via_orthology DOID:1206 Rett syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21711 ZNF804A implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10887 SIX1 implicated_via_orthology DOID:14702 branchiootorenal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15626 FCGR2C implicated_via_orthology DOID:12365 malaria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11056 SLC6A9 implicated_via_orthology DOID:9268 glycine encephalopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3680 FGF23 implicated_via_orthology DOID:0050948 autosomal dominant hypophosphatemic rickets ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4421 GNRHR implicated_via_orthology DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 implicated_via_orthology DOID:12387 nephrogenic diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25839 GRHL3 implicated_via_orthology DOID:0060239 Van der Woude syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4598 GRM6 implicated_via_orthology DOID:0110865 congenital stationary night blindness 1B ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH implicated_via_orthology DOID:0110875 holoprosencephaly 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28862 NIPBL implicated_via_orthology DOID:0080505 Cornelia de Lange syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7198 MORC1 implicated_via_orthology DOID:1595 melancholic depression ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11272 SPTA1 implicated_via_orthology DOID:10923 sickle cell anemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4281 GJA8 implicated_via_orthology DOID:0110231 cataract 1 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS implicated_via_orthology DOID:4183 pseudopseudohypoparathyroidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2398 CRYBB2 implicated_via_orthology DOID:0110269 cataract 3 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12765 FOXN1 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21497 ACAD9 implicated_via_orthology DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4283 GJB1 implicated_via_orthology DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28127 CPLANE2 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 implicated_via_orthology DOID:12716 newborn respiratory distress syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5099 HOXA1 implicated_via_orthology DOID:0050682 Athabaskan brainstem dysgenesis syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF implicated_via_orthology DOID:0110497 autosomal recessive nonsyndromic deafness 39 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:496 RIPK4 implicated_via_orthology DOID:0060055 popliteal pterygium syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6354 KLHL3 implicated_via_orthology DOID:4479 pseudohypoaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18746 SLURP1 implicated_via_orthology DOID:0060862 mal de Meleda ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 implicated_via_orthology DOID:12347 osteogenesis imperfecta ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4125 GALNT3 implicated_via_orthology DOID:0111063 hyperphosphatemic familial tumoral calcinosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2209 COL5A1 implicated_via_orthology DOID:14720 Ehlers-Danlos syndrome classic type 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B implicated_via_orthology DOID:0070042 Coffin-Siris syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9984 RFX3 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4887 HJV implicated_via_orthology DOID:0111027 hemochromatosis type 2A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4829 HBD implicated_via_orthology DOID:12241 beta thalassemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13478 UBE3B implicated_via_orthology DOID:0111456 Kaufman oculocerebrofacial syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3498 MECOM implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25135 LRSAM1 implicated_via_orthology DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19737 TNS2 implicated_via_orthology DOID:0060852 Pierson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21228 BTBD9 implicated_via_orthology DOID:0050425 restless legs syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5299 HTR4 implicated_via_orthology DOID:8689 anorexia nervosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29557 NEXN implicated_via_orthology DOID:0110424 dilated cardiomyopathy 1CC ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2499 CTF1 implicated_via_orthology DOID:9352 type 2 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29250 WDR35 implicated_via_orthology DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10696 EXOC5 implicated_via_orthology DOID:0070314 obstructive nephropathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11448 SUCLA2 implicated_via_orthology DOID:0080124 mitochondrial DNA depletion syndrome 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10820 SH2D1A implicated_via_orthology DOID:0060705 X-linked lymphoproliferative syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15999 SELENON implicated_via_orthology DOID:0110633 rigid spine muscular dystrophy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP implicated_via_orthology DOID:0050711 aceruloplasminemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG implicated_via_orthology DOID:0050908 myelodysplastic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 implicated_via_orthology DOID:13317 hyperinsulinemic hypoglycemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29529 TBL1XR1 implicated_via_orthology DOID:0081362 Pierpont syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30497 KIF7 implicated_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5147 HPD implicated_via_orthology DOID:0050727 tyrosinemia type III ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:33499 ATRIP implicated_via_orthology DOID:0050569 Seckel syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7372 MSMB implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8617 PAX3 implicated_via_orthology DOID:0080074 neural tube defect ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:42398 C4B_2 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16361 WHRN implicated_via_orthology DOID:0110840 Usher syndrome type 2D ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7632 NAGLU implicated_via_orthology DOID:10754 otitis media ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29917 MDM1 implicated_via_orthology DOID:10871 age related macular degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:694 ARL3 implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:25244 CCDC39 implicated_via_orthology DOID:0110598 primary ciliary dyskinesia 14 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 implicated_via_orthology DOID:9245 Alagille syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6487 LAMB2 implicated_via_orthology DOID:0060852 Pierson syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2201 COL3A1 implicated_via_orthology DOID:14756 vascular type Ehlers-Danlos syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2760 DEF6 implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2410 CRYGC implicated_via_orthology DOID:0110235 cataract 2 multiple types ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7974 NR2E3 implicated_via_orthology DOID:0090059 enhanced S-cone syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:119 ACOX1 implicated_via_orthology DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 implicated_via_orthology DOID:3613 Canavan disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30391 IFT172 implicated_via_orthology DOID:8466 retinal degeneration ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH implicated_via_orthology DOID:446 primary hyperaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15977 HES7 implicated_via_orthology DOID:0050568 spondylocostal dysostosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 implicated_via_orthology DOID:0110629 Wolfram syndrome 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29017 PLEKHM1 implicated_via_orthology DOID:0110945 autosomal recessive osteopetrosis 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA implicated_via_orthology DOID:0110425 dilated cardiomyopathy 1A ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5213 HSD17B4 implicated_via_orthology DOID:0090031 D-bifunctional protein deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8549 BLOC1S6 implicated_via_orthology DOID:9675 pulmonary emphysema ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16472 SLC45A2 implicated_via_orthology DOID:0050632 oculocutaneous albinism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4696 GUSB implicated_via_orthology DOID:12803 Sly syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1736 CDC42 implicated_via_orthology DOID:674 cleft palate ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 implicated_via_orthology DOID:446 primary hyperaldosteronism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:17146 ARL2BP implicated_via_orthology DOID:0110419 retinitis pigmentosa with or without situs inversus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:34 ABCA4 implicated_via_orthology DOID:0110354 retinitis pigmentosa 19 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18234 MOCOS implicated_via_orthology DOID:0070453 xanthinuria type II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1811 CDYL implicated_via_orthology DOID:1826 epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11233 SPAST implicated_via_orthology DOID:0110792 hereditary spastic paraplegia 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 implicated_via_orthology DOID:14330 Parkinson's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4689 GUCY2D implicated_via_orthology DOID:0110078 Leber congenital amaurosis 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6847 MAP2K7 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:854 ATP6V1B2 implicated_via_orthology DOID:0080720 autosomal dominant congenital deafness with onychodystrophy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2277 COX6A1 implicated_via_orthology DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6931 MC3R implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5102 HOXA13 implicated_via_orthology DOID:0060739 hand-foot-genital syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18708 GRIP1 implicated_via_orthology DOID:0060642 recessive dystrophic epidermolysis bullosa ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12592 UROS implicated_via_orthology DOID:13271 cutaneous porphyria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15597 HPS3 implicated_via_orthology DOID:0060541 Hermansky-Pudlak syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS implicated_via_orthology DOID:9744 type 1 diabetes mellitus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A implicated_via_orthology DOID:0050990 episodic ataxia type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28741 ILDR1 implicated_via_orthology DOID:0110500 autosomal recessive nonsyndromic deafness 42 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN implicated_via_orthology DOID:12387 nephrogenic diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 implicated_via_orthology DOID:0110350 osteogenesis imperfecta type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10472 RUNX2 implicated_via_orthology DOID:13994 cleidocranial dysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3330 EML1 implicated_via_orthology DOID:0111169 subcortical band heterotopia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 implicated_via_orthology DOID:3827 congenital diaphragmatic hernia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 implicated_via_orthology DOID:11054 urinary bladder cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:626 APRT implicated_via_orthology DOID:0060350 adenine phosphoribosyltransferase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8743 PCSK1 implicated_via_orthology DOID:28 endocrine system disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23785 PIKFYVE implicated_via_orthology DOID:8778 Crohn's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11018 SLC32A1 implicated_via_orthology DOID:3328 temporal lobe epilepsy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:217 ADAMTS1 implicated_via_orthology DOID:5200 urinary tract obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR implicated_via_orthology DOID:9521 Laron syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16912 EMG1 implicated_via_orthology DOID:0050684 Bowen-Conradi syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8988 PIN1 implicated_via_orthology DOID:10652 Alzheimer's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 implicated_via_orthology DOID:0060583 Noonan syndrome 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 implicated_via_orthology DOID:0110291 Leber congenital amaurosis 10 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1090 DST implicated_via_orthology DOID:0070151 hereditary sensory and autonomic neuropathy type 6 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7545 MYB implicated_via_orthology DOID:2224 essential thrombocythemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2328 CPT1A implicated_via_orthology DOID:0090129 carnitine palmitoyltransferase I deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12009 TPI1 implicated_via_orthology DOID:0050884 triosephosphate isomerase deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2230 COPA implicated_via_orthology DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11086 SLIT2 implicated_via_orthology DOID:0050545 visceral heterotaxy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B implicated_via_orthology DOID:9074 systemic lupus erythematosus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6974 MDM4 implicated_via_orthology DOID:12930 dilated cardiomyopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15464 SPINK5 implicated_via_orthology DOID:0050474 Netherton syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:28303 ODAD3 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29010 SETD1A implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:21708 CCM2 implicated_via_orthology DOID:0060670 cerebral cavernous malformation 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5389 IDS implicated_via_orthology DOID:12799 mucopolysaccharidosis II ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12422 TUFT1 implicated_via_orthology DOID:3390 palmoplantar keratosis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7678 NDP implicated_via_orthology DOID:0050535 exudative vitreoretinopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19104 NPHP4 implicated_via_orthology DOID:0111115 nephronophthisis 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7788 NFIX implicated_via_orthology DOID:13300 Scheuermann's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29088 PDS5A implicated_via_orthology DOID:11725 Cornelia de Lange syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3169 S1PR2 implicated_via_orthology DOID:0060060 non-Hodgkin lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9325 PPT1 implicated_via_orthology DOID:0110731 neuronal ceroid lipofuscinosis 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:24525 MMACHC implicated_via_orthology DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2927 DMC1 implicated_via_orthology DOID:0050457 Sertoli cell-only syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:16809 SMURF2 implicated_via_orthology DOID:0050745 diffuse large B-cell lymphoma ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2942 DNAH11 implicated_via_orthology DOID:0050144 Kartagener syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5104 HOXA3 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6240 KCNE1 implicated_via_orthology DOID:2842 Jervell-Lange Nielsen syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4879 HEXB implicated_via_orthology DOID:3323 Sandhoff disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:42000 ARMCX5-GPRASP2 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 implicated_via_orthology DOID:8354 complement component 3 deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12731 WAS implicated_via_orthology DOID:9169 Wiskott-Aldrich syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29797 NUP35 implicated_via_orthology DOID:0080072 intestinal pseudo-obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2310 CPLX2 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7711 NDUFS4 implicated_via_orthology DOID:3652 Leigh disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 implicated_via_orthology DOID:0060849 osteoporosis-pseudoglioma syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3052 DSP implicated_via_orthology DOID:0090128 Carvajal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7720 NEB implicated_via_orthology DOID:0110928 nemaline myopathy 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18652 VPS54 implicated_via_orthology DOID:13137 Werdnig-Hoffmann disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT implicated_via_orthology DOID:10591 pre-eclampsia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:26259 ZC3H12A implicated_via_orthology DOID:12236 primary biliary cholangitis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:30666 VHLL implicated_via_orthology DOID:14175 von Hippel-Lindau disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 implicated_via_orthology DOID:12347 osteogenesis imperfecta ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7652 NBN implicated_via_orthology DOID:5603 T-cell acute lymphoblastic leukemia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7668 NCOA1 implicated_via_orthology DOID:11633 thyroid hormone resistance syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF implicated_via_orthology DOID:10487 Hirschsprung's disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4597 GRM5 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 implicated_via_orthology DOID:0110320 hypertrophic cardiomyopathy 14 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9118 PMP22 implicated_via_orthology DOID:0110153 Charcot-Marie-Tooth disease type 1E ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2185 COL10A1 implicated_via_orthology DOID:0080021 Schmid metaphyseal chondrodysplasia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13681 DCHS1 implicated_via_orthology DOID:988 mitral valve prolapse ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11389 STK11 implicated_via_orthology DOID:1380 endometrial cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8786 PDE6B implicated_via_orthology DOID:0110863 congenital stationary night blindness autosomal dominant 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3971 FST implicated_via_orthology DOID:0060762 restrictive dermopathy ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10912 SLC12A3 implicated_via_orthology DOID:0050450 Gitelman syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 implicated_via_orthology DOID:12347 osteogenesis imperfecta ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2027 CLCNKB implicated_via_orthology DOID:12387 nephrogenic diabetes insipidus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29433 NEXMIF implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:746 ASL implicated_via_orthology DOID:14755 argininosuccinic aciduria ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11772 TGFBR1 implicated_via_orthology DOID:8398 osteoarthritis ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF implicated_via_orthology DOID:0060233 cardiofaciocutaneous syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 implicated_via_orthology DOID:3883 Lynch syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:8574 PAFAH1B1 implicated_via_orthology DOID:0060469 Miller-Dieker lissencephaly syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6158 ITGB4 implicated_via_orthology DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP implicated_via_orthology DOID:0060611 abdominal obesity-metabolic syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 implicated_via_orthology DOID:0050879 fragile X-associated tremor/ataxia syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:29022 SPECC1L implicated_via_orthology DOID:674 cleft palate ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP implicated_via_orthology DOID:0110083 arrhythmogenic right ventricular dysplasia 12 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:5057 TLX2 implicated_via_orthology DOID:0080072 intestinal pseudo-obstruction ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2718 DDB2 implicated_via_orthology DOID:0110846 xeroderma pigmentosum group E ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:23631 NPSR1 implicated_via_orthology DOID:535 sleep disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 implicated_via_orthology DOID:0060866 patterned macular dystrophy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 implicated_via_orthology DOID:2736 Hajdu-Cheney syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 implicated_via_orthology DOID:11198 DiGeorge syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4394 GNAT2 implicated_via_orthology DOID:0110010 achromatopsia 4 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12000 TP53BP2 implicated_via_orthology DOID:0060412 chromosome 1q41-q42 deletion syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL implicated_via_orthology DOID:0090118 congenital amegakaryocytic thrombocytopenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS implicated_via_orthology DOID:0060581 Noonan syndrome 3 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19412 ZMYND10 implicated_via_orthology DOID:0110597 primary ciliary dyskinesia 22 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1602 CCR1 implicated_via_orthology DOID:0080599 Coronavirus infectious disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:1968 LYST implicated_via_orthology DOID:2223 platelet storage pool deficiency ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15505 MBOAT7 implicated_via_orthology DOID:10908 hydrocephalus ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:15710 LDB3 implicated_via_orthology DOID:0080092 myofibrillar myopathy 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3519 EYA1 implicated_via_orthology DOID:14702 branchiootorenal syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13315 HDAC8 implicated_via_orthology DOID:0080509 Cornelia de Lange syndrome 5 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:583 APC implicated_via_orthology DOID:2394 ovarian cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18179 VPS33A implicated_via_orthology DOID:3753 Hermansky-Pudlak syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18996 VRK3 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19351 BICC1 implicated_via_orthology DOID:0110861 autosomal recessive polycystic kidney disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3098 TOR1A implicated_via_orthology DOID:0050836 focal dystonia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:4416 GNPAT implicated_via_orthology DOID:0110852 rhizomelic chondrodysplasia punctata type 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10524 SALL1 implicated_via_orthology DOID:0050887 Townes-Brocks syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:12440 TYK2 implicated_via_orthology DOID:9970 obesity ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7838 NKX3-1 implicated_via_orthology DOID:10283 prostate cancer ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:10825 SH3BP2 implicated_via_orthology DOID:1856 cherubism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 implicated_via_orthology DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3436 ERCC4 implicated_via_orthology DOID:0110848 xeroderma pigmentosum group F ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:6086 INSL3 implicated_via_orthology DOID:11383 cryptorchidism ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A implicated_via_orthology DOID:0110477 autosomal recessive nonsyndromic deafness 2 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11634 TCF4 implicated_via_orthology DOID:0060488 Pitt-Hopkins syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A implicated_via_orthology DOID:1925 Coffin-Siris syndrome ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:7944 NPR2 implicated_via_orthology DOID:0080050 acromesomelic dysplasia, Maroteaux type ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:3133 EBP implicated_via_orthology DOID:0060292 X-linked chondrodysplasia punctata 1 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 implicated_via_orthology DOID:1682 congenital heart disease ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:11631 TCF20 implicated_via_orthology DOID:0060041 autism spectrum disorder ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R implicated_via_orthology DOID:0090120 hereditary neutrophilia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:19744 SRGAP3 implicated_via_orthology DOID:5419 schizophrenia ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:682 ARHGEF2 implicated_via_orthology DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:13487 VPS35 implicated_via_orthology DOID:0060897 Parkinson's disease 17 ECO:0000501 evidence used in automatic assertion MGI:6194238 20240226 Alliance NCBITaxon:9606 Homo sapiens gene HGNC:18194 ZNF365 is_implicated_in DOID:580 uric acid nephrolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220413 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12830 XRCC3 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17675 XPO5 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22539802 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33765714 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17009149 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26434847 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27686263 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22580644 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22549274 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15800946 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27221877 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25227862 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22524842 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26559 ZFYVE27 is_implicated_in DOID:0110784 hereditary spastic paraplegia 33 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23984316 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23534753 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22502666 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24526467 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19194663 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23454624 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23493666 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26918371 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24446299 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24634229 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14519756 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29935355 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32334466 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28058700 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24570146 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29682247 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28927037 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30696 WDR36 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15677485 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30696 WDR36 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16723468 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12843 YME1L1 is_implicated_in DOID:0111436 optic atrophy 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_implicated_in DOID:0050957 spinocerebellar ataxia type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12831 XRCC4 is_implicated_in DOID:0050904 salivary gland carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26035306 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17675 XPO5 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24648983 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26993 ZSWIM7 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12833 XRCC5 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20463177 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16700 ZFPM2 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15705784 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14543 WNK3 is_implicated_in DOID:0060805 Prieto syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15516 XYLT1 is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16637072 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15750593 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12830 XRCC3 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18712175 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_implicated_in DOID:0080383 nephrotic syndrome type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12791 WRN is_implicated_in DOID:5688 Werner syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16673358 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12791 WRN is_implicated_in DOID:5688 Werner syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17630853 20220110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16796765 20220110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27356695 20220110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24175791 20220110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29108254 20220110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12830 XRCC3 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18559563 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:0060108 brain glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18330515 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24249 YARS2 is_implicated_in DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12780 WNT2 is_implicated_in DOID:3996 urinary system cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8064891 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_implicated_in DOID:3764 Denys-Drash syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_implicated_in DOID:3764 Denys-Drash syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12161615 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:0110629 Wolfram syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180919 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18272472 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18765423 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:127 leiomyoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15760950 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29277 ZNF687 is_implicated_in DOID:0081369 Paget's disease of bone 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_not_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15705867 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20041 ZNF408 is_implicated_in DOID:0110395 retinitis pigmentosa 72 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:5517 stomach carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20863780 20211216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14881 ZEB2 is_implicated_in DOID:0060485 Mowat-Wilson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12874 ZIC3 is_implicated_in DOID:0050545 visceral heterotaxy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12873 ZIC2 is_implicated_in DOID:0110878 holoprosencephaly 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12791 WRN is_not_implicated_in DOID:9669 senile cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20808731 20150512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28912 WDR45 is_implicated_in DOID:0110739 neurodegeneration with brain iron accumulation 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16361 WHRN is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12833159 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16740 ZBTB11 is_implicated_in DOID:0081230 autosomal recessive intellectual developmental disorder 69 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30238 WLS is_implicated_in DOID:0070473 Zaki syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18040659 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21713316 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12107816 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11916957 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12858 ZAP70 is_implicated_in DOID:0111943 immunodeficiency 48 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19157633 20220120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25308691 20220120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23549037 20220120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24782167 20220120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26097609 20220120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24446315 20220120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15301704 20220120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22152690 20220120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26345972 20220120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19958624 20220120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26600 WDR81 is_implicated_in DOID:10908 hydrocephalus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19061777 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16652158 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25038912 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24935603 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17952468 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17531525 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25584213 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27323144 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17675 XPO5 is_implicated_in DOID:5426 primary ovarian insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23549446 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12816 XPC is_implicated_in DOID:3114 serous cystadenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21751198 20150924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12872 ZIC1 is_implicated_in DOID:2340 craniosynostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20003463 20220120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11104903 20220120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12816 XPC is_implicated_in DOID:0050427 xeroderma pigmentosum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8298653 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14303 XIRP2 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:592 XIAP is_implicated_in DOID:0060706 X-linked lymphoproliferative syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29935355 20191115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23454624 20191115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24018491 20191115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12799 WWOX is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11956080 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18060660 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12830 XRCC3 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23534771 20231024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12778 WNT9A is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772397 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3969 thyroid gland papillary carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19286843 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24502 WDR62 is_implicated_in DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24502 WDR62 is_implicated_in DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26577670 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24502 WDR62 is_implicated_in DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21496009 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24502 WDR62 is_implicated_in DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21961505 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3565 meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18330515 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18475 ZDHHC9 is_implicated_in DOID:0060824 syndromic X-linked intellectual disability Raymond type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12830 XRCC3 is_implicated_in DOID:3620 central nervous system cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23534771 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12786 WNT7A is_implicated_in DOID:0090067 Fuhrmann syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14544 WNK4 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15110905 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12799 WWOX is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11956080 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30654 XRN1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22984654 20160816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9669 senile cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21599457 20150924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12783 WNT4 is_implicated_in DOID:0111526 Mullerian aplasia and hyperandrogenism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16966 ZMYND11 is_implicated_in DOID:0070060 autosomal dominant intellectual developmental disorder 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23595122 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11709537 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12107816 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17593927 20220117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27706710 20220117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23604281 20220117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27221877 20220117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21378360 20220117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23983608 20220117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26770441 20220117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20331623 20220117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH is_implicated_in DOID:0070452 xanthinuria type I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9153281 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH is_implicated_in DOID:0070452 xanthinuria type I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12836 XRN2 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19915612 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:12549 hepatitis A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29558945 20191115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:12549 hepatitis A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22135187 20191115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26600 WDR81 is_implicated_in DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23454624 20191115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12775 WNT10B is_implicated_in DOID:0090026 split hand-foot malformation 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12829 XRCC2 is_implicated_in DOID:0112272 spermatogenic failure 50 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210113 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12799 WWOX is_implicated_in DOID:0080452 developmental and epileptic encephalopathy 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23019 ZRSR2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25550361 20220118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23019 ZRSR2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32027246 20220118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19412 ZMYND10 is_implicated_in DOID:0110597 primary ciliary dyskinesia 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12816 XPC is_implicated_in DOID:0110844 xeroderma pigmentosum group C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20761 ZFYVE26 is_implicated_in DOID:0110768 hereditary spastic paraplegia 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28356949 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25710005 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27123143 20220124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23019 ZRSR2 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28220884 20220118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23019 ZRSR2 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25586593 20220118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23019 ZRSR2 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28942350 20220118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23019 ZRSR2 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22343920 20220118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24502 WDR62 is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25303973 20161006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24502 WDR62 is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22308068 20161006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15992 ZNF341 is_implicated_in DOID:0080595 hyper IgE recurrent infection syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:1790 malignant mesothelioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22982660 20220120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12814 XPA is_implicated_in DOID:0110843 xeroderma pigmentosum group A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21143 ZBTB24 is_implicated_in DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25489 YEATS2 is_implicated_in DOID:0111693 familial adult myoclonic epilepsy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191225 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_not_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17425776 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12858 ZAP70 is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8124727 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17675 XPO5 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24676133 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12830 XRCC3 is_implicated_in DOID:0060108 brain glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18330515 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21983886 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19101034 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:2600 laryngeal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24956286 20220118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:2600 laryngeal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27808358 20220118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_implicated_in DOID:0050438 Frasier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12833 XRCC5 is_implicated_in DOID:1993 rectum cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26735576 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:0080584 autosomal dominant Wolfram syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12874 ZIC3 is_implicated_in DOID:0111766 X-linked VACTERL association ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26790 WDR72 is_implicated_in DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16510122 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24502 WDR62 is_implicated_in DOID:0080918 polymicrogyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21834044 20161006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15517 XYLT2 is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14540 WNK1 is_implicated_in DOID:4479 pseudohypoaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11498583 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14540 WNK1 is_implicated_in DOID:4479 pseudohypoaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30472145 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17675 XPO5 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21799879 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17491266 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12833 XRCC5 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17901044 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12930 ZBTB16 is_implicated_in DOID:0060318 acute promyelocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8387545 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12823 XPNPEP2 is_implicated_in DOID:0080941 acquired angioedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30696 WDR36 is_implicated_in DOID:1686 glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17960130 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30696 WDR36 is_implicated_in DOID:1686 glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22025897 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30696 WDR36 is_implicated_in DOID:1686 glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19347049 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14540 WNK1 is_implicated_in DOID:0050548 hereditary sensory neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15060842 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14881 ZEB2 is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11279515 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12872 ZIC1 is_implicated_in DOID:2785 Dandy-Walker syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15338008 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:2773 contact dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23375119 20211228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_not_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26482462 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12791 WRN is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9021029 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:10632 Wolfram syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9771706 20070215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17675 XPO5 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26147304 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12877 ZMPSTE24 is_implicated_in DOID:0070369 restrictive dermopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3068 glioblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18330515 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15807 ZNF335 is_implicated_in DOID:0070294 primary autosomal recessive microcephaly 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28052 XPNPEP3 is_implicated_in DOID:0111117 nephronophthisis-like nephropathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12829 XRCC2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17986315 20100407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12829 XRCC2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16540687 20100407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12831 XRCC4 is_implicated_in DOID:4866 salivary gland adenoid cystic carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26035306 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29316 ZSWIM6 is_implicated_in DOID:0060342 acromelic frontonasal dysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29271 ZNFX1 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12830 XRCC3 is_implicated_in DOID:6846 familial melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20758 ZFYVE19 is_implicated_in DOID:0070221 progressive familial intrahepatic cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220518 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:1875 impotence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18582155 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13829 WNT10A is_implicated_in DOID:0050591 tooth agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25928 WDR73 is_implicated_in DOID:0060364 Galloway-Mowat syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190313 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12831 XRCC4 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17901044 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12776 WNT11 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21393552 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12791 WRN is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19205873 20150512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12791 WRN is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17301258 20150512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32550 ZBTB42 is_implicated_in DOID:0060558 lethal congenital contracture syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_implicated_in DOID:2154 nephroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8381965 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_implicated_in DOID:2154 nephroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19908066 20220116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12816 XPC is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18559563 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12873 ZIC2 is_implicated_in DOID:4621 holoprosencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22847929 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12873 ZIC2 is_implicated_in DOID:4621 holoprosencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9771712 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26993 ZSWIM7 is_implicated_in DOID:14450 46 XX gonadal dysgenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32653938 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12786 WNT7A is_implicated_in DOID:0112181 Schinzel type phocomelia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_not_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15008830 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14544 WNK4 is_implicated_in DOID:4479 pseudohypoaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14544 WNK4 is_implicated_in DOID:4479 pseudohypoaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11498583 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14540 WNK1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16301342 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12830 XRCC3 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23368530 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:6270 gastric cardia carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20863780 20211216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10679252 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12756 WDR4 is_implicated_in DOID:0080694 Galloway-Mowat syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12840 YARS1 is_implicated_in DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12877 ZMPSTE24 is_implicated_in DOID:0081129 mandibuloacral dysplasia type B lipodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16700 ZFPM2 is_implicated_in DOID:3827 congenital diaphragmatic hernia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12799 WWOX is_implicated_in DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12309 ZNHIT3 is_implicated_in DOID:0080539 PEHO syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12830 XRCC3 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17131345 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23534771 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12781 WNT2B is_implicated_in DOID:0060774 congenital diarrhea ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25529925 20230928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:0080260 autosomal recessive spinocerebellar ataxia 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30696 WDR36 is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16876519 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18410 ZNF292 is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14540 WNK1 is_implicated_in DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12874 ZIC3 is_implicated_in DOID:758 situs inversus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9354794 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12830 XRCC3 is_implicated_in DOID:3565 meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18330515 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12775 WNT10B is_implicated_in DOID:0050591 tooth agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13829 WNT10A is_implicated_in DOID:0111647 Schopf-Schulz-Passarge syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12782 WNT3 is_implicated_in DOID:0112192 tetraamelia syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200624 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20997 ZMYND15 is_implicated_in DOID:0070179 spermatogenic failure 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3008 invasive ductal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18752184 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18199464 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12827 XPR1 is_implicated_in DOID:0060230 basal ganglia calcification ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_not_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29935355 20191115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13030 ZBTB18 is_implicated_in DOID:0070052 autosomal dominant intellectual developmental disorder 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12852 YWHAG is_implicated_in DOID:0080282 developmental and epileptic encephalopathy 56 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23192612 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:6271 gastric cardia adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16890595 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25134915 20200224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12780 WNT2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28328801 20190524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16520463 20100331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26482462 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12799 WWOX is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13054 ZMYM3 is_implicated_in DOID:0050776 non-syndromic X-linked intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230726 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12774 WNT1 is_implicated_in DOID:0110347 osteogenesis imperfecta type 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24315498 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23595122 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12774 WNT1 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24931 ZC4H2 is_implicated_in DOID:0060815 Miles-Carpenter syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200826 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15662 ZPBP is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20152 ZFHX2 is_implicated_in DOID:0081075 Marsili syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200311 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16361 WHRN is_implicated_in DOID:0110840 Usher syndrome type 2D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28905 YRDC is_implicated_in DOID:0080694 Galloway-Mowat syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32653938 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19899 ZFAT is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12811 XK is_implicated_in DOID:74 hematopoietic system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8004674 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12814 XPA is_implicated_in DOID:0050427 xeroderma pigmentosum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2234061 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18712049 20130723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31406 WDR37 is_implicated_in DOID:0111675 neurooculocardiogenitourinary syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200219 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12791 WRN is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11186893 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15516 XYLT1 is_implicated_in DOID:0060462 Desbuquois dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12756 WDR4 is_implicated_in DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24502 WDR62 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24479948 20161006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13829 WNT10A is_implicated_in DOID:2121 ectodermal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19101034 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12829 XRCC2 is_implicated_in DOID:0080874 primary ovarian insufficiency 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210113 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:0110241 cataract 41 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19266243 20100315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23216 ZNF469 is_implicated_in DOID:14775 brittle cornea syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20041 ZNF408 is_implicated_in DOID:0111410 exudative vitreoretinopathy 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12805 XDH is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18712049 20130723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12811 XK is_implicated_in DOID:0112107 McLeod syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11642 ZEB1 is_implicated_in DOID:11555 Fuchs' endothelial dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15516 XYLT1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16759312 20090910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12789 WNT8B is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20972907 20170330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12836 XRN2 is_implicated_in DOID:0080202 adenoid cystic carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21692051 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11642 ZEB1 is_implicated_in DOID:0110857 posterior polymorphous corneal dystrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12829 XRCC2 is_implicated_in DOID:0111085 Fanconi anemia complementation group U ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29222 ZNF644 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_not_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11400117 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12775 WNT10B is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16477437 20080829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26498 ZNF513 is_implicated_in DOID:0110362 retinitis pigmentosa 58 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30472145 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12791 WRN is_implicated_in DOID:9669 senile cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23334603 20150512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12877 ZMPSTE24 is_implicated_in DOID:0060762 restrictive dermopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16297189 20150513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:9655 oral mucosa leukoplakia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17290401 20140425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:777 ZFHX3 is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26250462 20160531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20509 ZC3H14 is_implicated_in DOID:0081217 autosomal recessive intellectual developmental disorder 56 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16762 ZNF423 is_implicated_in DOID:0111122 nephronophthisis 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28821857 20231024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12796 WT1 is_implicated_in DOID:1790 malignant mesothelioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:0111441 optic atrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21538838 20140115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13128 ZNF711 is_implicated_in DOID:0112046 non-syndromic X-linked intellectual disability 97 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24345911 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16700 ZFPM2 is_implicated_in DOID:0111770 46,XY sex reversal 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:5723 optic atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23595122 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12762 WFS1 is_implicated_in DOID:0110584 autosomal dominant nonsyndromic deafness 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:3620 central nervous system cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23534771 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28638257 20211223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12830 XRCC3 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25529925 20230928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16361 WHRN is_implicated_in DOID:0110490 autosomal recessive nonsyndromic deafness 31 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25522 WRAP53 is_implicated_in DOID:0070019 autosomal recessive dyskeratosis congenita 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16262 YAP1 is_implicated_in DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17675 XPO5 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21552306 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:4440 seminoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16596238 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12780 WNT2 is_implicated_in DOID:3459 breast carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7903963 20080402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12828 XRCC1 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18851872 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12784 WNT5A is_implicated_in DOID:0060766 autosomal dominant Robinow syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180131 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 is_implicated_in DOID:13884 sick sinus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210811 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23719 PGAP3 is_implicated_in DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18340 WDR19 is_implicated_in DOID:0080806 cranioectodermal dysplasia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18079692 20140116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17188046 20140116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16785854 20140116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17063 RAB3GAP1 is_implicated_in DOID:0110716 Warburg micro syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180228 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4531 OXGR1 is_implicated_in DOID:0080652 calcium oxalate nephrolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230531 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18084 TRPV3 is_implicated_in DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200826 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7976 NR2F2 is_implicated_in DOID:0080943 46,XX sex reversal 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9181 POLH is_implicated_in DOID:0110847 xeroderma pigmentosum variant type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_not_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26834482 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_not_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26068031 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12513 UCHL1 is_implicated_in DOID:0112344 hereditary spastic paraplegia 79B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 is_implicated_in DOID:0060249 scoliosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18794762 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8636 PC is_implicated_in DOID:3651 pyruvate carboxylase deficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9585612 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8636 PC is_implicated_in DOID:3651 pyruvate carboxylase deficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 is_implicated_in DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16358215 20130426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_implicated_in DOID:0110876 holoprosencephaly 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30242 TUSC3 is_implicated_in DOID:0081183 autosomal recessive intellectual developmental disorder 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11764 TG is_not_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18656705 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20576771 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20606025 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:11963 esophagitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20811626 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:114 heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15612980 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10257 ROR2 is_implicated_in DOID:0110969 brachydactyly type B1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24954533 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10257 ROR2 is_implicated_in DOID:0110969 brachydactyly type B1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23238279 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10257 ROR2 is_implicated_in DOID:0110969 brachydactyly type B1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21377971 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10257 ROR2 is_implicated_in DOID:0110969 brachydactyly type B1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19461659 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10257 ROR2 is_implicated_in DOID:0110969 brachydactyly type B1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25696018 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10257 ROR2 is_implicated_in DOID:0110969 brachydactyly type B1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7905 NPHP1 is_implicated_in DOID:0111112 nephronophthisis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7905 NPHP1 is_implicated_in DOID:0111112 nephronophthisis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16762963 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7905 NPHP1 is_implicated_in DOID:0111112 nephronophthisis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18076122 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7905 NPHP1 is_implicated_in DOID:0111112 nephronophthisis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21258817 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7905 NPHP1 is_implicated_in DOID:0111112 nephronophthisis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22982934 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10588 SCN2A is_implicated_in DOID:0081116 benign familial infantile seizures 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10588 SCN2A is_implicated_in DOID:0081116 benign familial infantile seizures 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16417554 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS is_implicated_in DOID:14557 primary pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32236489 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_implicated_in DOID:0112182 mismatch repair cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_implicated_in DOID:4648 familial retinoblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17096365 20140304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23049825 20140225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18162502 20130321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23251491 20130321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18270681 20130321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22533231 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26370156 20220627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:11612 polycystic ovary syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24078159 20170908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19070 THOC1 is_implicated_in DOID:0050564 autosomal dominant nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0111907 thrombophilia due to thrombin defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231108 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1068 juvenile glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16401791 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1068 juvenile glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17893664 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1068 juvenile glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1068 juvenile glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17893668 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1068 juvenile glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19234343 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1068 juvenile glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20806035 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1068 juvenile glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23886590 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1068 juvenile glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23566828 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1068 juvenile glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23517641 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1068 juvenile glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19784393 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1068 juvenile glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9792882 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1068 juvenile glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12442283 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11776 TGIF1 is_implicated_in DOID:4621 holoprosencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10835638 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11582 TBCE is_implicated_in DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11425 STS is_implicated_in DOID:1700 X-linked ichthyosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10294 RPE65 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21654732 20140918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11828340 20121130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18514 SPART is_implicated_in DOID:0050886 Troyer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16378 OTOA is_implicated_in DOID:0110480 autosomal recessive nonsyndromic deafness 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18444911 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11774269 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9608 PTH1R is_implicated_in DOID:0060387 chondrodysplasia Blomstrand type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10910 SLC12A1 is_implicated_in DOID:445 Bartter disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8640224 20070503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11190 SOX10 is_implicated_in DOID:0110956 Waardenburg syndrome type 2E ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25817900 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11190 SOX10 is_implicated_in DOID:0110956 Waardenburg syndrome type 2E ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21965087 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11190 SOX10 is_implicated_in DOID:0110956 Waardenburg syndrome type 2E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9906 RBFOX2 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26785492 20230601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:12271 aniridia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20664694 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:12271 aniridia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22171157 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:12271 aniridia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19862335 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:12271 aniridia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22815628 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:12271 aniridia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23734086 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:12271 aniridia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25366758 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:12271 aniridia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22550392 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:12271 aniridia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9138149 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:12271 aniridia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:12271 aniridia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22393272 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11584 TBK1 is_implicated_in DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:0050458 juvenile myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:0050458 juvenile myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12717436 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8615 PAX1 is_implicated_in DOID:14702 branchiootorenal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:865 vasculitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14583572 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP is_implicated_in DOID:1307 dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15034582 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9210 POU1F1 is_implicated_in DOID:9410 panhypopituitarism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14579 VPS45 is_implicated_in DOID:0112132 severe congenital neutropenia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17002564 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_implicated_in DOID:12716 newborn respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17524024 20100927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8910 PGR is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14557830 20070829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:14115 toxic shock syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20429897 20101018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12590 UQCRH is_implicated_in DOID:0111139 mitochondrial complex III deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12338 TRPC6 is_implicated_in DOID:1312 focal segmental glomerulosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15879175 20130717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12338 TRPC6 is_implicated_in DOID:1312 focal segmental glomerulosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15924139 20130717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12338 TRPC6 is_implicated_in DOID:1312 focal segmental glomerulosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22980509 20130717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 is_implicated_in DOID:11198 DiGeorge syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:0050567 orofacial cleft ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19891592 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:0050567 orofacial cleft ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19320731 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:0050567 orofacial cleft ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17337617 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:0050567 orofacial cleft ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18716610 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1975 VSX2 is_implicated_in DOID:0060839 isolated microphthalmia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17513698 20081113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16636650 20081113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8142 OPA3 is_implicated_in DOID:0110004 3-methylglutaconic aciduria type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16806 UBR5 is_implicated_in DOID:3008 invasive ductal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14871824 20090507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12476938 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16292672 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A is_implicated_in DOID:0070379 developmental and epileptic encephalopathy 6B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210526 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:1742 drug psychosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16402083 20231009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:52391 MYMX is_implicated_in DOID:0080194 Carey-Fineman-Ziter syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220706 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11167 SNTA1 is_implicated_in DOID:9007 sudden infant death syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20009079 20120730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15511 VANGL2 is_implicated_in DOID:0080074 neural tube defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10535 SAR1B is_implicated_in DOID:0060357 chylomicron retention disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35271823 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29911117 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30138645 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30936032 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21382455 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_not_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19096531 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_not_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16020311 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32174 TPRX1 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17996 NAGS is_implicated_in DOID:9252 amino acid metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12594532 20070314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25380 TMEM163 is_implicated_in DOID:0070401 hypomyelinating leukodystrophy 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18021 TMC6 is_implicated_in DOID:13777 epidermodysplasia verruciformis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11599 TBX21 is_implicated_in DOID:0111579 asthma, nasal polyps, and aspirin intolerance ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16133 TBC1D20 is_implicated_in DOID:0110719 Warburg micro syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9987 RFXANK is_implicated_in DOID:5812 MHC class II deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180207 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:2876 laryngeal squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19922706 20110511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:2876 laryngeal squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16155914 20110511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24951052 20170918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25910066 20170918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20324 TGDS is_implicated_in DOID:0081122 Catel Manzke syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10345 RPL35A is_implicated_in DOID:0111883 Diamond-Blackfan anemia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18535205 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10345 RPL35A is_implicated_in DOID:0111883 Diamond-Blackfan anemia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22689679 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10345 RPL35A is_implicated_in DOID:0111883 Diamond-Blackfan anemia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24929 PSMG2 is_implicated_in DOID:0060915 proteosome-associated autoinflammatory syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7720 NEB is_implicated_in DOID:0110928 nemaline myopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20300292 20100928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22017289 20140102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17558849 20140102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16581274 20140102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25860641 20221109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29596833 20221109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22185286 20221109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14938 PIGT is_implicated_in DOID:0060284 paroxysmal nocturnal hemoglobinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11764 TG is_implicated_in DOID:0112187 thyroid dyshormonogenesis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13635 PLVAP is_implicated_in DOID:0060774 congenital diarrhea ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12631 USP8 is_implicated_in DOID:7004 ACTH-secreting pituitary adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:1996 rectum adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22121102 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8950 SERPINB6 is_implicated_in DOID:0110536 autosomal recessive nonsyndromic deafness 91 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11167 SNTA1 is_implicated_in DOID:2843 long QT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19684871 20120730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29605 SH2B3 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21829393 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29605 SH2B3 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21873553 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8617 PAX3 is_implicated_in DOID:9258 Waardenburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12949970 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8617 PAX3 is_implicated_in DOID:9258 Waardenburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8589691 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7532 MX1 is_implicated_in DOID:986 alopecia areata ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10942113 20210407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9918525 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:234 colon adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17575153 20080313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11427 STUB1 is_implicated_in DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20157775 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17848193 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14537 NPC2 is_implicated_in DOID:0070114 Niemann-Pick disease type C2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:3119 gastrointestinal system cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25389115 20170502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17995 TRPM6 is_implicated_in DOID:0060883 intestinal hypomagnesemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11020 SLC34A2 is_implicated_in DOID:12117 pulmonary alveolar microlithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4061 SLC37A4 is_implicated_in DOID:0081330 glycogen storage disease Ib ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9428641 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4061 SLC37A4 is_implicated_in DOID:0081330 glycogen storage disease Ib ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10263 RP1 is_implicated_in DOID:0110390 retinitis pigmentosa 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_not_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19133136 20150717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28457473 20191204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10938 SLC19A2 is_implicated_in DOID:0090117 thiamine-responsive megaloblastic anemia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16626 RAPGEF4 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14593429 20150323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19615888 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22576141 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10604 SCO2 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10749987 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10938 SLC19A2 is_implicated_in DOID:13382 megaloblastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10391221 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:11963 esophagitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20811626 20100909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17359 NUP54 is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230712 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13655 SCUBE3 is_implicated_in DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23269818 20130319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1936 atherosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21114134 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10419 RPS29 is_implicated_in DOID:0111889 Diamond-Blackfan anemia 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:0050678 Blau syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:0050678 Blau syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19479837 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:0050678 Blau syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15812565 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:0050678 Blau syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19116920 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:0050678 Blau syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11528384 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19797428 20201211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:13406 pulmonary sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19679608 20110429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12307 TRIP13 is_implicated_in DOID:0080689 mosaic variegated aneuploidy syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:9279 hyperhomocysteinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12068375 20070419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 is_implicated_in DOID:0111603 distal arthrogryposis type 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17041932 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 is_implicated_in DOID:0111603 distal arthrogryposis type 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25339627 20170404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25704602 20170404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10592 SCN4B is_implicated_in DOID:0110651 long QT syndrome 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29017 PLEKHM1 is_implicated_in DOID:0110945 autosomal recessive osteopetrosis 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16807677 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10524 SALL1 is_implicated_in DOID:2810 middle lobe syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16088922 20070207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10524 SALL1 is_implicated_in DOID:2810 middle lobe syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11102974 20070207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15908 NAA20 is_implicated_in DOID:0081233 autosomal recessive intellectual developmental disorder 73 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220323 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25393105 20220304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:234 colon adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22121102 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11278 SPTLC2 is_implicated_in DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22110223 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9811 RAD21 is_implicated_in DOID:0080508 Cornelia de Lange syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28958 NUP93 is_implicated_in DOID:0080387 nephrotic syndrome type 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12299 TRHR is_implicated_in DOID:0111836 congenital nongoitrous hypothyroidism 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_implicated_in DOID:0111252 vestibular schwannomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28365909 20220414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_implicated_in DOID:0111252 vestibular schwannomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_implicated_in DOID:0111252 vestibular schwannomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29409008 20220414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10729395 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11917194 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL is_implicated_in DOID:0050771 pheochromocytoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL is_implicated_in DOID:0050771 pheochromocytoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12500216 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15574 RB1CC1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15574 RB1CC1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12068296 20180711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:1240 leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11222389 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21641 TSPAN12 is_implicated_in DOID:0111408 exudative vitreoretinopathy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9831 RAG1 is_implicated_in DOID:0112253 combined cellular and humoral immune defects with granulomas ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11367 STAT5B is_implicated_in DOID:234 colon adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22121102 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9645419 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16769586 20160215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_not_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15048647 20170803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:576 proteinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22787315 20130618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22591296 20120817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11799 THRB is_implicated_in DOID:11633 thyroid hormone resistance syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15913586 20070427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28128 TMEM107 is_implicated_in DOID:0080253 Meckel syndrome 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19575238 20101006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20403143 20101006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25686 PPCS is_implicated_in DOID:0081159 dilated cardiomyopathy 2C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11597 TBX2 is_implicated_in DOID:1681 heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30262811 20230824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11597 TBX2 is_implicated_in DOID:1681 heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30525309 20230824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8827 PELI1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33470690 20220617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8653 PCCA is_implicated_in DOID:14701 propionic acidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9857 RAP1B is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:4467 clear cell renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20039875 20120913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:4467 clear cell renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21489764 20120913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11241 SPI1 is_implicated_in DOID:0081142 agammaglobulinemia 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25640 UFSP2 is_implicated_in DOID:0111367 Beukes hip dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 is_implicated_in DOID:0081154 common variable immunodeficiency 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21897766 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:1240 leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20884738 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9949 RECQL4 is_implicated_in DOID:2732 Rothmund-Thomson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10678659 20191023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9949 RECQL4 is_implicated_in DOID:2732 Rothmund-Thomson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9608 PTH1R is_implicated_in DOID:0111341 primary failure of tooth eruption ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19061984 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9608 PTH1R is_implicated_in DOID:0111341 primary failure of tooth eruption ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24058597 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9608 PTH1R is_implicated_in DOID:0111341 primary failure of tooth eruption ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR is_not_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21155717 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11943 TNNC1 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11385718 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17131479 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18340647 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16059695 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11929588 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18454481 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17180310 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17301259 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17999359 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16624550 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18429825 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10256 ROR1 is_implicated_in DOID:0080263 autosomal recessive nonsyndromic deafness 108 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10257 ROR2 is_implicated_in DOID:0060764 autosomal recessive Robinow syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24932600 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10257 ROR2 is_implicated_in DOID:0060764 autosomal recessive Robinow syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10934 SLC18A1 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16936705 20110425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20372 NDUFB11 is_implicated_in DOID:0111876 linear skin defects with multiple congenital anomalies 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:33280 SEPTIN14 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27115672 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17759 PDSS1 is_implicated_in DOID:0070239 primary coenzyme Q10 deficiency 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9422511 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11719843 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16773428 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18331410 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10545951 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17440689 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:0050789 tarsal-carpal coalition syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26211601 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:0050789 tarsal-carpal coalition syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17092257 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23950893 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18981062 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23076337 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10706127 20130208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7943 NPR1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14646971 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7448 MTM1 is_implicated_in DOID:422 congenital structural myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8640223 20070312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20774 TUBB4A is_implicated_in DOID:0060798 hypomyelinating leukodystrophy 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14135 PIGQ is_implicated_in DOID:0112213 multiple congenital anomalies-hypotonia-seizures syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 is_implicated_in DOID:6420 pulmonary valve stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17143285 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:0060193 amyotrophic lateral sclerosis type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20184521 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:0060193 amyotrophic lateral sclerosis type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10809943 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:0060193 amyotrophic lateral sclerosis type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8446170 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:0060193 amyotrophic lateral sclerosis type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8815157 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:0060193 amyotrophic lateral sclerosis type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19509102 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19482368 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10603 SCO1 is_implicated_in DOID:3762 cytochrome-c oxidase deficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11013136 20070206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17284 POT1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23907815 20220601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10966 SLC22A2 is_implicated_in DOID:3021 acute kidney failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19625999 20130520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:0080787 proximal symphalangism 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201021 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_not_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21155887 20111020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7661 NCF2 is_implicated_in DOID:0070191 autosomal recessive chronic granulomatous disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16854 RAPGEF2 is_implicated_in DOID:0111694 familial adult myoclonic epilepsy 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21245953 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:1727 retinal vein occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16244763 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12189117 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_implicated_in DOID:1825 childhood absence epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26537434 20170421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17075 TAB2 is_implicated_in DOID:2152 ovary epithelial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31485280 20221114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_implicated_in DOID:0080663 atrial standstill 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29925858 20231019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18923396 20231019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12634240 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9879 RASGRP2 is_implicated_in DOID:0111051 platelet-type bleeding disorder 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11460 SUOX is_implicated_in DOID:0111270 isolated sulfite oxidase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11905 TNFRSF10B is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12723 VSX1 is_implicated_in DOID:0110855 posterior polymorphous corneal dystrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16384943 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 is_implicated_in DOID:0060369 Parkinson's disease 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8617 PAX3 is_implicated_in DOID:4051 alveolar rhabdomyosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8617 PAX3 is_implicated_in DOID:4051 alveolar rhabdomyosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15313887 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11037 SLC5A2 is_implicated_in DOID:9432 renal glycosuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12436245 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11037 SLC5A2 is_implicated_in DOID:9432 renal glycosuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11037 SLC5A2 is_implicated_in DOID:9432 renal glycosuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14614622 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11632 TCF21 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26909569 20230428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:8505 dermatitis herpetiformis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7914110 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29239247 20190513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_implicated_in DOID:3672 rhabdoid cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9671307 20070115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:12134 factor VIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22411997 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16501 PDLIM4 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:12270 coloboma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12269 TREX1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10718 SELE is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17578587 20091002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18711258 20101029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19096005 20101029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19046298 20101029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19222424 20101029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17673695 20101029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11824 TINF2 is_implicated_in DOID:0070018 autosomal dominant dyskeratosis congenita 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12010 TPM1 is_implicated_in DOID:0110457 dilated cardiomyopathy 1Y ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_implicated_in DOID:0080379 nephrotic syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9853251 20130820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16438 SLC4A11 is_implicated_in DOID:0060649 congenital hereditary endothelial dystrophy of cornea ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15888 RTEL1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31762827 20220609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:986 alopecia areata ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16829308 20120703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:0080334 aortic valve disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22179962 20170713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:0080334 aortic valve disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25438918 20170713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_implicated_in DOID:0111949 immunodeficiency 36 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25060515 20210303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_implicated_in DOID:409 liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19961268 20190702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_implicated_in DOID:409 liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19738092 20190702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11546 TAF13 is_implicated_in DOID:0081222 autosomal recessive intellectual developmental disorder 60 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19837268 20120905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20146887 20120905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22126575 20120905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12941546 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24223163 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21521424 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26502829 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28336495 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23101464 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16924269 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10940 SLC1A2 is_implicated_in DOID:0080442 developmental and epileptic encephalopathy 41 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17023 RNF139 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9689122 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17023 RNF139 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17539022 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17023 RNF139 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:12336 male infertility ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16247718 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9988 RFXAP is_implicated_in DOID:5812 MHC class II deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180207 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13993 PRDM8 is_implicated_in DOID:0111445 progressive myoclonus epilepsy 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:12206 dengue hemorrhagic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30452889 20200916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16831 TSPOAP1 is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230809 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15004560 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20176734 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21873553 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20122 TDRD9 is_implicated_in DOID:0111913 spermatogenic failure 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190410 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10521 SAG is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230215 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22771446 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_implicated_in DOID:0060367 Parkinson's disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23335958 20130318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_implicated_in DOID:768 retinoblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12402348 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_implicated_in DOID:768 retinoblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9721 PYCR1 is_implicated_in DOID:0070137 autosomal recessive cutis laxa type IIB ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 is_implicated_in DOID:0050453 lissencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17559086 20160902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17194 NDUFA13 is_implicated_in DOID:8161 thyroid gland Hurthle cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16400 NLRP3 is_implicated_in DOID:0050854 Muckle-Wells syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 is_implicated_in DOID:0070096 oculocutaneous albinism type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 is_implicated_in DOID:0070096 oculocutaneous albinism type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20019752 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 is_implicated_in DOID:0070096 oculocutaneous albinism type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7920637 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 is_implicated_in DOID:0070096 oculocutaneous albinism type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22734612 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 is_implicated_in DOID:0070096 oculocutaneous albinism type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12469324 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10591 SCN4A is_implicated_in DOID:14451 hyperkalemic periodic paralysis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10591 SCN4A is_implicated_in DOID:14451 hyperkalemic periodic paralysis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12933953 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12698 VLDLR is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7550352 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7788 NFIX is_implicated_in DOID:0112102 Sotos syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16319130 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27424 RBM20 is_implicated_in DOID:0110447 dilated cardiomyopathy 1DD ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15888 RTEL1 is_implicated_in DOID:5076 mixed glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30462709 20220606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20194 POLR1C is_implicated_in DOID:0060792 hypomyelinating leukodystrophy 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11245 SPINK2 is_implicated_in DOID:0111930 spermatogenic failure 29 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:22965 PEX26 is_implicated_in DOID:0080377 peroxisomal biogenesis disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 is_implicated_in DOID:0111153 congenital mirror movement disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16837812 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16081038 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18486767 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10001 RGS5 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24717 PTCD3 is_implicated_in DOID:0112137 combined oxidative phosphorylation deficiency 51 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17318 RXFP2 is_implicated_in DOID:11383 cryptorchidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12217959 20070301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24305 NCAPD2 is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10485 RYR3 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26309413 20230119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15663505 20140423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10978 SLC24A4 is_implicated_in DOID:10123 pigmentation disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11153 SNRPB is_implicated_in DOID:0111248 cerebrocostomandibular syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26971886 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11153 SNRPB is_implicated_in DOID:0111248 cerebrocostomandibular syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26535 SHOC1 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221109 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12694 VIPR1 is_implicated_in DOID:9164 achalasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19309439 20120112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18098291 20120917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19466271 20101027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18424453 20101027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9069 PLEC is_implicated_in DOID:0060736 epidermolysis bullosa simplex Ogna type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:980 choroidal sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8644804 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:980 choroidal sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:980 choroidal sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16832026 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11026 SLC3A2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24782339 20220622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10906 SLC10A2 is_implicated_in DOID:5295 intestinal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9109432 20070503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9305 PPP2R2B is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20669227 20120118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9707 NECTIN2 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16738668 20120711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 is_implicated_in DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 is_implicated_in DOID:12971 hereditary spherocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8547122 20160114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 is_implicated_in DOID:12971 hereditary spherocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9326249 20160114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 is_implicated_in DOID:12971 hereditary spherocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8282779 20160114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 is_implicated_in DOID:12971 hereditary spherocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9207478 20160114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10912 SLC12A3 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15824464 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10912 SLC12A3 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15480096 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11389 STK11 is_implicated_in DOID:3852 Peutz-Jeghers syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8082 NYX is_implicated_in DOID:0110870 congenital stationary night blindness 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7432 MTHFD1 is_implicated_in DOID:14250 Down syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25671679 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16055928 20070208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11968081 20070208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10937588 20070208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11515 TBXT is_implicated_in DOID:0080074 neural tube defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25009 UBE2T is_implicated_in DOID:0111081 Fanconi anemia complementation group T ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9490 TMPRSS15 is_implicated_in DOID:0111667 enterokinase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15836 PROKR2 is_implicated_in DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190102 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14977 SNX14 is_implicated_in DOID:0080066 autosomal recessive spinocerebellar ataxia 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29017 PLEKHM1 is_implicated_in DOID:13533 osteopetrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23663 VKORC1 is_implicated_in DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14765194 20180627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23663 VKORC1 is_implicated_in DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15890549 20140102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11918626 20140102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17973941 20140102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23776381 20140102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7842 NMB is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15585758 20070830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7842 NMB is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11194934 20070830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11009 SLC2A4 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1918382 20070528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:0060669 cerebral cavernous malformation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220629 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11055 SLC6A8 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11898126 20070226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12648582 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18248301 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18083 TRPV4 is_implicated_in DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180711 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12185156 20070529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:289 endometriosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20070289 20120702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 is_implicated_in DOID:6713 cerebrovascular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21903943 20231016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:0112255 homocystinuria-megaloblastic anemia cblE type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:497 TRPA1 is_implicated_in DOID:0111729 familial episodic pain syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_implicated_in DOID:0001816 angiosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24633157 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_implicated_in DOID:0001816 angiosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26440310 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25902 POMGNT2 is_implicated_in DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_implicated_in DOID:0111441 optic atrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16617242 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_implicated_in DOID:0111441 optic atrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17306754 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_implicated_in DOID:0111441 optic atrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_implicated_in DOID:0111441 optic atrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23401657 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_implicated_in DOID:0111441 optic atrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16513463 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_implicated_in DOID:0111441 optic atrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20546606 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_implicated_in DOID:0111441 optic atrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19112530 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22553514 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11795 THPO is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230906 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 is_implicated_in DOID:11870 Pick's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22160516 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16458279 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16187 SLC52A3 is_implicated_in DOID:0080632 Fazio-Londe disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200311 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11847 TLR1 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21108742 20130620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9988270 20070417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7678 NDP is_implicated_in DOID:0111413 X-linked exudative vitreoretinopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8252044 20180214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7678 NDP is_implicated_in DOID:0111413 X-linked exudative vitreoretinopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_not_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29286614 20191029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11111 SMC1A is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33779075 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9454 PROM1 is_implicated_in DOID:0110376 retinitis pigmentosa 41 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14234 NSD1 is_implicated_in DOID:14748 Sotos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14571271 20141114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11595 TBX18 is_implicated_in DOID:0080207 CAKUT2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15031030 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20101697 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7717 NDUFV2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9570948 20081215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34843875 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10671 SDCCAG8 is_implicated_in DOID:0110138 Bardet-Biedl syndrome 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_implicated_in DOID:0090044 dystonia 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231108 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_implicated_in DOID:0090044 dystonia 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21832227 20231108 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 is_implicated_in DOID:0060916 proteasome-associated autoinflammatory syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 is_implicated_in DOID:12557 Duane retraction syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12393809 20161031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 is_implicated_in DOID:12557 Duane retraction syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23687435 20161031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 is_implicated_in DOID:12557 Duane retraction syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12395297 20161031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 is_implicated_in DOID:12557 Duane retraction syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26791099 20161031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 is_implicated_in DOID:12557 Duane retraction syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16411190 20161031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11177 SOAT1 is_implicated_in DOID:12140 Chagas disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31236660 20210514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21233146 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_implicated_in DOID:2978 carbohydrate metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20382060 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_implicated_in DOID:2978 carbohydrate metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9462754 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_implicated_in DOID:2978 carbohydrate metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22011817 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_implicated_in DOID:2978 carbohydrate metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20661 SLC25A26 is_implicated_in DOID:0111470 combined oxidative phosphorylation deficiency 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16949520 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15270786 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24100645 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12851414 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23766857 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29092 OBSL1 is_implicated_in DOID:0060241 3-M syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_implicated_in DOID:0110149 Charcot-Marie-Tooth disease type 1F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9689 PTS is_implicated_in DOID:9281 phenylketonuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8178819 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8729 PCNA is_implicated_in DOID:0081385 ataxia-telangiectasia-like disorder-2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9535 PSMA6 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19165 TBC1D4 is_implicated_in DOID:3138 acanthosis nigricans ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19470471 20130807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20937265 20110131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22311043 20130212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7965 NR1H2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20939869 20120413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19040046 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19046748 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19327107 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12040339 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29482350 20191031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8587 PAICS is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19850283 20110720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10411 RPS24 is_implicated_in DOID:0111887 Diamond-blackfan anemia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12539 UGT1A7 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12806614 20100407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11653 TCN2 is_implicated_in DOID:13382 megaloblastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7849710 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_implicated_in DOID:12716 newborn respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11063734 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11106 SMARCD1 is_implicated_in DOID:0112372 Coffin-Siris syndrome 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12412 TUBB2A is_implicated_in DOID:0090135 complex cortical dysplasia with other brain malformations 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10535733 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11903230 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12161593 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26470833 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19005482 20120913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 is_implicated_in DOID:1882 atrial heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17143285 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16516037 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13398 NSDHL is_implicated_in DOID:0111898 CK syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8148 OPHN1 is_implicated_in DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16158428 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8148 OPHN1 is_implicated_in DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18261018 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8148 OPHN1 is_implicated_in DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12807966 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8148 OPHN1 is_implicated_in DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24105372 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8148 OPHN1 is_implicated_in DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8148 OPHN1 is_implicated_in DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20528889 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13818 SLC12A5 is_implicated_in DOID:0111315 idiopathic generalized epilepsy 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:32689 SLFN14 is_implicated_in DOID:0111055 platelet-type bleeding disorder 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23554871 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19124512 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20431345 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15328186 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19588543 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18419802 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11461072 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14987294 20110331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11702222 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19625716 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20595690 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14287 NLGN4X is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9067 PLD1 is_implicated_in DOID:0080633 developmental cardiac valvular defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200311 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18635682 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10683 SDHD is_implicated_in DOID:0050773 paraganglioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10683 SDHD is_implicated_in DOID:0050773 paraganglioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10657297 20190130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11260864 20100315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11866974 20100315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17893 PGAP2 is_implicated_in DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10939 SLC1A1 is_implicated_in DOID:0070093 schizophrenia 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8618 PAX4 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17426099 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8618 PAX4 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8618 PAX4 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12604352 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:2870 endometrial adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1540970 20080318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9205 PON2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18776646 20140610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9205 PON2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10677395 20140610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9380 PRKACA is_implicated_in DOID:0050891 adrenal cortical adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24855271 20180409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19743 POMT2 is_implicated_in DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_implicated_in DOID:0110454 dilated cardiomyopathy 1S ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0110414 retinitis pigmentosa 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0110414 retinitis pigmentosa 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9331262 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0110414 retinitis pigmentosa 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12859409 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0110414 retinitis pigmentosa 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18361418 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0110414 retinitis pigmentosa 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20021257 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0110414 retinitis pigmentosa 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17893654 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0110414 retinitis pigmentosa 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12123547 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0110414 retinitis pigmentosa 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9855162 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0110414 retinitis pigmentosa 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10094550 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_not_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11424981 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_not_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17374034 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_not_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35992511 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_not_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24035285 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12894231 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17983459 20160512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR is_implicated_in DOID:2861 congenital nonspherocytic hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11054094 20160927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR is_implicated_in DOID:2861 congenital nonspherocytic hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8161798 20160927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR is_implicated_in DOID:2861 congenital nonspherocytic hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1536957 20160927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR is_implicated_in DOID:2861 congenital nonspherocytic hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7949104 20160927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20820 TPCN2 is_implicated_in DOID:10123 pigmentation disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210818 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11495 SYN2 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8996 PIP5K1C is_implicated_in DOID:0060653 lethal congenital contracture syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12669 VDAC1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28977864 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7603 MYO5B is_implicated_in DOID:0060775 microvillus inclusion disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17216494 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18409070 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_not_implicated_in DOID:2316 brain ischemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11706124 20070726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30859 SNRNP200 is_implicated_in DOID:0110366 retinitis pigmentosa 33 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15888 RTEL1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27765928 20220609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_implicated_in DOID:0060201 amyotrophic lateral sclerosis type 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6172 STT3A is_implicated_in DOID:0080572 congenital disorder of glycosylation Iw ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR is_implicated_in DOID:1926 Gaucher's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9677056 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16808 UBR1 is_implicated_in DOID:14694 Johanson-Blizzard syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230123 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16808 UBR1 is_implicated_in DOID:14694 Johanson-Blizzard syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19006206 20230123 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16808 UBR1 is_implicated_in DOID:14694 Johanson-Blizzard syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21711208 20230123 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_implicated_in DOID:4511 breast angiosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32123305 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30500 PRRT2 is_implicated_in DOID:0081115 benign familial infantile seizures 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17506475 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16100768 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11134121 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16279845 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7534 MXI1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7773287 20180418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7534 MXI1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18127 TUBGCP6 is_implicated_in DOID:0080105 microcephaly and chorioretinopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20815312 20140120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19096003 20140120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20685742 20140120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22402138 20140120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19148143 20140120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9910 RBMX is_implicated_in DOID:0060826 syndromic X-linked intellectual disability Shashi type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24617981 20140915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:848 arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19395541 20140107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28472 TMEM43 is_implicated_in DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:0060704 lymphoproliferative syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22859607 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15512 VANGL1 is_implicated_in DOID:0080074 neural tube defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2352 hemochromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16793930 20170517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2352 hemochromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11389006 20170517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:6196 reactive arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7748224 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20665 SCN3B is_implicated_in DOID:0110224 Brugada syndrome 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14537 NPC2 is_implicated_in DOID:14504 Niemann-Pick disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11567215 20070423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25590 OGDHL is_implicated_in DOID:0070468 Yoon-Bellen neurodevelopmental syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27008863 20181030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21364883 20181030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11597 TBX2 is_implicated_in DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190626 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26899 TMTC3 is_implicated_in DOID:0112233 lissencephaly 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:9263 homocystinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15714522 20111006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11109 SMARCE1 is_implicated_in DOID:4586 familial meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11117 SMN1 is_implicated_in DOID:13137 Werdnig-Hoffmann disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180530 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15138244 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_implicated_in DOID:0050548 hereditary sensory neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18322713 20120103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_implicated_in DOID:0050548 hereditary sensory neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18077166 20120103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_implicated_in DOID:0050548 hereditary sensory neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20647579 20120103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_implicated_in DOID:0050548 hereditary sensory neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19651702 20120103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_implicated_in DOID:0050548 hereditary sensory neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19250380 20120103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19533439 20101029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19136038 20101029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17492467 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9826 RAD54L is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16540687 20100331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24477042 20191008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26740948 20191008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24831885 20191008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12711 VPS26A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27281273 20231024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8850 PEX1 is_implicated_in DOID:0080476 peroxisome biogenesis disorder 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190306 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8743 PCSK1 is_implicated_in DOID:0111698 proprotein convertase 1/3 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21406 RARS2 is_implicated_in DOID:0060275 pontocerebellar hypoplasia type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6772 SMAD6 is_implicated_in DOID:9827 radioulnar synostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16691 TUBGCP4 is_implicated_in DOID:0080107 microcephaly and chorioretinopathy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17772 TXN2 is_implicated_in DOID:0111501 combined oxidative phosphorylation deficiency 29 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8724 PCK1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16620271 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8724 PCK1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16978381 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:0080191 PTEN hamartoma tumor syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24102544 20170411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:0080191 PTEN hamartoma tumor syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9140396 20170411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:0080191 PTEN hamartoma tumor syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17341483 20170411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11280 SQSTM1 is_implicated_in DOID:0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18774170 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14432 TMEM237 is_implicated_in DOID:0110983 Joubert syndrome 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11831 TK2 is_implicated_in DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21694 POU6F2 is_implicated_in DOID:2154 nephroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_implicated_in DOID:576 proteinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10430976 20130820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17993 TRPM4 is_implicated_in DOID:0111076 progressive familial heart block type IB ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7467 MTTP is_implicated_in DOID:1386 abetalipoproteinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10946006 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7467 MTTP is_implicated_in DOID:1386 abetalipoproteinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14741197 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7467 MTTP is_implicated_in DOID:1386 abetalipoproteinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8533758 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7467 MTTP is_implicated_in DOID:1386 abetalipoproteinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11743 TFAP2B is_implicated_in DOID:13832 patent ductus arteriosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11743 TFAP2B is_implicated_in DOID:13832 patent ductus arteriosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10802654 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_implicated_in DOID:0050904 salivary gland carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26035306 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10389 RPS15A is_implicated_in DOID:0111891 Diamond-Blackfan anemia 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17129 SLC39A4 is_implicated_in DOID:0050605 acrodermatitis enteropathica ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12068297 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17129 SLC39A4 is_implicated_in DOID:0050605 acrodermatitis enteropathica ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO is_implicated_in DOID:0110372 retinitis pigmentosa 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12704363 20110429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25439 TANGO2 is_implicated_in DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21903943 20231016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21906913 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7716 NDUFV1 is_implicated_in DOID:0112082 nuclear type mitochondrial complex I deficiency 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:9669 senile cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16251120 20140423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20800 SLC35D1 is_implicated_in DOID:0050775 schneckenbecken dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 is_implicated_in DOID:2367 neuroaxonal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19138334 20120430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 is_implicated_in DOID:2367 neuroaxonal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17033970 20120430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16327307 20140424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7907 NPHP3 is_implicated_in DOID:0070121 Meckel syndrome 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 is_implicated_in DOID:10123 pigmentation disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8646 PCBD1 is_implicated_in DOID:0081131 BH4-deficient hyperphenylalaninemia D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25532 MTPAP is_implicated_in DOID:0050943 spastic ataxia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19815736 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21245953 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22561696 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21670344 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20069064 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9493554 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9180 POLG2 is_implicated_in DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23389918 20160219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12450 TYRP1 is_implicated_in DOID:0070097 oculocutaneous albinism type III ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9352 PRDX1 is_implicated_in DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:10923 sickle cell anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22924497 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:10923 sickle cell anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20113291 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 is_implicated_in DOID:0060582 Noonan syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17143285 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 is_implicated_in DOID:0060582 Noonan syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17586837 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 is_implicated_in DOID:0060582 Noonan syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17143282 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 is_implicated_in DOID:0060582 Noonan syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10994 SLC26A2 is_implicated_in DOID:0070300 multiple epiphyseal dysplasia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24598000 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10994 SLC26A2 is_implicated_in DOID:0070300 multiple epiphyseal dysplasia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9612 PTK2B is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18075463 20080424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26267 POMK is_implicated_in DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_not_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27309885 20160919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12716 TRPV1 is_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22162417 20121212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13806 NEUROG3 is_implicated_in DOID:0060779 congenital malabsorptive diarrhea 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7928442 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7759306 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_not_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24035285 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16257 TUBB1 is_implicated_in DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8617 PAX3 is_implicated_in DOID:0110949 Waardenburg syndrome type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1172 VPS51 is_implicated_in DOID:0112332 pontocerebellar hypoplasia type 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_implicated_in DOID:0110581 autosomal dominant nonsyndromic deafness 56 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19063817 20101018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7958 NPY5R is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10849579 20070611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7631 NAGA is_implicated_in DOID:0112318 Schindler disease type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15208781 20190329 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21279993 20190329 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190329 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23639 SKIC3 is_implicated_in DOID:0111415 trichohepatoenteric syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23044 NANOS1 is_implicated_in DOID:0070171 spermatogenic failure 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24508317 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7645 NAT1 is_implicated_in DOID:3042 allergic contact dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19663877 20140424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19672627 20220510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11724 TEK is_implicated_in DOID:11294 arteriovenous malformation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8980225 20070423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8778 PDE3A is_implicated_in DOID:0111247 hypertension and brachydactyly syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8766 PDCD6IP is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221012 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9413 PRKDC is_implicated_in DOID:0111961 immunodeficiency 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0070117 Meckel syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23351400 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0070117 Meckel syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26191240 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0070117 Meckel syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16415887 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0070117 Meckel syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0070117 Meckel syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17397051 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0070117 Meckel syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17377820 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11105 SMARCC2 is_implicated_in DOID:0112367 Coffin-Siris syndrome 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11184 SORD is_implicated_in DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200916 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29947 TRAK1 is_implicated_in DOID:0112204 developmental and epileptic encephalopathy 68 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10681 SDHB is_implicated_in DOID:0050773 paraganglioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11404820 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10681 SDHB is_implicated_in DOID:0050773 paraganglioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10923 SLC16A2 is_implicated_in DOID:0050631 Allan-Herndon-Dudley syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_implicated_in DOID:0080235 autosomal dominant intellectual developmental disorder 48 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23922896 20160909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20510681 20160909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26735576 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 is_implicated_in DOID:0060671 cerebral cavernous malformation 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25354366 20230926 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 is_implicated_in DOID:0060671 cerebral cavernous malformation 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25122144 20230926 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 is_implicated_in DOID:0060671 cerebral cavernous malformation 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17041941 20230926 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 is_implicated_in DOID:0060671 cerebral cavernous malformation 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16284570 20230926 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 is_implicated_in DOID:0060671 cerebral cavernous malformation 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15543491 20230926 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 is_implicated_in DOID:0060671 cerebral cavernous malformation 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27737651 20230926 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 is_implicated_in DOID:0060671 cerebral cavernous malformation 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230926 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8761 PDCD10 is_implicated_in DOID:0060671 cerebral cavernous malformation 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34597987 20230926 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20113509 20101029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20298136 20101029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19723394 20101029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4862 NCKAP1L is_implicated_in DOID:0112015 immunodeficiency 72 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200902 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22801493 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8724 PCK1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20574532 20151203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8724 PCK1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17440948 20151203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9449 PRNP is_implicated_in DOID:648 kuru ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11126413 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9769326 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18223008 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23594 VPS13C is_implicated_in DOID:0060896 Parkinson's disease 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9456 PROS1 is_implicated_in DOID:2451 protein S deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22261441 20160616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9456 PROS1 is_implicated_in DOID:2451 protein S deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7579448 20160616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9456 PROS1 is_implicated_in DOID:2451 protein S deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9657428 20160616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9456 PROS1 is_implicated_in DOID:2451 protein S deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16885060 20160616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9456 PROS1 is_implicated_in DOID:2451 protein S deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11776305 20160616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9456 PROS1 is_implicated_in DOID:2451 protein S deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19466456 20160616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:13544 low tension glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15557444 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18231846 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15295697 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20231985 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18397302 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17236578 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18506375 20090707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7849 NME1 is_implicated_in DOID:3307 teratoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7518576 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8907 PGM3 is_implicated_in DOID:0111953 immunodeficiency 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21957880 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16463158 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10057 RNF13 is_implicated_in DOID:0112209 developmental and epileptic encephalopathy 73 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190417 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:1790 malignant mesothelioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15993904 20110511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8091 OAT is_implicated_in DOID:1415 gyrate atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3339136 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8091 OAT is_implicated_in DOID:1415 gyrate atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17693525 20140213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7795 NFKB2 is_implicated_in DOID:0081152 common variable immunodeficiency 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8789 PDE6G is_implicated_in DOID:0110407 retinitis pigmentosa 57 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10853 SHOX is_implicated_in DOID:0060847 Leri-Weill dyschondrosteosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23631 NPSR1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17702965 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23631 NPSR1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15073379 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23631 NPSR1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23631 NPSR1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18285428 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18242170 20121129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19406964 20121129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12372 TSHB is_implicated_in DOID:1459 hypothyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1971148 20150205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15926114 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_implicated_in DOID:1307 dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21297263 20120403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11530 TACSTD2 is_implicated_in DOID:0060449 gelatinous drop-like corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26675 TERB1 is_implicated_in DOID:0112355 spermatogenic failure 60 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211222 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP is_implicated_in DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:0060704 lymphoproliferative syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10560675 20070419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14957 PUM1 is_implicated_in DOID:0111743 cerebellar ataxia type 47 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10993 SLC26A1 is_implicated_in DOID:0080652 calcium oxalate nephrolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230531 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9071 PLG is_implicated_in DOID:0111592 plasminogen deficiency type I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12336 TRPC4 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27617218 20220615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_not_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17608818 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10301 RPL11 is_implicated_in DOID:0111878 Diamond-Blackfan anemia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19773262 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10301 RPL11 is_implicated_in DOID:0111878 Diamond-Blackfan anemia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25946618 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10301 RPL11 is_implicated_in DOID:0111878 Diamond-Blackfan anemia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20378560 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10301 RPL11 is_implicated_in DOID:0111878 Diamond-Blackfan anemia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19191325 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10301 RPL11 is_implicated_in DOID:0111878 Diamond-Blackfan anemia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10301 RPL11 is_implicated_in DOID:0111878 Diamond-Blackfan anemia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19061985 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 is_not_implicated_in DOID:2152 ovary epithelial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15924337 20080718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15254716 20091222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19299905 20091222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29935 SPATA16 is_implicated_in DOID:0070167 spermatogenic failure 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28971 SPIDR is_implicated_in DOID:14450 46 XX gonadal dysgenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211222 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11720 TECTA is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9590290 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11720 TECTA is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9949200 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_not_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:37177778 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_not_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:36099111 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24679990 20200928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19844206 20200928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27439447 20200928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15812265 20200928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12955294 20200928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11359 STAR is_implicated_in DOID:0050811 congenital adrenal hyperplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8634702 20070227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20774 TUBB4A is_implicated_in DOID:0090041 torsion dystonia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27387868 20161122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18083 TRPV4 is_implicated_in DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:10923 sickle cell anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22924497 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9455 PROP1 is_implicated_in DOID:1924 hypogonadism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15941866 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1983 UTP4 is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12417987 20070322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:0050787 juvenile polyposis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:0050787 juvenile polyposis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21465659 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:0050787 juvenile polyposis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9582123 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:0050787 juvenile polyposis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11583957 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15573 SETBP1 is_implicated_in DOID:0070509 Schinzel Giedion syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7684 NDUFA10 is_implicated_in DOID:0112069 nuclear type mitochondrial complex I deficiency 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19082 NALCN is_implicated_in DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11577 TAFAZZIN is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11896212 20070125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_not_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29911117 20231019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10360 RPL5 is_implicated_in DOID:0111879 Diamond-Blackfan anemia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25946618 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10360 RPL5 is_implicated_in DOID:0111879 Diamond-Blackfan anemia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10360 RPL5 is_implicated_in DOID:0111879 Diamond-Blackfan anemia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20378560 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10360 RPL5 is_implicated_in DOID:0111879 Diamond-Blackfan anemia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19191325 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10360 RPL5 is_implicated_in DOID:0111879 Diamond-Blackfan anemia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19773262 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10360 RPL5 is_implicated_in DOID:0111879 Diamond-Blackfan anemia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25132370 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10360 RPL5 is_implicated_in DOID:0111879 Diamond-Blackfan anemia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19061985 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29168 RPGRIP1L is_implicated_in DOID:0111002 Joubert syndrome 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17960139 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29168 RPGRIP1L is_implicated_in DOID:0111002 Joubert syndrome 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15946 RP1L1 is_implicated_in DOID:0050578 occult macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_implicated_in DOID:3008 invasive ductal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18256927 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17230526 20100315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18559563 20100315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11908 TNFRSF11A is_implicated_in DOID:0111542 familial expansile osteolysis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22269120 20120510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19298317 20231023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22443215 20231023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28656735 20231023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_not_implicated_in DOID:13544 low tension glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21921986 20140110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10983 SLC25A13 is_implicated_in DOID:0070342 adult-onset type II citrullinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10369257 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10983 SLC25A13 is_implicated_in DOID:0070342 adult-onset type II citrullinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10983 SLC25A13 is_implicated_in DOID:0070342 adult-onset type II citrullinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11153906 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10023 RIT1 is_implicated_in DOID:0060586 Noonan syndrome 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26873401 20210914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20377593 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19376604 20190522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15683428 20190522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21061 SERAC1 is_implicated_in DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21846984 20120625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20766 TUBA1A is_implicated_in DOID:0050453 lissencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17584854 20170412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:2987 familial mediterranean fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22244368 20170714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13764 RELT is_implicated_in DOID:0111722 amelogenesis imperfecta type 3C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17089 SYNE1 is_implicated_in DOID:0080954 arthrogryposis multiplex congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19542096 20170828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20956 PHACTR2 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20546594 20120515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14962110 20140423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_implicated_in DOID:1686 glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16148883 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29944 TENM3 is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26022 TRMT10C is_implicated_in DOID:0111471 combined oxidative phosphorylation deficiency 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10741 SEMA7A is_implicated_in DOID:0070221 progressive familial intrahepatic cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220518 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:1350 paranasal sinus benign neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23369851 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:1350 paranasal sinus benign neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22575263 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20648474 20191008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29674183 20191008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31377187 20191008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11771 TGFBI is_implicated_in DOID:0060444 granular corneal dystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9673 PTPRJ is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220510 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9673 PTPRJ is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19672627 20220510 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21270109 20140916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19384953 20140916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7800 NFKBIL1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12509789 20190329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7800 NFKBIL1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7652 NBN is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14973119 20080808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16163373 20160916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24338422 20220524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16068 PCNT is_implicated_in DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19643772 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16068 PCNT is_implicated_in DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18157127 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16068 PCNT is_implicated_in DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16068 PCNT is_implicated_in DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18174396 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16068 PCNT is_implicated_in DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21567919 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10360 RPL5 is_implicated_in DOID:3068 glioblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26892688 20160921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:5517 stomach carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24816253 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12011 TPM2 is_implicated_in DOID:0110932 nemaline myopathy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7871 NONO is_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31883306 20230119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16466 SUFU is_implicated_in DOID:4586 familial meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20124106 20120104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19844206 20120104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21984976 20180711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7464 MTNR1B is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15699513 20090828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19148143 20090828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9090 PLS1 is_implicated_in DOID:0112167 autosomal dominant nonsyndromic deafness 76 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200318 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29203 TBC1D24 is_implicated_in DOID:0110586 autosomal dominant nonsyndromic deafness 65 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9725 PYGL is_implicated_in DOID:2754 glycogen storage disease VI ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17705025 20200219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9725 PYGL is_implicated_in DOID:2754 glycogen storage disease VI ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21646031 20200219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9725 PYGL is_implicated_in DOID:2754 glycogen storage disease VI ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11689216 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29040 SZT2 is_implicated_in DOID:0080413 developmental and epileptic encephalopathy 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:0081317 multiple synostoses syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10080184 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:0081317 multiple synostoses syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16151340 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:0081317 multiple synostoses syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16267612 20110502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9608 PTH1R is_implicated_in DOID:0080020 Jansen's metaphyseal chondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17009 TRIOBP is_implicated_in DOID:0110486 autosomal recessive nonsyndromic deafness 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:9655 oral mucosa leukoplakia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17290401 20140425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17975 REEP2 is_implicated_in DOID:0110817 hereditary spastic paraplegia 72A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18027363 20100317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30064 PBRM1 is_implicated_in DOID:3495 extrahepatic bile duct adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25536104 20210824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12712 VPS33B is_implicated_in DOID:0070221 progressive familial intrahepatic cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220831 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_implicated_in DOID:0070145 hereditary sensory and autonomic neuropathy type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9154300 20170317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15856146 20170317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15358028 20170317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11877 TMPRSS3 is_implicated_in DOID:0110527 autosomal recessive nonsyndromic deafness 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11809 TIE1 is_implicated_in DOID:0050580 hereditary lymphedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210707 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29168 RPGRIP1L is_implicated_in DOID:0060668 anencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17558409 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16825821 20130304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11311 SRY is_implicated_in DOID:14448 46,XY sex reversal ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8257986 20070118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11311 SRY is_implicated_in DOID:14448 46,XY sex reversal ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2247151 20070118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17264 POLR1A is_implicated_in DOID:0060353 acrofacial dysostosis Cincinnati type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12563 UMPS is_implicated_in DOID:0050833 orotic aciduria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:27561 TSEN54 is_implicated_in DOID:0060274 pontocerebellar hypoplasia type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180822 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20771 TUBB4B is_implicated_in DOID:0112240 Leber congenital amaurosis with early-onset deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7944 NPR2 is_implicated_in DOID:0080050 acromesomelic dysplasia, Maroteaux type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8512 OTC is_implicated_in DOID:9271 ornithine carbamoyltransferase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8512 OTC is_implicated_in DOID:9271 ornithine carbamoyltransferase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8956038 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8512 OTC is_implicated_in DOID:9271 ornithine carbamoyltransferase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11793468 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8858 PEX3 is_implicated_in DOID:0080484 peroxisome biogenesis disorder 10A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26144 PALB2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26144 PALB2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19264984 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7527 MUTYH is_implicated_in DOID:5517 stomach carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15273732 20070302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12478 UBE2E2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27281273 20231024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24897126 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24928 VPS37A is_implicated_in DOID:0110805 hereditary spastic paraplegia 53 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:13544 low tension glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22831837 20140110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15877293 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21524304 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19768110 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 is_implicated_in DOID:9452 steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23564580 20191008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 is_implicated_in DOID:9452 steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25284145 20191008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 is_implicated_in DOID:9452 steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21319195 20191008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 is_implicated_in DOID:9452 steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25678388 20191008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18124 P2RY12 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22010907 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 is_implicated_in DOID:0070489 classic dopamine transporter deficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10521 SAG is_implicated_in DOID:0110712 Oguchi disease-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190306 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9671402 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9848 RANBP2 is_implicated_in DOID:0050905 inflammatory myofibroblastic tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12661011 20150414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 is_implicated_in DOID:0060316 orofaciodigital syndrome I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11950863 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 is_implicated_in DOID:0060316 orofaciodigital syndrome I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21729220 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 is_implicated_in DOID:0060316 orofaciodigital syndrome I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 is_implicated_in DOID:0060316 orofaciodigital syndrome I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18177199 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 is_implicated_in DOID:0060316 orofaciodigital syndrome I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23033313 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 is_implicated_in DOID:0060316 orofaciodigital syndrome I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16397067 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:4948 gallbladder carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29450669 20211216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:1273 respiratory syncytial virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17498296 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11311 SRY is_implicated_in DOID:0111761 46,XX sex reversal 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24880466 20170713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17891520 20170713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26679770 20170713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15342699 20170713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9651244 20170713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24796371 20170915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20772 TUBB3 is_implicated_in DOID:0090137 complex cortical dysplasia with other brain malformations 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7714 NDUFS7 is_implicated_in DOID:0060037 developmental disorder of mental health ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17658465 20090807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25231748 20220610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:13550 angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20069064 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:13550 angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23422825 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17063466 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17891484 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3169 S1PR2 is_implicated_in DOID:0110519 autosomal recessive nonsyndromic deafness 68 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_implicated_in DOID:0070482 spinal neurofibromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20007930 20110425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29918 NDUFAF3 is_implicated_in DOID:0112070 nuclear type mitochondrial complex I deficiency 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29401 MYSM1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21310492 20141110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_implicated_in DOID:0050685 small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9936 OPN1LW is_implicated_in DOID:13910 red color blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24839819 20151228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17189532 20110121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18714530 20110121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17177683 20110121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 is_implicated_in DOID:3490 Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17603483 20170621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 is_implicated_in DOID:3490 Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17603482 20170621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 is_implicated_in DOID:3490 Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20052757 20170621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15925 SAMHD1 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24317272 20210727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8855 PEX13 is_implicated_in DOID:0080377 peroxisomal biogenesis disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7707 NDUFS1 is_implicated_in DOID:0060536 mitochondrial complex I deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11349233 20120702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27490263 20240112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 is_implicated_in DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17728 PMFBP1 is_implicated_in DOID:0111922 spermatogenic failure 31 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9291 PPP1R3A is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10868947 20090724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9291 PPP1R3A is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9653600 20090724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:52293 PERCC1 is_implicated_in DOID:0060774 congenital diarrhea ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191204 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10978258 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10610741 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:0080653 urolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18240004 20130304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12461 UBAP1 is_implicated_in DOID:0112341 hereditary spastic paraplegia 80 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_implicated_in DOID:0050156 idiopathic pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33533494 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:8704 genital herpes ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22718836 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9115 PMM2 is_implicated_in DOID:0080552 congenital disorder of glycosylation Ia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7530 MVK is_implicated_in DOID:3146 lipid metabolism disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1377680 20070312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20373 SPG21 is_implicated_in DOID:2476 hereditary spastic paraplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14564668 20061214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12014 TPMT is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22009189 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12014 TPMT is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17164697 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29022 SPECC1L is_implicated_in DOID:0111706 oblique facial clefting 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:13001 carotid stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15748240 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18124 P2RY12 is_implicated_in DOID:0060692 platelet-type bleeding disorder 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET is_implicated_in DOID:0050547 familial medullary thyroid carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24320988 20140207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24055231 20140207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15864137 20140207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20716226 20140207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17763859 20140207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28472 TMEM43 is_implicated_in DOID:0112373 autosomal dominant auditory neuropathy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11317 SSBP1 is_implicated_in DOID:5723 optic atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200930 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20653 SLC9A9 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_implicated_in DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15476949 20090506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18067077 20090506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29250 WDR35 is_implicated_in DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 is_implicated_in DOID:321 tropical spastic paraparesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22170554 20201214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24323642 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30683615 20190523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30218108 20190523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15578 REPS1 is_implicated_in DOID:0110734 neurodegeneration with brain iron accumulation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:2871 endometrial carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10331746 20080829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:0111512 metachondromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15754 MYL9 is_implicated_in DOID:0080326 familial hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16076902 20061114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15454 SHOC2 is_implicated_in DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15454 SHOC2 is_implicated_in DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20882035 20230112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15454 SHOC2 is_implicated_in DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35348676 20230112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15454 SHOC2 is_implicated_in DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23918763 20230112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17602083 20080404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11533 TAF1B is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11762 TFR2 is_implicated_in DOID:0111030 hemochromatosis type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8854 PEX12 is_implicated_in DOID:0080478 peroxisome biogenesis disorder 3A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_implicated_in DOID:13515 tuberous sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16114042 20161215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9411 PRKCSH is_implicated_in DOID:409 liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12529853 20070118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12514664 20130726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22170009 20130726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17627246 20120910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21652 OSTM1 is_implicated_in DOID:0110939 autosomal recessive osteopetrosis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:0050788 proximal symphalangism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10080184 20170404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:0050788 proximal symphalangism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24326127 20170404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:0050788 proximal symphalangism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11846737 20170404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19139 POMGNT1 is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17030669 20150723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11453 SULT1A1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16175316 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19563523 20120702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9545 PSMB8 is_implicated_in DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8068 NUP98 is_implicated_in DOID:5603 T-cell acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10477737 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8127 OGT is_implicated_in DOID:0080240 non-syndromic X-linked intellectual disability 106 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10985 SLC25A15 is_implicated_in DOID:9273 citrullinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10369256 20070122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10985 SLC25A15 is_implicated_in DOID:9273 citrullinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10805333 20070122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9608 PTH1R is_implicated_in DOID:0111732 Eiken syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9608 PTH1R is_implicated_in DOID:0111732 Eiken syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15525660 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14244 RAB18 is_implicated_in DOID:0110718 Warburg micro syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21211002 20150828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19133136 20150828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24383721 20150828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21595933 20150828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22589246 20150828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 is_implicated_in DOID:0060468 Holt-Oram syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12843316 20161027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:4404 occupational dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19834256 20140425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17349 PRPF4 is_implicated_in DOID:0110392 retinitis pigmentosa 70 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8632 PBX1 is_implicated_in DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8632 PBX1 is_implicated_in DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29036646 20221025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 is_implicated_in DOID:0014667 disease of metabolism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18692268 20090609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19693091 20190523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16733893 20190523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL is_implicated_in DOID:14175 von Hippel-Lindau disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10526 SALL2 is_implicated_in DOID:12270 coloboma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15211625 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17192 TIRAP is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9645 PTPN12 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A is_implicated_in DOID:2843 long QT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15840476 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8604 PAPSS2 is_implicated_in DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20087 TTC8 is_implicated_in DOID:0110130 Bardet-Biedl syndrome 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10682 SDHC is_implicated_in DOID:0080533 Carney-Stratakis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19063817 20101018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15584484 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20802517 20181119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11799 THRB is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11756220 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29605 SH2B3 is_implicated_in DOID:2224 essential thrombocythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:0060668 anencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26045171 20170712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2048 autoimmune hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15683428 20190522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15936 NCOA6 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10567404 20141114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10959 SLCO1B1 is_implicated_in DOID:2741 bilirubin metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180131 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15829498 20140114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15625 NBAS is_implicated_in DOID:0080716 infantile liver failure syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12200397 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24276 SAMM50 is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26740948 20171215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8516 OTOG is_implicated_in DOID:0110474 autosomal recessive nonsyndromic deafness 18B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20183911 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21153698 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11536371 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16614128 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16492928 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10024 RLBP1 is_implicated_in DOID:11105 fundus albipunctatus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15592940 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25896 ORAI1 is_implicated_in DOID:0111976 immunodeficiency 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10866 ST3GAL3 is_implicated_in DOID:0081180 autosomal recessive intellectual developmental disorder 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14294 SHANK3 is_implicated_in DOID:0070091 schizophrenia 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20144966 20120927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19567477 20120927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19177153 20120927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18794854 20120927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21968013 20120927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8851 PEX10 is_implicated_in DOID:0080377 peroxisomal biogenesis disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_implicated_in DOID:4621 holoprosencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11941477 20170328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10914 SLC12A6 is_implicated_in DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16606917 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10914 SLC12A6 is_implicated_in DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11817 TIMM8A is_implicated_in DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15710860 20180613 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11817 TIMM8A is_implicated_in DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180613 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11817 TIMM8A is_implicated_in DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11601506 20180613 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11817 TIMM8A is_implicated_in DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17471106 20180613 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11247 SPINT2 is_implicated_in DOID:0060781 congenital secretory sodium diarrhea 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18780967 20111011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16711 TLR6 is_implicated_in DOID:0060000 infective endocarditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25213166 20210602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9280 PPOX is_implicated_in DOID:4346 variegate porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180207 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13995 PRDM10 is_implicated_in DOID:0050676 Birt-Hogg-Dube syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230802 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10771 SF3B4 is_implicated_in DOID:5768 Nager acrofacial dysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22541558 20230116 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10771 SF3B4 is_implicated_in DOID:5768 Nager acrofacial dysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230116 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10771 SF3B4 is_implicated_in DOID:5768 Nager acrofacial dysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23568615 20230116 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12517 UCP1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11317671 20091006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23094 SLC16A12 is_implicated_in DOID:0070353 cataract 47 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11802 TIA1 is_implicated_in DOID:0081380 amyotrophic lateral sclerosis type 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210113 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16466 SUFU is_implicated_in DOID:0070366 nevoid basal cell carcinoma syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_implicated_in DOID:4586 familial meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 is_implicated_in DOID:0110308 hypertrophic cardiomyopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22453148 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14966 PXDN is_implicated_in DOID:0080612 anterior segment dysgenesis 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26144 PALB2 is_implicated_in DOID:0050671 female breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30303537 20220609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11598 TBX20 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25487630 20230131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11598 TBX20 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27034249 20230131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11280 SQSTM1 is_implicated_in DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis-3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 is_not_implicated_in DOID:10966 lipoid nephrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15687724 20130522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16517 TMPRSS6 is_implicated_in DOID:11252 microcytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19077 NCR3 is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:1407 anterior uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15851552 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9455 PROP1 is_implicated_in DOID:9406 hypopituitarism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9768691 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10328 RPL27 is_implicated_in DOID:0111893 Diamond-Blackfan anemia 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8940 PHYH is_implicated_in DOID:0050567 orofacial cleft ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27229527 20181221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12597 USH1C is_implicated_in DOID:0110473 autosomal recessive nonsyndromic deafness 18A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17175 PLCE1 is_implicated_in DOID:0080382 nephrotic syndrome type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:8929 atrophic gastritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22788847 20200930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:8929 atrophic gastritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19589142 20200930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:8929 atrophic gastritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17211494 20200930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:8929 atrophic gastritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18712962 20200930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19575238 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9591753 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18683148 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9753710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11604 TBX5 is_implicated_in DOID:0060468 Holt-Oram syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11604 TBX5 is_implicated_in DOID:0060468 Holt-Oram syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18451335 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11604 TBX5 is_implicated_in DOID:0060468 Holt-Oram syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20519243 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9173 POLA1 is_implicated_in DOID:0111840 Van Esch-O'Driscoll syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190821 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN is_implicated_in DOID:0111078 tibial muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180718 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18423055 20090810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12642 VAMP1 is_implicated_in DOID:0050772 spastic ataxia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12420 TUFM is_implicated_in DOID:0111494 combined oxidative phosphorylation deficiency 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31377187 20191008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12299 TRHR is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11566956 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12269 TREX1 is_implicated_in DOID:0050629 Aicardi-Goutieres syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10387 RPS14 is_implicated_in DOID:0090016 chromosome 5q deletion syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16517614 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11947 TNNI3 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15698845 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26270 PIEZO2 is_implicated_in DOID:0111608 distal arthrogryposis type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28147320 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24445728 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8808 PDHB is_implicated_in DOID:3649 pyruvate decarboxylase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15138885 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8808 PDHB is_implicated_in DOID:3649 pyruvate decarboxylase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16711 TLR6 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15266299 20101203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16711 TLR6 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18547625 20101203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23089 SLC13A5 is_implicated_in DOID:0080453 developmental and epileptic encephalopathy 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17608818 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:2871 endometrial carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23528559 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7708 NDUFS2 is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11220739 20070315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23049788 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18803832 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22729903 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20479942 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18516230 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7907 NPHP3 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19177160 20230106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32940 NKX2-6 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25380965 20230117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:9111 cutaneous leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16950634 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9086 PLP1 is_implicated_in DOID:0110773 hereditary spastic paraplegia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10485 RYR3 is_implicated_in DOID:0081352 congenital myopathy 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10783 SRSF2 is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33779075 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9364 PRG4 is_implicated_in DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9834 RAI1 is_implicated_in DOID:0060768 Smith-Magenis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12652298 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9834 RAI1 is_implicated_in DOID:0060768 Smith-Magenis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20267 TTC9 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7595 MYO1A is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12736868 20070305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10677395 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18290860 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 is_implicated_in DOID:0110735 neurodegeneration with brain iron accumulation 2a ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22934738 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 is_implicated_in DOID:0110735 neurodegeneration with brain iron accumulation 2a ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18798 SLC44A1 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26671581 20180817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12381 TSPY1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16618725 20091222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12881443 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23794 PACS2 is_implicated_in DOID:0080446 developmental and epileptic encephalopathy 66 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14583 VPS11 is_implicated_in DOID:0060796 hypomyelinating leukodystrophy 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15888 RTEL1 is_implicated_in DOID:3079 childhood astrocytic tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26014354 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16235982 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26944 TMEM138 is_implicated_in DOID:0110985 Joubert syndrome 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23147 UNC13D is_implicated_in DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14622600 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23147 UNC13D is_implicated_in DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30800 TMIE is_implicated_in DOID:0110512 autosomal recessive nonsyndromic deafness 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:0111054 von Willebrand's disease 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7831648 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:0111054 von Willebrand's disease 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9940 RDH5 is_implicated_in DOID:8499 night blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10617778 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1160 TWNK is_implicated_in DOID:0050857 Perrault syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19903 RRAGD is_implicated_in DOID:0060879 primary hypomagnesemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9456 PROS1 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21172841 20160615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16400 NLRP3 is_implicated_in DOID:0090029 CINCA Syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180808 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:0060651 MYH-9 related disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11935325 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:0060651 MYH-9 related disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11752022 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:0060651 MYH-9 related disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16806139 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:0060651 MYH-9 related disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_implicated_in DOID:3234 central nervous system lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28619981 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:3756 protein C deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8845458 20160610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:3756 protein C deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11434940 20160610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:3756 protein C deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8128429 20160610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:1024 leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20650301 20140723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:13166 allergic bronchopulmonary aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18275280 20110413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24684492 20160908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_not_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20479942 20130212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9005 PITX2 is_implicated_in DOID:14686 Axenfeld-Rieger syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19052653 20170620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9005 PITX2 is_implicated_in DOID:14686 Axenfeld-Rieger syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16876867 20170620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9438 PRKRA is_implicated_in DOID:0090048 dystonia 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_implicated_in DOID:5408 Paget's disease of bone ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12189164 20070501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18340 WDR19 is_implicated_in DOID:0111121 nephronophthisis 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18340 WDR19 is_implicated_in DOID:0111121 nephronophthisis 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26260382 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18340 WDR19 is_implicated_in DOID:0111121 nephronophthisis 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22019273 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23284801 20130131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12441 TYMS is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17512053 20160506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9069 PLEC is_implicated_in DOID:4644 epidermolysis bullosa simplex ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9069 PLEC is_implicated_in DOID:4644 epidermolysis bullosa simplex ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8894687 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9596 PTGER4 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16020747 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28862 NIPBL is_implicated_in DOID:11725 Cornelia de Lange syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27125329 20221024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28862 NIPBL is_implicated_in DOID:11725 Cornelia de Lange syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22353942 20221024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19998 TNPO2 is_implicated_in DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211215 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9080 PLN is_implicated_in DOID:0110324 hypertrophic cardiomyopathy 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15488875 20120720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11795274 20120720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8912 PHB1 is_implicated_in DOID:8029 sporadic breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1540973 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11950 TNNT3 is_implicated_in DOID:0111599 distal arthrogryposis type 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12865991 20070206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_implicated_in DOID:2129 atypical teratoid rhabdoid tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16932 NEBL is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11140941 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12698 VLDLR is_implicated_in DOID:1307 dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11342683 20150216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:6196 reactive arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7748224 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17194 NDUFA13 is_implicated_in DOID:0112095 nuclear type mitochondrial complex I deficiency 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17754 THSD1 is_implicated_in DOID:0080975 intracranial berry aneurysm 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19255064 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22545084 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12723 VSX1 is_implicated_in DOID:2566 corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11978762 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12723 VSX1 is_implicated_in DOID:2566 corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15051220 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7975 NR2F1 is_implicated_in DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16513 TMC1 is_implicated_in DOID:0110563 autosomal dominant nonsyndromic deafness 36 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18222012 20200819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_implicated_in DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9118 PMP22 is_implicated_in DOID:0060843 hereditary neuropathy with liability to pressure palsies ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18391 SCGB3A2 is_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21410962 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17855454 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:0111503 Li-Fraumeni syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11355 STAG2 is_implicated_in DOID:0111845 Mullegama-Klein-Martinez syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11122 SMPX is_implicated_in DOID:0111735 X-linked deafness 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9765 RAB24 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23990947 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28977835 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12029 TRAC is_implicated_in DOID:0111977 immunodeficiency 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7146 TRPM1 is_implicated_in DOID:0110867 congenital stationary night blindness 1C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7993211 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9587927 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1684223 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8912967 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16180699 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22842402 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11853584 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9376 PRKAA1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22562547 20120622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:8567 Hodgkin's lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10340377 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:8567 Hodgkin's lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10556199 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7687 NDUFA4 is_implicated_in DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8582 PAH is_implicated_in DOID:9281 phenylketonuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8582 PAH is_implicated_in DOID:9281 phenylketonuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2884570 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8582 PAH is_implicated_in DOID:9281 phenylketonuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8829656 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8124 OGDH is_implicated_in DOID:0081326 oxoglutarate dehydrogenase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 is_implicated_in DOID:0110412 retinitis pigmentosa 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7961 NR0B2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18781616 20090724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25204082 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21283084 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10955 SLCO2A1 is_implicated_in DOID:14283 primary hypertrophic osteoarthropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210707 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16872 SLC35B2 is_implicated_in DOID:0070403 hypomyelinating leukodystrophy 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_implicated_in DOID:7474 malignant pleural mesothelioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26928227 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19604112 20101018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10590 SCN3A is_implicated_in DOID:2234 focal epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10468 RTN2 is_implicated_in DOID:0110765 hereditary spastic paraplegia 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7590 MYLK is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25774 TCTN2 is_implicated_in DOID:0110993 Joubert syndrome 24 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8028 NTHL1 is_implicated_in DOID:0080411 familial adenomatous polyposis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN is_implicated_in DOID:0110430 dilated cardiomyopathy 1G ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 is_implicated_in DOID:0110432 dilated cardiomyopathy 1NN ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21055 MTHFD1L is_implicated_in DOID:0080074 neural tube defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19777576 20170711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7551 MYBPC3 is_implicated_in DOID:0080326 familial hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16004897 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7551 MYBPC3 is_implicated_in DOID:0080326 familial hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9562578 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7551 MYBPC3 is_implicated_in DOID:0080326 familial hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12110947 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7551 MYBPC3 is_implicated_in DOID:0080326 familial hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9048664 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7983 NR5A1 is_implicated_in DOID:0070169 spermatogenic failure 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8926 PHKA2 is_implicated_in DOID:0111042 glycogen storage disease IXa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8926 PHKA2 is_implicated_in DOID:0111042 glycogen storage disease IXa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8733134 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8926 PHKA2 is_implicated_in DOID:0111042 glycogen storage disease IXa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28627441 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8926 PHKA2 is_implicated_in DOID:0111042 glycogen storage disease IXa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28283841 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11276 SPTBN2 is_implicated_in DOID:0050882 spinocerebellar ataxia type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22585858 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:12783 migraine without aura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14718719 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9399 PRKCD is_implicated_in DOID:0110119 autoimmune lymphoproliferative syndrome type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A is_implicated_in DOID:0110543 autosomal dominant nonsyndromic deafness 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0090023 split hand-foot malformation 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11462173 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0090023 split hand-foot malformation 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0090023 split hand-foot malformation 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23736768 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23625 RUSC2 is_implicated_in DOID:0080239 autosomal recessive intellectual developmental disorder 61 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18585932 20200930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20361 SPTSSA is_implicated_in DOID:0070460 hereditary spastic paraplegia 90B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230726 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7908 NPHS1 is_implicated_in DOID:0080390 nephrotic syndrome type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200805 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:1926 Gaucher's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15919211 20170515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29203 TBC1D24 is_implicated_in DOID:0060475 myoclonic-atonic epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23526554 20161005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_implicated_in DOID:0080219 dystransthyretinemic hyperthyroxinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11634 TCF4 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21176 RMND1 is_implicated_in DOID:0111481 combined oxidative phosphorylation deficiency 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18549840 20111123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9071 PLG is_implicated_in DOID:14735 hereditary angioedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210616 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15936 NCOA6 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10567404 20141114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11609 TBXAS1 is_implicated_in DOID:0112251 Ghosal hematodiaphyseal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11769 TGFB3 is_implicated_in DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2464 VCAN is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16917090 20061201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7744 NEK1 is_implicated_in DOID:0081378 amyotrophic lateral sclerosis type 24 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10298 RPL10 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18340 WDR19 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220518 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10961 SLCO1B3 is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29054076 20220621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22965 PEX26 is_implicated_in DOID:0080482 peroxisome biogenesis disorder 7A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9081 PLOD1 is_implicated_in DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12303 TRIO is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200408 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_not_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19763595 20140120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 is_implicated_in DOID:0111945 immunodeficiency 31A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10994 SLC26A2 is_implicated_in DOID:2300 spondylolysis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26077908 20170822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10975 SLC24A1 is_implicated_in DOID:0110868 congenital stationary night blindness 1D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7432 MTHFD1 is_not_implicated_in DOID:14250 Down syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22339736 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21020 QRSL1 is_implicated_in DOID:0112117 combined oxidative phosphorylation deficiency 40 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200429 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16399992 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13998 PRDM13 is_implicated_in DOID:0060264 pontocerebellar hypoplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220629 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10484 RYR2 is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8589694 20070122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10484 RYR2 is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11159936 20070122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19104 NPHP4 is_implicated_in DOID:0050576 Senior-Loken syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7905 NPHP1 is_implicated_in DOID:12712 nephronophthisis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17855640 20160929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9673 PTPRJ is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19672627 20220510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19139 POMGNT1 is_implicated_in DOID:0050560 Walker-Warburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22554691 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19139 POMGNT1 is_implicated_in DOID:0050560 Walker-Warburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23689641 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19139 POMGNT1 is_implicated_in DOID:0050560 Walker-Warburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11709191 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19139 POMGNT1 is_implicated_in DOID:0050560 Walker-Warburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15236414 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 is_implicated_in DOID:0111427 restrictive cardiomyopathy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20692 TPH2 is_implicated_in DOID:594 panic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17123728 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11608 TBXA2R is_implicated_in DOID:2218 blood platelet disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11608 TBXA2R is_implicated_in DOID:2218 blood platelet disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7929844 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 is_implicated_in DOID:0110320 hypertrophic cardiomyopathy 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET is_implicated_in DOID:0080204 renal hypoplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18820179 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19456854 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17284 POT1 is_implicated_in DOID:6846 familial melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231004 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:13550 angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19936026 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:0050848 obstructive sleep apnea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18651156 20110131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18053 PKD1L1 is_implicated_in DOID:0050545 visceral heterotaxy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7660 NCF1 is_implicated_in DOID:1928 Williams-Beuren syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16532385 20070510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9160 PNMT is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14553966 20110406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_implicated_in DOID:2512 nevoid basal cell carcinoma syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19557015 20170728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_implicated_in DOID:2512 nevoid basal cell carcinoma syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12925203 20170728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_implicated_in DOID:2512 nevoid basal cell carcinoma syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21514272 20170728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17068 PALLD is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17194196 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17068 PALLD is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:12120 pulmonary alveolar proteinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16636344 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23638916 20140207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10994 SLC26A2 is_implicated_in DOID:0080055 achondrogenesis type IB ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10994 SLC26A2 is_implicated_in DOID:0080055 achondrogenesis type IB ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8528239 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8743 PCSK1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9207799 20070412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10259 RORB is_implicated_in DOID:0111316 idiopathic generalized epilepsy 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190904 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10471 RUNX1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200624 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18083 TRPV4 is_implicated_in DOID:0111514 metatropic dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24961829 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25678841 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11772 TGFBR1 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17613544 20090402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11194 SOX18 is_implicated_in DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180405 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19493231 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9719 PEX5 is_implicated_in DOID:0080622 peroxisome biogenesis disorder 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30650 STRA6 is_implicated_in DOID:0111807 syndromic microphthalmia 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19309693 20221028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30650 STRA6 is_implicated_in DOID:0111807 syndromic microphthalmia 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25382 TMEM126A is_implicated_in DOID:0111437 optic atrophy 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:0111383 autosomal dominant keratitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:0111383 autosomal dominant keratitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7668281 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9607212 20200813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9040583 20120905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 is_implicated_in DOID:0111944 immunodeficiency 31B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18398 SMARCAD1 is_implicated_in DOID:0080725 BASAN syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16639 SRRM2 is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230712 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_implicated_in DOID:0111683 neurofibromatosis-Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9674630 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18155 TXNRD2 is_implicated_in DOID:0080620 familial glucocorticoid deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23908149 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31935503 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10769 SF3B2 is_implicated_in DOID:2907 Goldenhar syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220316 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11123422 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_implicated_in DOID:0070234 Loeys-Dietz syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A is_implicated_in DOID:13884 sick sinus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26031 PIGV is_implicated_in DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26031 PIGV is_implicated_in DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20802478 20230329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12410 TUBA8 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220504 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:2626 choroid plexus papilloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13436 RPGRIP1 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11283794 20070207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18711258 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18811622 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18763028 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16728705 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19196817 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10987279 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27614952 20200929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16613914 20160211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9006 PITX3 is_implicated_in DOID:0080606 anterior segment dysgenesis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14468 SLC26A8 is_implicated_in DOID:0070168 spermatogenic failure 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:0060009 MHC class I deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9498 PSAP is_implicated_in DOID:0110961 atypical Gaucher's disease due to saposin c deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7645 NAT1 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18006927 20140428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7645 NAT1 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18499698 20140428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23300018 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11461072 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14749534 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10908 SLC11A2 is_implicated_in DOID:2355 anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17510944 20120302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 is_implicated_in DOID:234 colon adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22121102 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11741 TFAM is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17537576 20120716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11741 TFAM is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18248889 20120716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:6846 familial melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15934088 20130815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15352422 20130815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7631 NAGA is_implicated_in DOID:2367 neuroaxonal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2243144 20070314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15934099 20120622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33551 NDUFAF8 is_implicated_in DOID:0112091 nuclear type mitochondrial complex I deficiency 34 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26992 SPNS2 is_implicated_in DOID:0111643 autosomal recessive nonsyndromic deafness 115 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190626 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:0110383 retinitis pigmentosa 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16268 PNPLA6 is_implicated_in DOID:0111265 Boucher-Neuhauser syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21165553 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23987 NDUFA12 is_implicated_in DOID:0112087 nuclear type mitochondrial complex I deficiency 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 is_implicated_in DOID:3429 inclusion body myositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11114175 20070313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_implicated_in DOID:0090018 autosomal dominant familial periodic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18550614 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15315329 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15817713 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11589345 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19104 NPHP4 is_implicated_in DOID:0111115 nephronophthisis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14750102 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19104 NPHP4 is_implicated_in DOID:0111115 nephronophthisis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19104 NPHP4 is_implicated_in DOID:0111115 nephronophthisis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18076122 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19104 NPHP4 is_implicated_in DOID:0111115 nephronophthisis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12205563 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12632 USP9X is_implicated_in DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19212205 20180102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11950 TNNT3 is_implicated_in DOID:0111601 distal arthrogryposis type 2B2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200228 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:0110838 Usher syndrome type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10729113 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:0110838 Usher syndrome type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9624053 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:0110838 Usher syndrome type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20692 TPH2 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28128 TMEM107 is_implicated_in DOID:0080254 orofaciodigital syndrome XVI ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9317 PPP3R1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23727081 20181207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7758 NEU1 is_implicated_in DOID:0080488 mucolipidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11280 SQSTM1 is_implicated_in DOID:5408 Paget's disease of bone ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11992264 20070117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET is_implicated_in DOID:10016 multiple endocrine neoplasia type 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9689 PTS is_implicated_in DOID:0090106 BH4-deficient hyperphenylalaninemia A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11188 SOS2 is_implicated_in DOID:0060587 Noonan syndrome 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14627677 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11834836 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11609 TBXAS1 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19403042 20160415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 is_implicated_in DOID:0060747 Duane-radial ray syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180425 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12649 VAPB is_implicated_in DOID:12377 spinal muscular atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15372378 20120221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12513 UCHL1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9160 PNMT is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11378842 20110407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26257 PDZD7 is_implicated_in DOID:0110839 Usher syndrome type 2C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15751 NAPB is_implicated_in DOID:0070393 developmental and epileptic encephalopathy 107 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220921 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30791 UBIAD1 is_implicated_in DOID:0060456 Schnyder corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20611 SLC24A5 is_implicated_in DOID:0080614 oculocutaneous albinism type VI ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11556 TAL1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10596 SCN8A is_implicated_in DOID:0081118 benign familial infantile seizures 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16138564 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:9675 pulmonary emphysema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18670143 20101027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:11105 fundus albipunctatus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8485575 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:11105 fundus albipunctatus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14409 SLC25A19 is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:1024 leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15755200 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:1024 leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10608779 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28303 ODAD3 is_implicated_in DOID:0110624 primary ciliary dyskinesia 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8547 P4HA2 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_not_implicated_in DOID:0050848 obstructive sleep apnea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16215942 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_not_implicated_in DOID:0050848 obstructive sleep apnea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15867649 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0060770 dextro-looped transposition of the great arteries ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22868813 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7883 NOTCH3 is_implicated_in DOID:0111035 CADASIL 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:2355 anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25007187 20160520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12592 UROS is_implicated_in DOID:13271 cutaneous porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30454868 20200128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12592 UROS is_implicated_in DOID:13271 cutaneous porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2331520 20200128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12592 UROS is_implicated_in DOID:13271 cutaneous porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18172114 20140114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19628747 20140114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10857800 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10599 SCNN1A is_implicated_in DOID:0050477 Liddle syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10722 SELPLG is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22307784 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3656 MYOF is_implicated_in DOID:14735 hereditary angioedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210616 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7603 MYO5B is_implicated_in DOID:0070221 progressive familial intrahepatic cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220518 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11741 TFAM is_implicated_in DOID:0080337 mitochondrial DNA depletion syndrome 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29010 SETD1A is_implicated_in DOID:0070417 neurodevelopmental disorder with speech impairment and dysmorphic facies ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201216 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13867 SH3KBP1 is_implicated_in DOID:0111999 immunodeficiency 61 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190501 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1272 telangiectasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18027873 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15998 NAV3 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7631 NAGA is_implicated_in DOID:479 angiokeratoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8040340 20070314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9788 RAB7A is_implicated_in DOID:0110159 Charcot-Marie-Tooth disease type 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18423055 20090810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9008 PKD1 is_implicated_in DOID:0110858 polycystic kidney disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180725 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29843 NSMF is_implicated_in DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17235395 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9986 RFX5 is_implicated_in DOID:5812 MHC class II deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180207 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7982 NR4A3 is_implicated_in DOID:4549 extraskeletal myxoid chondrosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP is_implicated_in DOID:3429 inclusion body myositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15034582 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27365 TECRL is_implicated_in DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18273036 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20535138 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32401173 20220307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18774994 20120917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29666 MTFMT is_implicated_in DOID:0111491 combined oxidative phosphorylation deficiency 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30764 TRAIP is_implicated_in DOID:0070005 Seckel syndrome 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22205606 20120510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11274 SPTB is_implicated_in DOID:0110917 hereditary spherocytosis type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8654 PCCB is_implicated_in DOID:14701 propionic acidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26372813 20211217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18345 TENT5A is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25231575 20190220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18762 SLC36A2 is_implicated_in DOID:0112265 iminoglycinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7692 NDUFA8 is_implicated_in DOID:0112065 nuclear type mitochondrial complex I deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:0080016 spina bifida ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12375236 20111007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:0080016 spina bifida ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12590188 20111007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:4997 Camurati-Engelmann disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30287 RPTOR is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12572 UNG is_implicated_in DOID:11702 dysgammaglobulinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12958596 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 is_implicated_in DOID:10966 lipoid nephrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12900808 20130522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 is_implicated_in DOID:10966 lipoid nephrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19011907 20130522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_implicated_in DOID:3770 pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20656946 20100930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:11975 coloboma of optic nerve ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12692 VIM is_implicated_in DOID:0110248 cataract 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24539 NECAP1 is_implicated_in DOID:0080443 developmental and epileptic encephalopathy 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11948 TNNT1 is_implicated_in DOID:0110936 nemaline myopathy 5A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10952871 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11948 TNNT1 is_implicated_in DOID:0110936 nemaline myopathy 5A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:0050697 chorioamnionitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15128916 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10889 SIX3 is_implicated_in DOID:4621 holoprosencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15523651 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10889 SIX3 is_implicated_in DOID:4621 holoprosencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10369266 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18801 POGZ is_implicated_in DOID:0070067 White-Sutton syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17111197 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8133 OLR1 is_implicated_in DOID:9246 cerebral amyloid angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16328515 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15488805 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15774926 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12698 VLDLR is_implicated_in DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7467 MTTP is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15635487 20070611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:1580 diffuse scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16112028 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21686 RNASET2 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30883 TMEM126B is_implicated_in DOID:0112084 nuclear type mitochondrial complex I deficiency 29 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18408113 20140107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23595572 20130531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11389 STK11 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:0050439 Usher syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18452394 20140303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 is_implicated_in DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:1024 leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20350193 20111020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11444 STXBP1 is_implicated_in DOID:0080436 developmental and epileptic encephalopathy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20876469 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11444 STXBP1 is_implicated_in DOID:0080436 developmental and epileptic encephalopathy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18469812 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11444 STXBP1 is_implicated_in DOID:0080436 developmental and epileptic encephalopathy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9350 PRDM6 is_implicated_in DOID:13832 patent ductus arteriosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18340 WDR19 is_implicated_in DOID:0110089 asphyxiating thoracic dystrophy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8653 PCCA is_implicated_in DOID:9252 amino acid metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9385377 20070307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10425186 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12597 USH1C is_implicated_in DOID:0110826 Usher syndrome type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23251578 20140806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12597 USH1C is_implicated_in DOID:0110826 Usher syndrome type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21487335 20140806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12597 USH1C is_implicated_in DOID:0110826 Usher syndrome type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17407589 20140806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11742 TFAP2A is_implicated_in DOID:0050691 branchiooculofacial syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180725 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20042177 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12367 TSFM is_implicated_in DOID:0111486 combined oxidative phosphorylation deficiency 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14568 STK33 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26788504 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26068031 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28797847 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9865 RARB is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29851970 20181119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18286 RAX2 is_implicated_in DOID:0111018 cone-rod dystrophy 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13485 USP26 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8978 PIK3CG is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220413 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10602 SCNN1G is_implicated_in DOID:4479 pseudohypoaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8640238 20230308 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10602 SCNN1G is_implicated_in DOID:4479 pseudohypoaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230308 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9205 PON2 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12454802 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17301259 20080718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 is_implicated_in DOID:384 Wolff-Parkinson-White syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26284702 20170315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25507 VAC14 is_implicated_in DOID:4751 striatonigral degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16155110 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10586 SCN1B is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_implicated_in DOID:3319 lymphangioleiomyomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20639436 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_implicated_in DOID:3319 lymphangioleiomyomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10823953 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_implicated_in DOID:3319 lymphangioleiomyomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0080177 hepatic veno-occlusive disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24583625 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11538 TAF4B is_implicated_in DOID:0070182 spermatogenic failure 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11100 SMARCA4 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15287030 20081226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11257 SPR is_implicated_in DOID:0111168 sepiapterin reductase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10978 SLC24A4 is_implicated_in DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19177195 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12629116 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19738363 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19963 TTLL5 is_implicated_in DOID:0111025 cone-rod dystrophy 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14000 PRDM16 is_implicated_in DOID:0081157 dilated cardiomyopathy 1LL ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18923396 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16184603 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21819229 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:0050848 obstructive sleep apnea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19014073 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21576 NHLRC1 is_implicated_in DOID:3534 Lafora disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9122 PMS2 is_implicated_in DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18124 P2RY12 is_implicated_in DOID:0050830 peripheral artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14662702 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0111001 Joubert syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17160906 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0111001 Joubert syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13436 RPGRIP1 is_implicated_in DOID:0110329 Leber congenital amaurosis 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28472 TMEM43 is_implicated_in DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10909 SLC40A1 is_implicated_in DOID:0111028 hemochromatosis type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1348 SAMD9 is_implicated_in DOID:0080170 normophosphatemic familial tumoral calcinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17103 TNPO3 is_implicated_in DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9208 POR is_implicated_in DOID:0080925 cytochrome P450 oxidoreductase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11724 TEK is_implicated_in DOID:0050792 multiple cutaneous and mucosal venous malformations ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9896 RBM10 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33194656 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19619907 20161027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_not_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19128592 20101101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:61 mitral valve disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26813460 20210303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18419343 20110502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:12185 otosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23639864 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7775 NFATC1 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21499900 20230418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7775 NFATC1 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23286482 20230418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11363 STAT2 is_implicated_in DOID:0111975 immunodeficiency 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9084930 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11394896 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22616202 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18585914 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20956 PHACTR2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19429005 20120515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_not_implicated_in DOID:1273 respiratory syncytial virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17449325 20101008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:0060669 cerebral cavernous malformation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26122242 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7652 NBN is_implicated_in DOID:1993 rectum cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26735576 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_not_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9014588 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19731237 20200512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8522 OTX2 is_implicated_in DOID:0111806 syndromic microphthalmia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP is_implicated_in DOID:5408 Paget's disease of bone ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15034582 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13941 SLC44A4 is_implicated_in DOID:0080268 autosomal dominant nonsyndromic deafness 72 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11530 TACSTD2 is_implicated_in DOID:2566 corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10192395 20070119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24788313 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27244218 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25124163 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29120461 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32859741 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27612425 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16279845 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11134121 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20001 PCSK9 is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15772090 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20001 PCSK9 is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14727179 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20001 PCSK9 is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12730697 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20001 PCSK9 is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21526158 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19169411 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20606025 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10719815 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12135431 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7652 NBN is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11714651 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9206 PON3 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16319130 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18340 WDR19 is_implicated_in DOID:0050576 Senior-Loken syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18340 WDR19 is_implicated_in DOID:0050576 Senior-Loken syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23683095 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0111008 X-linked cone-rod dystrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0111008 X-linked cone-rod dystrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11875055 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0111008 X-linked cone-rod dystrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11857109 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26208 NSUN3 is_implicated_in DOID:0112112 combined oxidative phosphorylation deficiency 48 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200930 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7594 MYO15A is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9603736 20070314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5724 RBPJ is_implicated_in DOID:0060227 Adams-Oliver syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:8736 smallpox ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18454680 20210303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18145 PHF6 is_implicated_in DOID:0050681 Borjeson-Forssman-Lehmann syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:32940 NKX2-6 is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25319568 20230117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9611 PTK2 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16244766 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 is_implicated_in DOID:9245 Alagille syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 is_implicated_in DOID:9245 Alagille syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16773578 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16400 NLRP3 is_implicated_in DOID:0090062 familial cold autoinflammatory syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21664963 20170911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25685788 20170911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26540116 20170911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26262 TTI2 is_implicated_in DOID:0081204 autosomal recessive intellectual developmental disorder 39 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19689 RD3 is_implicated_in DOID:0110080 Leber congenital amaurosis 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20862 SLC39A8 is_implicated_in DOID:0070266 congenital disorder of glycosylation type IIn ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11142 SIK1 is_implicated_in DOID:0080465 developmental and epileptic encephalopathy 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_not_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26042510 20231006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_not_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9399694 20231006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_implicated_in DOID:0111580 Behr syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9091 PLS3 is_implicated_in DOID:3827 congenital diaphragmatic hernia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231122 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12723 VSX1 is_not_implicated_in DOID:10126 keratoconus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17960127 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12723 VSX1 is_not_implicated_in DOID:10126 keratoconus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18216574 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21686 RNASET2 is_implicated_in DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9592 PTGDS is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15325247 20071002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19977 RDH12 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15322982 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11771 TGFBI is_implicated_in DOID:0060447 epithelial basement membrane dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF is_implicated_in DOID:0050649 atransferrinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9802 RAC2 is_implicated_in DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:37 skin disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21357384 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_implicated_in DOID:5522 basaloid squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25395299 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17996 NAGS is_implicated_in DOID:0112258 N-acetylglutamate synthase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15102713 20220411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12424586 20220411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26045806 20220411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17264398 20220411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9586 PTCH2 is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15887980 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14578307 20090819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28027 WDPCP is_implicated_in DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25388852 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30611 STT3B is_implicated_in DOID:0080573 congenital disorder of glycosylation Ix ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11714 TEAD1 is_implicated_in DOID:0111228 Sveinsson chorioretinal atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10979 SLC25A1 is_implicated_in DOID:0050573 2-hydroxyglutaric aciduria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23561848 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25543 SHQ1 is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220629 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19111066 20180216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8966 PIGL is_implicated_in DOID:0112152 CHIME syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22444671 20230329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8966 PIGL is_implicated_in DOID:0112152 CHIME syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:0110233 cataract 27 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22393272 20141020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10985 SLC25A15 is_implicated_in DOID:9252 amino acid metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10369256 20070122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10985 SLC25A15 is_implicated_in DOID:9252 amino acid metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10805333 20070122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8002 NRL is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11879142 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7713 NDUFS6 is_implicated_in DOID:0112073 nuclear type mitochondrial complex I deficiency 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21131644 20120622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29559562 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25224212 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29659608 20220204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14948 RCC1L is_implicated_in DOID:1928 Williams-Beuren syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12073013 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25094 MTSS2 is_implicated_in DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221102 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10981 SLC25A11 is_implicated_in DOID:0050773 paraganglioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190710 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26338826 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10872 ST3GAL5 is_implicated_in DOID:0060470 salt and pepper syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15604415 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 is_implicated_in DOID:11199 hypoparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32110744 20221102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24488901 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17563923 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:13207 proliferative diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16416371 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:1580 diffuse scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21905008 20140506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11776 TGIF1 is_implicated_in DOID:0110880 holoprosencephaly 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10833424 20110602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10673365 20110602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14767694 20110602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20609134 20110602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32528 PRCD is_implicated_in DOID:0110405 retinitis pigmentosa 36 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14234 NSD1 is_implicated_in DOID:0112103 Sotos syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26190642 20190521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11807372 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:11123 Henoch-Schoenlein purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19967651 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10603 SCO1 is_implicated_in DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_implicated_in DOID:1936 atherosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12590019 20130820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10912 SLC12A3 is_implicated_in DOID:0050450 Gitelman syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10912 SLC12A3 is_implicated_in DOID:0050450 Gitelman syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16221718 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29174 WASHC4 is_implicated_in DOID:0081207 autosomal recessive intellectual developmental disorder 43 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24154872 20211129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26629180 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11799 THRB is_implicated_in DOID:3459 breast carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2573734 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_implicated_in DOID:3204 schwannomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29409008 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_implicated_in DOID:3204 schwannomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22038540 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_implicated_in DOID:3204 schwannomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28365909 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11843 TLL1 is_implicated_in DOID:0110111 atrial heart septal defect 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18830233 20230202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11843 TLL1 is_implicated_in DOID:0110111 atrial heart septal defect 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27418595 20230202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11843 TLL1 is_implicated_in DOID:0110111 atrial heart septal defect 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:2671 transitional cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21046286 20120831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26300 ODAPH is_implicated_in DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18028 OSGEP is_implicated_in DOID:0080245 Galloway-Mowat syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_not_implicated_in DOID:9008 psoriatic arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15934099 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:2154 nephroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10760569 20080331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24925220 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12305 TRIP11 is_implicated_in DOID:0080054 achondrogenesis type IA ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:0050632 oculocutaneous albinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1642278 20140801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:0050632 oculocutaneous albinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22294196 20140801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11947 TNNI3 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15070570 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_not_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20360187 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11067 SLC7A9 is_implicated_in DOID:9266 cystinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10471498 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11067 SLC7A9 is_implicated_in DOID:9266 cystinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25812 SRD5A3 is_implicated_in DOID:0050807 Kahrizi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19316 P3H1 is_implicated_in DOID:0110336 osteogenesis imperfecta type 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:1040 chronic lymphocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23287625 20160914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8008 NRXN1 is_implicated_in DOID:0111332 Pitt-Hopkins-like syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31940240 20231009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12884528 20110512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17442289 20110512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22213323 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12962917 20181204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16516271 20181204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16908746 20181204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18992723 20181204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21737517 20130121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16890863 20070503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26274 NARS2 is_implicated_in DOID:0111485 combined oxidative phosphorylation deficiency 24 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30832 TRAPPC9 is_implicated_in DOID:0081098 autosomal recessive intellectual developmental disorder 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:0111531 bilateral optic nerve hypoplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9066 PLCG2 is_implicated_in DOID:0090064 familial cold autoinflammatory syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22560646 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23510418 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10006 RHAG is_implicated_in DOID:0111562 overhydrated hereditary stomatocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21479364 20110610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19596483 20110610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7516 MUC5B is_implicated_in DOID:0050156 idiopathic pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:218 ascending colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33125191 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:218 ascending colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28404093 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:218 ascending colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27612425 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10586 SCN1B is_implicated_in DOID:0110222 Brugada syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16472 SLC45A2 is_implicated_in DOID:10123 pigmentation disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200506 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10294 RPE65 is_implicated_in DOID:0112144 retinitis pigmentosa 87 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24720952 20190628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12770792 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15875188 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25118 OTULIN is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7981 NR4A2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11914402 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12015 TPO is_implicated_in DOID:0112186 thyroid dyshormonogenesis 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13444 SLC2A10 is_implicated_in DOID:0050645 arterial tortuosity syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30420492 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:1024 leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18177245 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:1024 leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11608 TBXA2R is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12000493 20160415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11608 TBXA2R is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15805995 20160415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:0050661 vitelliform macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9338584 20190227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:0050661 vitelliform macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12566026 20190227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:0050661 vitelliform macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15370544 20190227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:0050661 vitelliform macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16268 PNPLA6 is_implicated_in DOID:0110790 hereditary spastic paraplegia 39 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7525 MUSK is_implicated_in DOID:0111377 fetal akinesia deformation sequence syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11877 TMPRSS3 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11137999 20070205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30022 PPARGC1B is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16759305 20070921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11741 TFAM is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21595933 20120713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15974 TRIM2 is_implicated_in DOID:0110161 Charcot-Marie-Tooth disease type 2R ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11161 SNRPE is_implicated_in DOID:0110708 hypotrichosis 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:3347 osteosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 is_implicated_in DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 is_implicated_in DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12060139 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8609 PARN is_implicated_in DOID:0070024 autosomal recessive dyskeratosis congenita 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18340 WDR19 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23683095 20161012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10739 SEMA6B is_implicated_in DOID:891 progressive myoclonus epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1160 TWNK is_implicated_in DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_implicated_in DOID:0111340 dominant optic atrophy plus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:22407 TMEM106B is_implicated_in DOID:0070405 hypomyelinating leukodystrophy 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7670 NCOA3 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14557830 20070829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14737040 20190722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17899317 20190722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19520684 20190722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25664255 20190722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19139 POMGNT1 is_implicated_in DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190703 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29605 SH2B3 is_implicated_in DOID:0060652 familial erythrocytosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19395279 20090819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10701 SEC23A is_implicated_in DOID:0070307 craniolenticulosutural dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:0080123 mitochondrial DNA depletion syndrome 4b ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10780318 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11290 SREBF2 is_implicated_in DOID:1115 sarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31089155 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8818 SLC26A4 is_implicated_in DOID:0060744 Pendred Syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15355436 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8818 SLC26A4 is_implicated_in DOID:0060744 Pendred Syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14508505 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8818 SLC26A4 is_implicated_in DOID:0060744 Pendred Syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9456 PROS1 is_implicated_in DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28385 VWA3B is_implicated_in DOID:0111614 autosomal recessive spinocerebellar ataxia 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10031 RMRP is_implicated_in DOID:0050640 anauxetic dysplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30761 TTC21A is_implicated_in DOID:0111927 spermatogenic failure 37 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190612 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25481 TRMU is_implicated_in DOID:0111734 aminoglycoside-induced deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10418 RPS28 is_implicated_in DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11600 TBX22 is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12374769 20070131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20045654 20130212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:8544 chronic fatigue syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14592408 20200730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:8544 chronic fatigue syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26473596 20200730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18340647 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11929588 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_implicated_in DOID:2870 endometrial adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21478295 20180816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_implicated_in DOID:9470 bacterial meningitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21651918 20111206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14733962 20070125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9706 NECTIN1 is_implicated_in DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:1040 chronic lymphocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26254371 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21888617 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25804798 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11030 SLC4A4 is_implicated_in DOID:14219 renal tubular acidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10545938 20070226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8978 PIK3CG is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14627686 20120426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19705749 20110610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10591 SCN4A is_implicated_in DOID:0110682 congenital myasthenic syndrome 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28803429 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25347427 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31609782 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9160 PNMT is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11958827 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:10933 obsessive-compulsive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:10933 obsessive-compulsive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14593431 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26221384 20181005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10908 SLC11A2 is_implicated_in DOID:11759 hypochromic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16439678 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16642031 20170714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28952 NCAPD3 is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN is_implicated_in DOID:0081341 congenital myopathy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15632890 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11389 STK11 is_implicated_in DOID:6846 familial melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15883815 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16540234 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12377412 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10936 SLC18A3 is_implicated_in DOID:0110672 congenital myasthenic syndrome 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22065928 20131023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9416 PRKG2 is_implicated_in DOID:0081238 acromesomelic dysplasia-4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17398378 20120911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8002 NRL is_implicated_in DOID:0110397 retinitis pigmentosa 27 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16059695 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21128323 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:1681 heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22179537 20130529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29245274 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26735576 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16123422 20131218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22738935 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22762534 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15917 PLCB1 is_implicated_in DOID:0080459 developmental and epileptic encephalopathy 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10023 RIT1 is_implicated_in DOID:0080690 RASopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26714497 20221028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10982 SLC25A12 is_not_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17151801 20180621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8507 OSMR is_implicated_in DOID:0080930 primary localized cutaneous amyloidosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:10548 cardia cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24615072 20200813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9386 PRKAG2 is_implicated_in DOID:2747 glycogen storage disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15877279 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15470196 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32772383 20231009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8617 PAX3 is_implicated_in DOID:0111336 craniofacial-deafness-hand syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9354 PRDX3 is_implicated_in DOID:0070413 autosomal recessive spinocerebellar ataxia 32 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220518 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19017358 20110706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1540 SERPINA6 is_implicated_in DOID:0090030 corticosteroid-binding globulin deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:1273 respiratory syncytial virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17709532 20101008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:1273 respiratory syncytial virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17264400 20101008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19286 SCYL2 is_implicated_in DOID:0080980 arthrogryposis multiplex congenita-4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200318 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15265022 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7525 MUSK is_implicated_in DOID:0110670 congenital myasthenic syndrome 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14304 UNC45B is_implicated_in DOID:0110259 cataract 43 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19918 MYORG is_implicated_in DOID:0060230 basal ganglia calcification ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20352242 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20299531 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12537602 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11179116 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8923 PHGDH is_implicated_in DOID:0050722 PHGDH deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:11446 sciatic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21489258 20140520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9277 PPM1D is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180711 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 is_implicated_in DOID:0110736 neurodegeneration with brain iron accumulation 2b ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15090455 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19954 SLC25A22 is_implicated_in DOID:0080440 developmental and epileptic encephalopathy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP is_implicated_in DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11809160 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15971 TSG101 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10930114 20080401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15971 TSG101 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10618725 20080401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18084 TRPV3 is_implicated_in DOID:10024 migraine with aura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22162417 20121212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10432 RPS6KA3 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10319851 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10432 RPS6KA3 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8955270 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12565 UNC119 is_implicated_in DOID:0111987 immunodeficiency 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200826 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20171599 20130125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8153 OPRD1 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28656735 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8153 OPRD1 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24086514 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_implicated_in DOID:5723 optic atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16735988 20140116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9402 PRKCG is_implicated_in DOID:0050964 spinocerebellar ataxia type 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11772 TGFBR1 is_implicated_in DOID:0070235 Loeys-Dietz syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_implicated_in DOID:8584 Burkitt lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8220424 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_implicated_in DOID:8584 Burkitt lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8397370 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_implicated_in DOID:8584 Burkitt lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1343 TRAF3IP2 is_implicated_in DOID:2058 chronic mucocutaneous candidiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24316 TACO1 is_implicated_in DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12348 TRU-TCA1-1 is_implicated_in DOID:50 thyroid gland disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 is_implicated_in DOID:0050560 Walker-Warburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16575835 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 is_implicated_in DOID:0050560 Walker-Warburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12369018 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 is_implicated_in DOID:0050560 Walker-Warburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15637732 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0060782 EEC syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11462173 20161208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0060782 EEC syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15324320 20161208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0060782 EEC syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25983622 20161208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0060782 EEC syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19903181 20161208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28387921 20191029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27323394 20191029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19129 PSAT1 is_implicated_in DOID:0080075 Neu-Laxova syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:1681 heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12112663 20150206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16255 TGM6 is_implicated_in DOID:0050982 spinocerebellar ataxia type 35 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24519 TCTN3 is_implicated_in DOID:0060374 orofaciodigital syndrome IV ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20422457 20110425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:10603 glucose intolerance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19034419 20140417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19950257 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19644887 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 is_implicated_in DOID:0110453 dilated cardiomyopathy 1EE ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12974 RNF113A is_implicated_in DOID:0111868 nonphotosensitive trichothiodystrophy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9388 PRKAR1A is_implicated_in DOID:0050471 Carney complex ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 is_implicated_in DOID:13515 tuberous sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25900779 20161215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 is_implicated_in DOID:13515 tuberous sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9242607 20161215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 is_implicated_in DOID:13515 tuberous sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16114042 20161215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:1229 paranoid schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10376119 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19796535 20140430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11494 SYN1 is_implicated_in DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18391 SCGB3A2 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18201431 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9208 POR is_implicated_in DOID:0050811 congenital adrenal hyperplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17505056 20101129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18016 NUP133 is_implicated_in DOID:0080694 Galloway-Mowat syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20371 NDUFA11 is_implicated_in DOID:2033 communication disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20361 SPTSSA is_implicated_in DOID:0070459 hereditary spastic paraplegia 90A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230726 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12033 TRAF3 is_implicated_in DOID:936 brain disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:37234 TMEM231 is_implicated_in DOID:0110989 Joubert syndrome 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20859 SLC39A13 is_implicated_in DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18513683 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20859 SLC39A13 is_implicated_in DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26348 SEPTIN12 is_implicated_in DOID:0070178 spermatogenic failure 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:11394 adult respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16135717 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11120 SMPD1 is_implicated_in DOID:0070111 Niemann-Pick disease type A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:3012 Li-Fraumeni syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1631137 20080318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18345 TENT5A is_implicated_in DOID:0111848 osteogenesis imperfecta type 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11585 TBL1X is_implicated_in DOID:0111837 congenital nongoitrous hypothyroidism 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191009 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8846 PER2 is_implicated_in DOID:0110011 advanced sleep phase syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_implicated_in DOID:11204 allergic conjunctivitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18305139 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10908 SLC11A2 is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21276595 20120301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20428114 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21613650 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11465 SUPT16H is_implicated_in DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211027 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11813 TIMELESS is_implicated_in DOID:0050628 advanced sleep phase syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220831 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9453 PRODH is_implicated_in DOID:9252 amino acid metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12217952 20070119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:0080176 meningococcal meningitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23691182 20140115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11764 TG is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14657345 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11764 TG is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12731 WAS is_implicated_in DOID:9169 Wiskott-Aldrich syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8069912 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12731 WAS is_implicated_in DOID:9169 Wiskott-Aldrich syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9253 PPIA is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17590083 20210901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:12558 chronic progressive external ophthalmoplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17420318 20140729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:12558 chronic progressive external ophthalmoplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16401742 20140729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:12558 chronic progressive external ophthalmoplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11431686 20140729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:12558 chronic progressive external ophthalmoplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12975295 20140729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:12558 chronic progressive external ophthalmoplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12565911 20140729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14674 PCDH15 is_implicated_in DOID:0110831 Usher syndrome type 1D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26575 PRIMPOL is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:4247 coronary restenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16319143 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15925 SAMHD1 is_implicated_in DOID:0050629 Aicardi-Goutieres syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_implicated_in DOID:7474 malignant pleural mesothelioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33209614 20211112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24255044 20140430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9045 PLAG1 is_implicated_in DOID:452 pleomorphic adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10029085 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9045 PLAG1 is_implicated_in DOID:452 pleomorphic adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7599 MYO1E is_implicated_in DOID:0111131 focal segmental glomerulosclerosis 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7432 MTHFD1 is_implicated_in DOID:0080074 neural tube defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25524527 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7432 MTHFD1 is_implicated_in DOID:0080074 neural tube defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16315005 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8840 PEPD is_implicated_in DOID:0111540 prolidase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8854 PEX12 is_implicated_in DOID:0081241 peroxisome biogenesis disorder 3B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180425 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:0050973 spinocerebellar ataxia type 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23631 NPSR1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20179762 20110121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10806 SGCB is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9631401 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29558 NUAK2 is_implicated_in DOID:0060668 anencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210728 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7645 NAT1 is_implicated_in DOID:4404 occupational dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19834256 20140425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12469 UBA1 is_implicated_in DOID:0111827 X-linked spinal muscular atrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24116 RNASEH2C is_implicated_in DOID:0050629 Aicardi-Goutieres syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11566 TAPBP is_implicated_in DOID:0060009 MHC class I deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18340 WDR19 is_implicated_in DOID:0050876 Caroli disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25726036 20161012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11130769 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28478978 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23063 NUDT15 is_implicated_in DOID:0080172 thiopurine S-methyltransferase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21951018 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24320988 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:0110827 Usher syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17405132 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:0110827 Usher syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18665195 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:0110827 Usher syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22009552 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:0110827 Usher syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12112664 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:0110827 Usher syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15025721 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23096 SLC29A3 is_implicated_in DOID:0111278 histiocytosis-lymphadenopathy plus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11355 STAG2 is_implicated_in DOID:4621 holoprosencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200429 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 is_implicated_in DOID:5052 melioidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 is_implicated_in DOID:9478 postpartum depression ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15544576 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10820 SH2D1A is_implicated_in DOID:0060705 X-linked lymphoproliferative syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200619 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20109474 20120510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22269120 20120510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9005 PITX2 is_implicated_in DOID:0111548 ring dermoid of cornea ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11025 SLC3A1 is_implicated_in DOID:9266 cystinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11025 SLC3A1 is_implicated_in DOID:9266 cystinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8054986 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_implicated_in DOID:0060203 amyotrophic lateral sclerosis type 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21642 VARS2 is_implicated_in DOID:0111478 combined oxidative phosphorylation deficiency 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16703578 20110125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11777 TGM1 is_implicated_in DOID:0060656 autosomal recessive congenital ichthyosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11777 TGM1 is_implicated_in DOID:0060656 autosomal recessive congenital ichthyosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7824952 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29914 NUP107 is_implicated_in DOID:0080385 nephrotic syndrome type 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8818 SLC26A4 is_implicated_in DOID:0110498 autosomal recessive nonsyndromic deafness 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19509082 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8818 SLC26A4 is_implicated_in DOID:0110498 autosomal recessive nonsyndromic deafness 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18167283 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8818 SLC26A4 is_implicated_in DOID:0110498 autosomal recessive nonsyndromic deafness 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8818 SLC26A4 is_implicated_in DOID:0110498 autosomal recessive nonsyndromic deafness 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11317356 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16287 NFU1 is_implicated_in DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7590 MYLK is_implicated_in DOID:11394 adult respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18828194 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9823 RAD51D is_implicated_in DOID:5683 hereditary breast ovarian cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17075 TAB2 is_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28464518 20221115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17075 TAB2 is_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29700987 20221115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9870 RARS1 is_implicated_in DOID:0060791 hypomyelinating leukodystrophy 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11795 THPO is_implicated_in DOID:2224 essential thrombocythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11795 THPO is_implicated_in DOID:2224 essential thrombocythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9425899 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4502 PTGDR2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19392992 20110708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4502 PTGDR2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19796209 20110708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14311 NUAK1 is_implicated_in DOID:13223 uterine fibroid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7983 NR5A1 is_implicated_in DOID:0080864 primary ovarian insufficiency 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7974 NR2E3 is_implicated_in DOID:0090059 enhanced S-cone syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10583 SCN11A is_implicated_in DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_implicated_in DOID:2280 hidradenitis suppurativa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210721 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:27962 STING1 is_implicated_in DOID:0111457 STING-associated vasculopathy with onset in infancy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10783 SRSF2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22431577 20160229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9446 PRLR is_implicated_in DOID:12700 hyperprolactinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25479076 20230612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17418914 20181109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21098972 20181109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20193474 20101025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19103526 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11632 TCF21 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28346832 20230428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10809 SGCG is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28123479 20180611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9445 PRL is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17626900 20071001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7530 MVK is_implicated_in DOID:3805 porokeratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:0050073 invasive aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18275280 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20080 USP45 is_implicated_in DOID:0081169 Leber congenital amaurosis 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190814 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20972907 20170330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16 SERPINA3 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8244391 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16 SERPINA3 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10849024 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:2121 ectodermal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22574117 20161208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_implicated_in DOID:3507 dermatofibrosarcoma protuberans ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12641779 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_implicated_in DOID:3507 dermatofibrosarcoma protuberans ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:4449 macular retinal edema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15333482 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30064 PBRM1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32195359 20210823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_implicated_in DOID:6543 acne ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20861605 20140505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10432 RPS6KA3 is_implicated_in DOID:3783 Coffin-Lowry syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10973241 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15906 MYH7B is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32207065 20210816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17558844 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9958 REN is_implicated_in DOID:0060062 familial juvenile hyperuricemic nephropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17136115 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23940529 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19440165 20111007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11277 SPTLC1 is_implicated_in DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8905 PGM1 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:508567 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11918 TNFRSF4 is_implicated_in DOID:0111935 immunodeficiency 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9725 PYGL is_implicated_in DOID:3650 lactic acidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17705025 20200219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29843 NSMF is_implicated_in DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7605 MYO6 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11468689 20070314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17655928 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19689 RD3 is_implicated_in DOID:8466 retinal degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17186464 20161108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20837 PAOX is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31016788 20220407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7669 NCOA2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12676584 20141125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9305 PPP2R2B is_implicated_in DOID:0050962 spinocerebellar ataxia type 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19143814 20120403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_not_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23643325 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9086 PLP1 is_implicated_in DOID:3210 Pelizaeus-Merzbacher disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10425042 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9086 PLP1 is_implicated_in DOID:3210 Pelizaeus-Merzbacher disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19585101 20090812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26560 ODAD1 is_implicated_in DOID:0110625 primary ciliary dyskinesia 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8004 NRP1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25561764 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11634 TCF4 is_implicated_in DOID:11555 Fuchs' endothelial dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8515 OTOF is_implicated_in DOID:0110535 autosomal recessive nonsyndromic deafness 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10903124 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8515 OTOF is_implicated_in DOID:0110535 autosomal recessive nonsyndromic deafness 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10192385 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8515 OTOF is_implicated_in DOID:0110535 autosomal recessive nonsyndromic deafness 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16097006 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8515 OTOF is_implicated_in DOID:0110535 autosomal recessive nonsyndromic deafness 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20230791 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8515 OTOF is_implicated_in DOID:0110535 autosomal recessive nonsyndromic deafness 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22575033 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8515 OTOF is_implicated_in DOID:0110535 autosomal recessive nonsyndromic deafness 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14635104 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8515 OTOF is_implicated_in DOID:0110535 autosomal recessive nonsyndromic deafness 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8515 OTOF is_implicated_in DOID:0110535 autosomal recessive nonsyndromic deafness 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22906306 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8515 OTOF is_implicated_in DOID:0110535 autosomal recessive nonsyndromic deafness 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12114484 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10729 SEMA4A is_implicated_in DOID:0110357 retinitis pigmentosa 35 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10821 SH2D2A is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18554728 20080729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10821 SH2D2A is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11528519 20080729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17663 PITRM1 is_implicated_in DOID:0070411 autosomal recessive spinocerebellar ataxia 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210728 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:437 myasthenia gravis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19693092 20120702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10602 SCNN1G is_implicated_in DOID:0080528 bronchiectasis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10050 RNASEL is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15040862 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10050 RNASEL is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12415269 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17284 POT1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32586834 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17284 POT1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27459707 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30563 PARS2 is_implicated_in DOID:0112211 developmental and epileptic encephalopathy 75 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190612 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11598 TBX20 is_implicated_in DOID:1882 atrial heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26675025 20230131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA is_implicated_in DOID:3652 Leigh disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7550341 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15888 RTEL1 is_implicated_in DOID:0050671 female breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30303537 20220609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9174 POLB is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17230526 20100406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A is_implicated_in DOID:0110477 autosomal recessive nonsyndromic deafness 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11444 STXBP1 is_implicated_in DOID:0050562 West syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23409955 20170511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7652 NBN is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17899368 20080808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7652 NBN is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17932350 20080808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8961976 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9826 RAD54L is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:1580 diffuse scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23755762 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32034489 20230922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23708912 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12417 TUBG1 is_implicated_in DOID:0090138 complex cortical dysplasia with other brain malformations 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16380 TRIM32 is_implicated_in DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17994 TRPM7 is_implicated_in DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16051700 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17994 TRPM7 is_implicated_in DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11119 SMO is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25944162 20210812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23034014 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25356 SPRTN is_implicated_in DOID:0111264 Ruijs-Aalfs syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7708 NDUFS2 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11220739 20081215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25326 QRICH2 is_implicated_in DOID:0111914 spermatogenic failure 35 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4464 PRLHR is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14691196 20070823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15504986 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18687223 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14270 PCDH19 is_implicated_in DOID:0060848 developmental and epileptic encephalopathy 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11992262 20181101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14642438 20181101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19394408 20181101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15157994 20181101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12402313 20090225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14432 TMEM237 is_implicated_in DOID:0050777 Joubert syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22152675 20161111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19910179 20100930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7527 MUTYH is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8887999 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_not_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18341666 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_not_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20039785 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9117 PMP2 is_implicated_in DOID:0111560 Charcot-Marie-Tooth disease type 1G ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25751 TRAPPC11 is_implicated_in DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7660 NCF1 is_implicated_in DOID:0070192 autosomal recessive chronic granulomatous disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7711 NDUFS4 is_implicated_in DOID:3652 Leigh disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19107570 20120702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7711 NDUFS4 is_implicated_in DOID:3652 Leigh disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12616398 20120702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11904 TNFRSF10A is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16217763 20160222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14674 PCDH15 is_implicated_in DOID:0110481 autosomal recessive nonsyndromic deafness 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10910 SLC12A1 is_implicated_in DOID:0110142 Bartter disease type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10604 SCO2 is_implicated_in DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19074 THOC5 is_implicated_in DOID:3459 breast carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16959974 20100322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10023 RIT1 is_implicated_in DOID:3490 Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25049390 20221028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10023 RIT1 is_implicated_in DOID:3490 Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26757980 20221028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10023 RIT1 is_implicated_in DOID:3490 Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26714497 20221028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10589 SCN2B is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:0080548 Noonan syndrome with multiple lentigines 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12058348 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:0080548 Noonan syndrome with multiple lentigines 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:0080548 Noonan syndrome with multiple lentigines 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15121796 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:0080548 Noonan syndrome with multiple lentigines 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15520399 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7704 NDUFB9 is_implicated_in DOID:0112079 nuclear type mitochondrial complex I deficiency 24 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11647 TCIRG1 is_implicated_in DOID:0110942 autosomal recessive osteopetrosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11647 TCIRG1 is_implicated_in DOID:0110942 autosomal recessive osteopetrosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10888887 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9864 RARA is_implicated_in DOID:0060318 acute promyelocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18712587 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18423055 20090810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772397 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9118 PMP22 is_implicated_in DOID:0110148 Charcot-Marie-Tooth disease type 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16284093 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8564837 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19761682 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18286 RAX2 is_implicated_in DOID:0110018 age related macular degeneration 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32189578 20231010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28976288 20231010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28692418 20231010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17157823 20231010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 is_implicated_in DOID:0110981 Joubert syndrome 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19800048 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 is_implicated_in DOID:0110981 Joubert syndrome 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16783569 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 is_implicated_in DOID:0110981 Joubert syndrome 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25403 SASS6 is_implicated_in DOID:0070279 primary autosomal recessive microcephaly 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16266379 20101015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15356557 20101015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20685742 20101015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22947 NLRP7 is_implicated_in DOID:3590 gestational trophoblastic neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11607787 20130611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17075 TAB2 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:36229919 20221111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18549840 20111123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15864121 20111123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12441 TYMS is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17659576 20190716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17134762 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16165107 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1321 TIMMDC1 is_implicated_in DOID:0112071 nuclear type mitochondrial complex I deficiency 31 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5724 RBPJ is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10600520 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11284 SRD5A1 is_implicated_in DOID:11132 prostatic hypertrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15136785 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23212 MYH14 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15015131 20070313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8959 PIGB is_implicated_in DOID:0112216 developmental and epileptic encephalopathy 80 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191002 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:8466 retinal degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18050133 20140507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:8466 retinal degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9052636 20140507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:8466 retinal degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7862413 20140507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20298391 20110208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23738012 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19955392 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31935503 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23908149 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24761905 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14293 TEKT3 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17980001 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21843574 20120420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8786 PDE6B is_implicated_in DOID:0110863 congenital stationary night blindness autosomal dominant 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_not_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18061666 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:0080016 spina bifida ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15022402 20161122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29478 ROGDI is_implicated_in DOID:0111668 Kohlschutter-Tonz syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:2893 cervix carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17366619 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9538 PSMB10 is_implicated_in DOID:0060919 proteosome-associated autoinflammatory syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21654846 20120402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:691 PHOX2A is_implicated_in DOID:0081016 congenital fibrosis of the extraocular muscles 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_implicated_in DOID:0110307 hypertrophic cardiomyopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9343502 20090225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11559 TALDO1 is_implicated_in DOID:2978 carbohydrate metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11283793 20070129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25539 RFWD3 is_implicated_in DOID:13636 Fanconi anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17284 POT1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19285750 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17284 POT1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32514122 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17284 POT1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27459707 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:1307 dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15016430 20150723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16075 RAB33B is_implicated_in DOID:0081271 Smith-McCort dysplasia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20602614 20110504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16924569 20110504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11547 TAF15 is_implicated_in DOID:4549 extraskeletal myxoid chondrosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10682 SDHC is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9119 PMPCB is_implicated_in DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25980 TRMT1 is_implicated_in DOID:0081229 autosomal recessive intellectual developmental disorder 68 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19353 SIN3A is_implicated_in DOID:0060395 chromosome 15q24 deletion syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21082 SEC63 is_implicated_in DOID:0050770 polycystic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21082 SEC63 is_implicated_in DOID:0050770 polycystic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15133510 20190528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:0060863 patterned macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8485574 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:0060863 patterned macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16340530 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:0060863 patterned macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17031298 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:0060863 patterned macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15370544 20140509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11847 TLR1 is_implicated_in DOID:1024 leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17548585 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11847 TLR1 is_implicated_in DOID:1024 leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23538572 20140217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22956172 20140217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:14018 alcoholic liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25987440 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:3082 interstitial lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12765340 20101019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15888 RTEL1 is_implicated_in DOID:0070022 autosomal recessive dyskeratosis congenita 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9896 RBM10 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33219256 20220222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:12134 factor VIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22411997 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12441 TYMS is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18774170 20160506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16197 TP53RK is_implicated_in DOID:0080246 Galloway-Mowat syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8064 NUP214 is_implicated_in DOID:936 brain disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9826 RAD54L is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180711 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10397 RPS17 is_implicated_in DOID:0111890 Diamond-Blackfan anemia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:0080745 polymyositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24632671 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9577 PSPH is_implicated_in DOID:0050724 PSPH deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:22938 NLRP12 is_implicated_in DOID:0090063 familial cold autoinflammatory syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:0080199 colorectal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17546593 20190530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7605 MYO6 is_implicated_in DOID:0110495 autosomal recessive nonsyndromic deafness 37 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11460 SUOX is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12112661 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10982 SLC25A12 is_implicated_in DOID:0080349 developmental and epileptic encephalopathy 39 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9665 PTPRB is_implicated_in DOID:1115 sarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31089155 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12399 MYOT is_implicated_in DOID:0080094 myofibrillar myopathy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15924 SALL4 is_implicated_in DOID:0111381 IVIC syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7323 SEPTIN9 is_implicated_in DOID:3689 brachial plexus neuritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7323 SEPTIN9 is_implicated_in DOID:3689 brachial plexus neuritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16186812 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21655952 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28027 WDPCP is_implicated_in DOID:0110137 Bardet-Biedl syndrome 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25604 TRAPPC14 is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26890368 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9831 RAG1 is_implicated_in DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7590 MYLK is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19706030 20230728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:0080176 meningococcal meningitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23691182 20140115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26745093 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27246533 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20837861 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11947 TNNI3 is_implicated_in DOID:0110459 dilated cardiomyopathy 1FF ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23499241 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN is_implicated_in DOID:0111188 myofibrillar myopathy 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190703 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18398 SMARCAD1 is_implicated_in DOID:0111357 adermatoglyphia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:1996 rectum adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22121102 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15864 RBCK1 is_implicated_in DOID:2747 glycogen storage disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 is_implicated_in DOID:0050523 adult T-cell leukemia/lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16707600 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11453 SULT1A1 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14688021 20180202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11785 THBS1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34143713 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19796535 20140430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10933 SLC17A5 is_implicated_in DOID:3659 sialuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10581036 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10933 SLC17A5 is_implicated_in DOID:3659 sialuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32621 SNORA31 is_implicated_in DOID:936 brain disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221116 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8592 PAK3 is_implicated_in DOID:0112051 non-syndromic X-linked intellectual disability 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:0111050 Quebec platelet disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7849 NME1 is_implicated_in DOID:2152 ovary epithelial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7622307 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_implicated_in DOID:13544 low tension glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15226658 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_implicated_in DOID:13544 low tension glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16148883 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_implicated_in DOID:13544 low tension glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15557444 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:0111162 epidermal nevus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22382497 20220307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18449888 20220307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20772 TUBB3 is_implicated_in DOID:0081017 congenital fibrosis of the extraocular muscles 3A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11100 SMARCA4 is_implicated_in DOID:0070046 Coffin-Siris syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9462 PRPS1 is_implicated_in DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_implicated_in DOID:0070480 schwannomatosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9706 NECTIN1 is_implicated_in DOID:2121 ectodermal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10932188 20070215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19558213 20110504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16390 NOD1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15718249 20110502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16390 NOD1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16918516 20110502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29557 NEXN is_implicated_in DOID:0110326 hypertrophic cardiomyopathy 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9414 PRKG1 is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10887 SIX1 is_implicated_in DOID:14702 branchiootorenal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17637804 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10887 SIX1 is_implicated_in DOID:14702 branchiootorenal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15141091 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10887 SIX1 is_implicated_in DOID:14702 branchiootorenal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18330911 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10887 SIX1 is_implicated_in DOID:14702 branchiootorenal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21280147 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10879 STIL is_implicated_in DOID:0070278 primary autosomal recessive microcephaly 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28625 NDUFAF6 is_implicated_in DOID:0112078 nuclear type mitochondrial complex I deficiency 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_implicated_in DOID:0060326 myelomeningocele ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21135204 20170424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_implicated_in DOID:0060326 myelomeningocele ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23427181 20170424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_implicated_in DOID:0111269 autosomal dominant hyaline body myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_implicated_in DOID:0111269 autosomal dominant hyaline body myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14520662 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20174631 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7714 NDUFS7 is_implicated_in DOID:0112093 nuclear type mitochondrial complex I deficiency 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24024195 20200716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21169917 20200716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10024 RLBP1 is_implicated_in DOID:0050683 Bothnia retinal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7960 NR0B1 is_implicated_in DOID:0080156 X-linked adrenal hypoplasia congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_not_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26336112 20160216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21088 SCD5 is_implicated_in DOID:0112160 autosomal dominant nonsyndromic deafness 79 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0112157 X-linked atrophic macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18327255 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11055 SLC6A8 is_implicated_in DOID:0050800 cerebral creatine deficiency syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11237 SPG7 is_implicated_in DOID:0110816 hereditary spastic paraplegia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11363 STAT2 is_implicated_in DOID:1227 neutropenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19200137 20210224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30782 NAA15 is_implicated_in DOID:0080233 autosomal dominant intellectual developmental disorder 50 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11344 ST14 is_implicated_in DOID:0060720 autosomal recessive congenital ichthyosis 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16473 NME8 is_implicated_in DOID:0110606 primary ciliary dyskinesia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11924 TNFRSF9 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9701 PURA is_implicated_in DOID:0070061 autosomal dominant intellectual developmental disorder 31 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20438790 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23001997 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_implicated_in DOID:3317 hepatic angiomyolipoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22251200 20200219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_implicated_in DOID:3317 hepatic angiomyolipoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29512829 20200219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_implicated_in DOID:3082 interstitial lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16423270 20101006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_implicated_in DOID:3082 interstitial lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19443464 20101006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_implicated_in DOID:3082 interstitial lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15756222 20101006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7905 NPHP1 is_implicated_in DOID:0110999 Joubert syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7905 NPHP1 is_implicated_in DOID:0110999 Joubert syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17409309 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11737 TEX14 is_implicated_in DOID:0070181 spermatogenic failure 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11120 SMPD1 is_implicated_in DOID:0070112 Niemann-Pick disease type B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8889 PGAM2 is_implicated_in DOID:0080108 myoglobinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8447317 20070117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7467 MTTP is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16328015 20070611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18187 SIAE is_implicated_in DOID:417 autoimmune disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10882 SIM1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10587584 20070503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12632 USP9X is_implicated_in DOID:0112026 non-syndromic X-linked intellectual disability 99 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20778 TUBB is_implicated_in DOID:0112242 congenital symmetric circumferential skin creases 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9462 PRPS1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25491489 20170620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9707 NECTIN2 is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17376543 20120711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10819637 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:0060009 MHC class I deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11075 NHERF1 is_implicated_in DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:14250 Down syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16489479 20161122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10850 SHMT1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17896178 20080912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10683 SDHD is_implicated_in DOID:0060537 mitochondrial complex II deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210203 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13478 UBE3B is_implicated_in DOID:0111456 Kaufman oculocerebrofacial syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR is_implicated_in DOID:988 mitral valve prolapse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10199795 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:13406 pulmonary sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17785866 20101029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15975 SASH3 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19837268 20130121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20837493 20110408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30143709 20200214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22825813 20200214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8574 PAFAH1B1 is_implicated_in DOID:0050453 lissencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11115846 20170216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9673 PTPRJ is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230906 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9180 POLG2 is_implicated_in DOID:0070447 mitochondrial DNA depletion syndrome 16B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210825 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7652 NBN is_implicated_in DOID:0014667 disease of metabolism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9590180 20070305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10596 SCN8A is_implicated_in DOID:0080445 developmental and epileptic encephalopathy 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9547 PSMC1 is_implicated_in DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221221 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB is_implicated_in DOID:0060230 basal ganglia calcification ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18467141 20081104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24649009 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19914098 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7865 NODAL is_implicated_in DOID:0050545 visceral heterotaxy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21618417 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15159311 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26605150 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16280 TRIM36 is_implicated_in DOID:0060668 anencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210728 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10451707 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:12010 anterior ischemic optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16633797 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:9743 diabetic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14693986 20090819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18475302 20100517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10410 RPS23 is_implicated_in DOID:0070415 brachycephaly, trichomegaly, and developmental delay ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10250 ROBO2 is_implicated_in DOID:9620 vesicoureteral reflux ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24362456 20160428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:10024 migraine with aura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21635773 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11610 TCAP is_implicated_in DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19889475 20120601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9832 RAG2 is_implicated_in DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24315498 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12387655 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18047640 20110222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25529925 20230928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28422 TSEN2 is_implicated_in DOID:0060268 pontocerebellar hypoplasia type 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19771452 20110408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:1389 polyneuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12815947 20180131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12340 TRPS1 is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10615131 20070212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10599336 20140425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7516 MUC5B is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19191526 20130919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17108812 20070726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9364 PRG4 is_implicated_in DOID:1787 pericarditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16429407 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_not_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23285148 20130730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9153 PNKD is_implicated_in DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9905 RBM8A is_implicated_in DOID:14699 thrombocytopenia-absent radius syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_not_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22668018 20160504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19797132 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11589345 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27561 TSEN54 is_implicated_in DOID:0060273 pontocerebellar hypoplasia type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180221 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19395279 20090914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:3770 pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:13680361 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10050 RNASEL is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16054567 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1160 TWNK is_implicated_in DOID:0080126 mitochondrial DNA depletion syndrome 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11354 STAG1 is_implicated_in DOID:0080238 autosomal dominant intellectual developmental disorder 47 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12477941 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29650000 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10937 SLC19A1 is_implicated_in DOID:0060770 dextro-looped transposition of the great arteries ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22868813 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_implicated_in DOID:7474 malignant pleural mesothelioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26493618 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_implicated_in DOID:7474 malignant pleural mesothelioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26928227 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9752 QDPR is_implicated_in DOID:9281 phenylketonuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2116088 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7590 MYLK is_implicated_in DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210602 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4927 SLC39A7 is_implicated_in DOID:0081141 agammaglobulinemia 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15459 P2RX2 is_implicated_in DOID:0110567 autosomal dominant nonsyndromic deafness 41 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7863 NNT is_implicated_in DOID:0080620 familial glucocorticoid deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:14320 generalized anxiety disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22907732 20200730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12441 TYMS is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18635682 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12520 UFD1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11496370 20150213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 is_not_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:37177778 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:37177778 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31004399 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16400 NLRP3 is_implicated_in DOID:1555 urticaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11687797 20070328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10961 SLCO1B3 is_implicated_in DOID:2741 bilirubin metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180131 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11582 TBCE is_implicated_in DOID:11199 hypoparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12389028 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21686 RNASET2 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29193083 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10929044 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23166 PNPT1 is_implicated_in DOID:0111467 combined oxidative phosphorylation deficiency 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18391 SCGB3A2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18391 SCGB3A2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18089940 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18391 SCGB3A2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11813133 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:3314 angiomyolipoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17932460 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26050 TMEM70 is_implicated_in DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10383 RPS10 is_implicated_in DOID:0111884 Diamond-Blackfan anemia 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17994 TRPM7 is_not_implicated_in DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19405049 20120106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17123 SLC9A7 is_implicated_in DOID:0111844 X-linked intellectual developmental disorder 108 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9726 PYGM is_implicated_in DOID:2746 glycogen storage disease V ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9726 PYGM is_implicated_in DOID:2746 glycogen storage disease V ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9633816 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29502 PJVK is_implicated_in DOID:0110511 autosomal recessive nonsyndromic deafness 59 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7690 NDUFA6 is_implicated_in DOID:0112097 nuclear type mitochondrial complex I deficiency 33 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29190 TNRC6B is_implicated_in DOID:13223 uterine fibroid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23892540 20190329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11733 TEX11 is_implicated_in DOID:0070185 X-linked spermatogenic failure 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 is_implicated_in DOID:0060583 Noonan syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7974 NR2E3 is_implicated_in DOID:0110399 retinitis pigmentosa 37 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:11664 nephrosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21613384 20120830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_implicated_in DOID:8991 cervix uteri carcinoma in situ ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15793301 20080407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11526 TACR1 is_implicated_in DOID:0060037 developmental disorder of mental health ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29168 RPGRIP1L is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17558409 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15901845 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10600 SCNN1B is_implicated_in DOID:0050477 Liddle syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0060330 Rapp-Hodgkin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9122 PMS2 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18723338 20091214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 is_implicated_in DOID:898 autosomal dominant polycystic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22863349 20121129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 is_implicated_in DOID:898 autosomal dominant polycystic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21115670 20121129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 is_implicated_in DOID:0080333 aortic valve disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16025100 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 is_implicated_in DOID:0080333 aortic valve disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10788 SRSF6 is_implicated_in DOID:0070168 spermatogenic failure 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24661730 20160302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11273 SPTAN1 is_implicated_in DOID:0080438 developmental and epileptic encephalopathy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19334527 20140425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21186995 20120917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16828193 20120917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20456312 20110110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7549 MYBPC1 is_implicated_in DOID:0111598 distal arthrogryposis type 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9596 PTGER4 is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21743469 20120524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16397907 20090724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:6543 acne ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18615253 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11065 SLC7A7 is_implicated_in DOID:0060439 lysinuric protein intolerance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10080182 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11065 SLC7A7 is_implicated_in DOID:0060439 lysinuric protein intolerance ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10964 SLC22A18 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:0080815 childhood-onset asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23487427 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8064 NUP214 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30308 RGMA is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20072140 20150331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12012 TPM3 is_implicated_in DOID:0080102 congenital myopathy 4A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200619 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17492467 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10723 SEMA3A is_implicated_in DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7778 NFATC4 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12939651 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7534 MXI1 is_implicated_in DOID:3512 neurofibrosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10470286 20070302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17861 TRAF3IP1 is_implicated_in DOID:0050576 Senior-Loken syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19958 PRORP is_implicated_in DOID:0070427 combined oxidative phosphorylation deficiency 54 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 is_implicated_in DOID:0080991 congenital myopathy 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12711 VPS26A is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28821857 20231024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_implicated_in DOID:2468 psychotic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16082692 20151215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20303 SLC30A8 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16400 NLRP3 is_implicated_in DOID:0080270 autosomal dominant nonsyndromic deafness 34 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19810822 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9721 PYCR1 is_implicated_in DOID:0070138 autosomal recessive cutis laxa type IIIB ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29010 SETD1A is_implicated_in DOID:0070471 early-onset epilepsy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200715 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20751 WDFY3 is_implicated_in DOID:0070295 primary autosomal dominant microcephaly 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11280 SQSTM1 is_implicated_in DOID:0081366 Paget's disease of bone 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9403 PRKCH is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20672 PHF8 is_implicated_in DOID:0060812 syndromic X-linked intellectual disability Siderius type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26200 STN1 is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25231748 20220610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17290104 20151130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20486200 20151130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18843018 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18515090 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9539248 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17348 PRPF3 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11773002 20070207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:2531 hematologic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28387921 20191028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28062211 20200122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11772 TGFBR1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24880985 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25919455 20201001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11584 TBK1 is_implicated_in DOID:936 brain disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17722 SPRED2 is_implicated_in DOID:3490 Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8811 PDK3 is_implicated_in DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10588 SCN2A is_implicated_in DOID:963 episodic ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200722 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26392 PTCHD1 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:2602 chondroma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20577567 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18044 SLC38A3 is_implicated_in DOID:0070388 developmental and epileptic encephalopathy 102 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21317683 20111221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10090925 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19272686 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19500629 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:12297 Vogt-Koyanagi-Harada disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20438790 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_implicated_in DOID:417 autoimmune disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16026592 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15754 MYL9 is_implicated_in DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210707 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_not_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15211628 20120402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9682 PTPRT is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30200630 20211104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12269 TREX1 is_implicated_in DOID:0060386 Chilblain lupus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1908 VPS13A is_implicated_in DOID:12859 choreatic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11381253 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11068 SLC8A1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15785003 20071010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11068 SLC8A1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15824464 20071010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11356 STAG3 is_implicated_in DOID:0080865 primary ovarian insufficiency 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28984 WASHC5 is_implicated_in DOID:0110823 hereditary spastic paraplegia 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8807 PDHA2 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18286 RAX2 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221102 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:13099 Moyamoya disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32411507 20231115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11474 SURF1 is_implicated_in DOID:3652 Leigh disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9843204 20070119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12013 TPM4 is_implicated_in DOID:2218 blood platelet disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230906 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16472 SLC45A2 is_implicated_in DOID:0070098 oculocutaneous albinism type IV ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14961451 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16472 SLC45A2 is_implicated_in DOID:0070098 oculocutaneous albinism type IV ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11496247 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 is_implicated_in DOID:1882 atrial heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15735645 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9386 PRKAG2 is_implicated_in DOID:0110312 hypertrophic cardiomyopathy 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11366 STAT5A is_implicated_in DOID:234 colon adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22121102 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2183 VPS13B is_implicated_in DOID:0111590 Cohen syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12712 VPS33B is_implicated_in DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190918 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15932632 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24259 TPRKB is_implicated_in DOID:0080247 Galloway-Mowat syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:1192 peripheral nervous system neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19246520 20170405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9986 RFX5 is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7744245 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9986 RFX5 is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9401005 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_not_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9014588 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:1727 retinal vein occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23441121 20140217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21965272 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12559 UMOD is_implicated_in DOID:0060062 familial juvenile hyperuricemic nephropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12559 UMOD is_implicated_in DOID:0060062 familial juvenile hyperuricemic nephropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12471200 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8618 PAX4 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15509590 20090727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8618 PAX4 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15834548 20090727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15971 TSG101 is_implicated_in DOID:3459 breast carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9019400 20070308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15632 TLR8 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_not_implicated_in DOID:8501 fundus dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9690896 20140508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9031 PLA2G2A is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18096355 20120427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18601 RTN4R is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1112 NCAPH is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10760 SET is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11408 STK4 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20278 NUBPL is_implicated_in DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18843018 20100604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17985 ROBO4 is_implicated_in DOID:0080977 aortic valve disease 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190731 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10260 RORC is_implicated_in DOID:0111940 immunodeficiency 42 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10671 SDCCAG8 is_implicated_in DOID:0050576 Senior-Loken syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1584 acute chest syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25263931 20160913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1584 acute chest syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14687036 20160913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11771 TGFBI is_implicated_in DOID:0060453 Reis-Bucklers corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23042660 20231115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19104 NPHP4 is_implicated_in DOID:0110999 Joubert syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15776426 20160930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6772 SMAD6 is_implicated_in DOID:0060912 craniosynostosis 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:9008 psoriatic arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22328738 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22396730 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19141 TTBK2 is_implicated_in DOID:0050961 spinocerebellar ataxia type 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A is_implicated_in DOID:0110433 dilated cardiomyopathy 1E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9449 PRNP is_implicated_in DOID:11949 Creutzfeldt-Jakob disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1684755 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9449 PRNP is_implicated_in DOID:11949 Creutzfeldt-Jakob disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21185 PNLDC1 is_implicated_in DOID:0112338 spermatogenic failure 57 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210922 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10780 SRSF1 is_implicated_in DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19505916 20100909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20652 TXNDC15 is_implicated_in DOID:0050778 Meckel syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220518 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:811 lipodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10622252 20070420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16266 SLC19A3 is_implicated_in DOID:0050659 biotin-responsive basal ganglia disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19440 SBDS is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0080074 neural tube defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8826441 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25355 SLC30A10 is_implicated_in DOID:0080536 hypermanganesemia with dystonia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:11512 Budd-Chiari syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12221667 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:11512 Budd-Chiari syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26238013 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11769 TGFB3 is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15924806 20070622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9452 steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15834927 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10788 SRSF6 is_implicated_in DOID:13207 proliferative diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21309690 20160303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21350 PDHX is_implicated_in DOID:3649 pyruvate decarboxylase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30760 TMEM165 is_implicated_in DOID:0070263 congenital disorder of glycosylation type IIk ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9129974 20090810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9458110 20090810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12500216 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11448 SUCLA2 is_implicated_in DOID:0080124 mitochondrial DNA depletion syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14539 RNF213 is_implicated_in DOID:13099 Moyamoya disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28625 NDUFAF6 is_implicated_in DOID:0080761 Fanconi renotubular syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30800 TMIE is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12145746 20070205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16466 SUFU is_implicated_in DOID:0080278 Joubert syndrome 32 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8859 PEX6 is_implicated_in DOID:0080479 peroxisome biogenesis disorder 4A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20921119 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16389593 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19440 SBDS is_implicated_in DOID:0060479 Shwachman-Diamond syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12496757 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19440 SBDS is_implicated_in DOID:0060479 Shwachman-Diamond syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9719 PEX5 is_implicated_in DOID:0080477 peroxisome biogenesis disorder 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18222012 20200819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25311255 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13806 NEUROG3 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17146417 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18276 SEC61A1 is_implicated_in DOID:0060062 familial juvenile hyperuricemic nephropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9891 RBBP8 is_implicated_in DOID:0070013 Seckel syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10969799 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19182 SASH1 is_implicated_in DOID:0060304 dyschromatosis universalis hereditaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190403 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26666818 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19743 POMT2 is_implicated_in DOID:0050453 lissencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17559086 20160902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13436 RPGRIP1 is_implicated_in DOID:0111016 cone-rod dystrophy 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11117 SMN1 is_implicated_in DOID:0050530 intermediate spinal muscular atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180802 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23503 SLITRK6 is_implicated_in DOID:0111628 high myopia-sensorineural deafness syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13487 VPS35 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25701813 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13487 VPS35 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25639775 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13487 VPS35 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26223426 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12010 TPM1 is_implicated_in DOID:0080326 familial hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15000344 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:10247 pleurisy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23052617 20170728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12665 VCL is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16236538 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:9834 hyperopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16151340 20170403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7551 MYBPC3 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15519027 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7551 MYBPC3 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15737656 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27845 SOHLH1 is_implicated_in DOID:0080497 ovarian dysgenesis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16268 PNPLA6 is_implicated_in DOID:1930 Laurence-Moon syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9118 PMP22 is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9040744 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9118 PMP22 is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22801995 20221031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13436 RPGRIP1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12920076 20070207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12745272 20160505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24611901 20160505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12009 TPI1 is_implicated_in DOID:2978 carbohydrate metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9338582 20070208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16737574 20100315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21820934 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11934 TNFSF4 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11934 TNFSF4 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15750594 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25126 NAF1 is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25231748 20220610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11006 SLC2A2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11006 SLC2A2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17636114 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11006 SLC2A2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8027028 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7605 MYO6 is_implicated_in DOID:0110552 autosomal dominant nonsyndromic deafness 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN is_implicated_in DOID:0110315 hypertrophic cardiomyopathy 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2280 hidradenitis suppurativa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23106544 20140106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23845 SLX4 is_implicated_in DOID:0111092 Fanconi anemia complementation group P ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10898 SKIC2 is_implicated_in DOID:0111416 trichohepatoenteric syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10545531 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29168 RPGRIP1L is_implicated_in DOID:0070119 Meckel syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7583 MYL2 is_implicated_in DOID:0080326 familial hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9535554 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7583 MYL2 is_implicated_in DOID:0080326 familial hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11748309 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8621 PAX7 is_implicated_in DOID:0081351 congenital myopathy 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191016 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7523 TRIM37 is_implicated_in DOID:0050436 mulibrey nanism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12636 UTS2 is_implicated_in DOID:11714 gestational diabetes ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17327028 20090506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11992 TOP3A is_implicated_in DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190821 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11738 TEX15 is_implicated_in DOID:0111920 spermatogenic failure 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10939 SLC1A1 is_implicated_in DOID:0060650 dicarboxylic aminoaciduria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8622 PAX8 is_implicated_in DOID:0050328 congenital hypothyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9590296 20070306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10659 SDC2 is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18716610 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25415 PPM1K is_implicated_in DOID:9269 maple syrup urine disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20297661 20110504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN is_implicated_in DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26113 TCTN1 is_implicated_in DOID:0110982 Joubert syndrome 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11967037 20120927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10257 ROR2 is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22490406 20160923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14584 VPS16 is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21820934 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11071 SLC9A1 is_implicated_in DOID:0080065 autosomal recessive spinocerebellar ataxia 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 is_implicated_in DOID:0111103 maturity-onset diabetes of the young type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29749584 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7467 MTTP is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15094225 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9865 RARB is_implicated_in DOID:0111800 syndromic microphthalmia 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20692 TPH2 is_not_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16958027 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29929 NUP37 is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8905 PGM1 is_implicated_in DOID:0080570 congenital disorder of glycosylation It ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23127549 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16924269 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7856 NQO2 is_implicated_in DOID:12987 agranulocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14617031 20160503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11588 TBP is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16054804 20111214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30260 PNPO is_implicated_in DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17168 RAB3GAP2 is_implicated_in DOID:0110717 Warburg micro syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24715 TBC1D8B is_implicated_in DOID:0070357 nephrotic syndrome type 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190731 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9673 PTPRJ is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19672627 20220510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772397 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9850059 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:2987 familial mediterranean fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28543752 20200813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1546 SERPINH1 is_implicated_in DOID:0111144 preterm premature rupture of the membranes ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN is_implicated_in DOID:0060368 Parkinson's disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_not_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11352872 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9255 PPIB is_implicated_in DOID:0110349 osteogenesis imperfecta type 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12915457 20191024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27644568 20191024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21653 TOPORS is_implicated_in DOID:0110391 retinitis pigmentosa 31 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20597 UFM1 is_implicated_in DOID:0080296 hypomyelinating leukodystrophy 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 is_implicated_in DOID:1062 Fanconi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20335586 20130426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9848 RANBP2 is_implicated_in DOID:936 brain disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9848 RANBP2 is_implicated_in DOID:936 brain disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19118815 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7432 MTHFD1 is_implicated_in DOID:0080633 developmental cardiac valvular defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18767138 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27531263 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26629180 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18667 PMPCA is_implicated_in DOID:0080061 autosomal recessive spinocerebellar ataxia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19186046 20101026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10934 SLC18A1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18451639 20110425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7820 NHS is_implicated_in DOID:0060599 Nance-Horan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7820 NHS is_implicated_in DOID:0060599 Nance-Horan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16736028 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10001 RGS5 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11326 SSR4 is_implicated_in DOID:0080574 congenital disorder of glycosylation Iy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30859 SNRNP200 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19710410 20151207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30859 SNRNP200 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19878916 20151207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7939 NPPA is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12514664 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9006 PITX3 is_implicated_in DOID:0110249 cataract 11 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 is_implicated_in DOID:1679 cystitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19543401 20130621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1181 MYRF is_implicated_in DOID:0080634 nanophthalmos ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31048900 20230322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18496036 20101027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28536139 20180214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:2030 anxiety disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20185 TMEM260 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27602096 20230119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19261 MTO1 is_implicated_in DOID:0111480 combined oxidative phosphorylation deficiency 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25088 SGO1 is_implicated_in DOID:0060339 chronic atrial and intestinal dysrhythmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:10787 premature menopause ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15351195 20140728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11141 SNCG is_implicated_in DOID:12217 Lewy body dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20697047 20120308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9343 PRCC is_implicated_in DOID:4465 papillary renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180919 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:1319 brain cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26014354 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8746 PCSK4 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_not_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19625716 20160219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11566 TAPBP is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12149238 20070129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 is_not_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28656735 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17859 NUP188 is_implicated_in DOID:11162 respiratory failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32275884 20230329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:9146 visceral leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12438370 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:1074 kidney failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20433440 20120904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20456 TRAF7 is_implicated_in DOID:1788 peritoneal mesothelioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30171198 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16513 TMC1 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11850618 20070205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_not_implicated_in DOID:1577 limited scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23755762 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9612 PTK2B is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16457699 20080424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11908569 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15705632 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7608 MYO9A is_implicated_in DOID:3635 congenital myasthenic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_not_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12872203 20200730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10935 SLC18A2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16339215 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:1584 acute chest syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22925497 20160510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:1584 acute chest syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25130874 20160510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:3491 Turner syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21823528 20170918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28497 TMEM151A is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25344691 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21070756 20111006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1268 TSPEAR is_implicated_in DOID:0050591 tooth agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230104 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13711 POF1B is_implicated_in DOID:0080859 primary ovarian insufficiency 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12565 UNC119 is_implicated_in DOID:0050572 cone-rod dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18828 NDUFAF1 is_implicated_in DOID:0112089 nuclear type mitochondrial complex I deficiency 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11474 SURF1 is_implicated_in DOID:0110187 Charcot-Marie-Tooth disease type 4K ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11474 SURF1 is_implicated_in DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20497632 20130619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8621 PAX7 is_implicated_in DOID:4051 alveolar rhabdomyosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26274 NARS2 is_implicated_in DOID:0111641 autosomal recessive nonsyndromic deafness 94 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190626 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 is_implicated_in DOID:9255 frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16380 TRIM32 is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11822024 20070502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19743 POMT2 is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17634419 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23656 TIMM50 is_implicated_in DOID:0070002 3-methylglutaconic aciduria type 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29203 TBC1D24 is_implicated_in DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190821 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18253 PARL is_implicated_in DOID:2018 hyperinsulinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15729572 20170508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11272 SPTA1 is_implicated_in DOID:12971 hereditary spherocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15384986 20160415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_implicated_in DOID:986 alopecia areata ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12589427 20120330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28086 NDUFAF2 is_implicated_in DOID:0112075 nuclear type mitochondrial complex I deficiency 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19672627 20220510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19892796 20220510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8082 NYX is_implicated_in DOID:8499 night blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11062471 20070403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11047 SLC6A14 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15331564 20070531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9826 RAD54L is_implicated_in DOID:14566 disease of cellular proliferation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10362365 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11654 TCOF1 is_implicated_in DOID:0080789 Treacher Collins syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200708 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9076 PLIN1 is_implicated_in DOID:0070205 familial partial lipodystrophy type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9509 PSEN2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10976645 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9509 PSEN2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9246481 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19105801 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10690530 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_not_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22443215 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_not_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28656735 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2073 TPP1 is_implicated_in DOID:0080059 autosomal recessive spinocerebellar ataxia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20371 NDUFA11 is_implicated_in DOID:0112094 nuclear type mitochondrial complex I deficiency 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10416 RPS27 is_implicated_in DOID:0111880 Diamond-Blackfan anemia 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30022 PPARGC1B is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15863669 20070921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:841 extrinsic allergic alveolitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18342853 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10599336 20140425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:11713 diabetic angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18575614 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9458098 20170410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10602 SCNN1G is_implicated_in DOID:0050477 Liddle syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7550319 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10602 SCNN1G is_implicated_in DOID:0050477 Liddle syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7576 MYH6 is_implicated_in DOID:0110108 atrial heart septal defect 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15533 SPRY4 is_implicated_in DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29203 TBC1D24 is_implicated_in DOID:0110532 autosomal recessive nonsyndromic deafness 86 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20754 TRPC7 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27617218 20220615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_implicated_in DOID:1273 respiratory syncytial virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19287351 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 is_implicated_in DOID:3529 congenital myopathy 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9122 PMS2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19692168 20091214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8756 PCYT2 is_implicated_in DOID:0112343 hereditary spastic paraplegia 82 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10994 SLC26A2 is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8571951 20070223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12449 TYROBP is_implicated_in DOID:0090112 Nasu-Hakola disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11226 SPG11 is_implicated_in DOID:0110764 hereditary spastic paraplegia 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19710684 20140915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24617981 20140915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15889046 20140915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9918859 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7708 NDUFS2 is_implicated_in DOID:0112066 nuclear type mitochondrial complex I deficiency 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29873 NKAP is_implicated_in DOID:0060309 syndromic X-linked intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200722 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12403 TTN is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27869827 20161128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18122 SOX17 is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31040677 20230717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18122 SOX17 is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18997786 20230717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18122 SOX17 is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22961961 20230717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18122 SOX17 is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20364137 20230717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18122 SOX17 is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29191544 20230717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:3227 tracheal stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20172396 20101025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11302 SRP68 is_implicated_in DOID:0050590 severe congenital neutropenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231011 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4206 OPN1MW is_implicated_in DOID:13909 red-green color blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1181 MYRF is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:36193932 20230323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29529 TBL1XR1 is_implicated_in DOID:0081362 Pierpont syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22868813 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16711 TLR6 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20815312 20101203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13530 RXYLT1 is_implicated_in DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7584 MYL3 is_implicated_in DOID:0110314 hypertrophic cardiomyopathy 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:0050869 villous adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24512911 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5401 SP110 is_implicated_in DOID:0112254 hepatic venoocclusive disease with immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9831 RAG1 is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9630231 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9831 RAG1 is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8810255 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28611 RICTOR is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27863413 20220628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:9849 Meniere's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19780033 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25018 TMEM216 is_implicated_in DOID:0070116 Meckel syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20512146 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25018 TMEM216 is_implicated_in DOID:0070116 Meckel syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8101 OCA2 is_implicated_in DOID:8866 actinic keratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24617981 20140915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_implicated_in DOID:1148 polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22903933 20170331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9302 PPP2R1A is_implicated_in DOID:0070066 autosomal dominant intellectual developmental disorder 36 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26073892 20170913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27155524 20170913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11120 SMPD1 is_implicated_in DOID:14504 Niemann-Pick disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12556236 20070417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10866 ST3GAL3 is_implicated_in DOID:0080414 developmental and epileptic encephalopathy 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10659 SDC2 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18716610 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7527 MUTYH is_implicated_in DOID:0080410 familial adenomatous polyposis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11233 SPAST is_implicated_in DOID:0110792 hereditary spastic paraplegia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16115819 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5318 TNC is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18305139 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30129 POP1 is_implicated_in DOID:0080962 anauxetic dysplasia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:0050685 small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11679176 20110708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_implicated_in DOID:4467 clear cell renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26891804 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_implicated_in DOID:4467 clear cell renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26864202 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20124605 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12648582 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18248301 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15556047 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18253 PARL is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19185381 20170508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_not_implicated_in DOID:2316 brain ischemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16179568 20070419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15454 SHOC2 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20882035 20230111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12014 TPMT is_not_implicated_in DOID:615 leukopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20308917 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16458450 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_not_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14528063 20140424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17156840 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:3261 hyper IgE recurrent infection syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17676033 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:3261 hyper IgE recurrent infection syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 is_implicated_in DOID:12558 chronic progressive external ophthalmoplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15792871 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 is_implicated_in DOID:12558 chronic progressive external ophthalmoplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12565915 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16202847 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23143 SYT14 is_implicated_in DOID:0080063 autosomal recessive spinocerebellar ataxia 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8039 NTSR1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:36947392 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:3347 osteosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19159907 20120913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20286 TRIT1 is_implicated_in DOID:0111464 combined oxidative phosphorylation deficiency 35 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:37234 TMEM231 is_implicated_in DOID:0050778 Meckel syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13387 NEK8 is_implicated_in DOID:0111120 nephronophthisis 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9270614 20170517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20938027 20120430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_implicated_in DOID:2226 myeloproliferative neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19564637 20160219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13394 NPHS2 is_implicated_in DOID:0080379 nephrotic syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8860 PEX7 is_implicated_in DOID:0080377 peroxisomal biogenesis disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:1826 epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18238797 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20372 NDUFB11 is_implicated_in DOID:0112098 nuclear type mitochondrial complex I deficiency 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7853 NME5 is_implicated_in DOID:9562 primary ciliary dyskinesia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220921 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10591 SCN4A is_implicated_in DOID:0111538 paramyotonia congenita of Von Eulenburg ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180425 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO is_implicated_in DOID:11105 fundus albipunctatus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA is_implicated_in DOID:0050773 paraganglioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21727658 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:0080351 CLOVES syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:0080351 CLOVES syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22729222 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24152 RSRC1 is_implicated_in DOID:0081231 autosomal recessive intellectual developmental disorder 70 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190605 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8973 PIK3C2G is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17991425 20180215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16438 SLC4A11 is_implicated_in DOID:0111620 corneal dystrophy-perceptive deafness syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19104 NPHP4 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22550138 20160930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:4029 gastritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20230816 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30225 SLC52A1 is_implicated_in DOID:8454 riboflavin deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10706 SEC24D is_implicated_in DOID:0060438 Cole-Carpenter syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17321 SP7 is_implicated_in DOID:0110348 osteogenesis imperfecta type 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16267612 20110502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16466 SUFU is_implicated_in DOID:0050902 medulloblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12068298 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16466 SUFU is_implicated_in DOID:0050902 medulloblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12586 UQCRC2 is_implicated_in DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1012 OPN1SW is_implicated_in DOID:11661 blue color blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9462 PRPS1 is_implicated_in DOID:13189 gout ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8253776 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10783 SRSF2 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23280334 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23282 MUC20 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16508246 20130927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12723 VSX1 is_implicated_in DOID:10126 keratoconus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21976959 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12723 VSX1 is_implicated_in DOID:10126 keratoconus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15623752 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12723 VSX1 is_implicated_in DOID:10126 keratoconus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12723 VSX1 is_implicated_in DOID:10126 keratoconus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18626569 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8108 OCRL is_implicated_in DOID:0050699 Dent disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20305 SLC34A3 is_implicated_in DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A is_implicated_in DOID:0110646 long QT syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A is_implicated_in DOID:0110646 long QT syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30566038 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14295 SHANK2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22429552 20140106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18533 USP48 is_implicated_in DOID:0050564 autosomal dominant nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230215 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23150 UNC13A is_not_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20385924 20120120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3018 SLC26A3 is_implicated_in DOID:13250 diarrhea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8896562 20070223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_implicated_in DOID:5517 stomach carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18716896 20111206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17928 PSMC3IP is_implicated_in DOID:0080495 ovarian dysgenesis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16192 SLC17A9 is_implicated_in DOID:3805 porokeratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_implicated_in DOID:0110875 holoprosencephaly 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9282 PPP1CB is_implicated_in DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12490667 20070618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_not_implicated_in DOID:2316 brain ischemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15258789 20070501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7784 NFIA is_implicated_in DOID:0060409 NFIA-related disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9954 REL is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211222 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16035 STRC is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11687802 20070118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26223426 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14581 PINK1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25639775 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9122 PMS2 is_implicated_in DOID:0112182 mismatch repair cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9091 PLS3 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181003 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18502 TBL1Y is_implicated_in DOID:0111758 Y-linked deafness 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190515 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9457 PLPBP is_implicated_in DOID:0080769 early-onset vitamin B6-dependent epilepsy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22374238 20120628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7569 MYH11 is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7569 MYH11 is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16444274 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:3969 thyroid gland papillary carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_not_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15198731 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25018 TMEM216 is_implicated_in DOID:0110988 Joubert syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25018 TMEM216 is_implicated_in DOID:0110988 Joubert syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20036350 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26784 MTRFR is_implicated_in DOID:0110807 hereditary spastic paraplegia 55 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18312481 20110405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21034 NDUFAF4 is_implicated_in DOID:0112077 nuclear type mitochondrial complex I deficiency 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9752 QDPR is_implicated_in DOID:0081130 BH4-deficient hyperphenylalaninemia C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10681 SDHB is_implicated_in DOID:9253 gastrointestinal stromal tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21144100 20160908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25699607 20160908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18953956 20160908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26038 TMEM127 is_implicated_in DOID:0050771 pheochromocytoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9045 PLAG1 is_implicated_in DOID:14681 Silver-Russell syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12428 TWIST1 is_implicated_in DOID:14768 Saethre-Chotzen syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180725 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:1214 tympanosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19398177 20140115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12261 TRDN is_implicated_in DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16979413 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13771 SOST is_implicated_in DOID:0060251 sclerosteosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11179006 20070116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14263 RAB23 is_implicated_in DOID:0060234 Carpenter syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:3042 allergic contact dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16533241 20140424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28991 RUBCN is_implicated_in DOID:0080057 autosomal recessive spinocerebellar ataxia 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25354935 20220128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26598072 20220128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27424 RBM20 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19712804 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_implicated_in DOID:3347 osteosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0111589 COACH syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19058225 20160922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0111589 COACH syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19574260 20160922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18587394 20120629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19016 TRIM44 is_implicated_in DOID:12271 aniridia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11904 TNFRSF10A is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16217763 20160222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7871 NONO is_implicated_in DOID:0060817 syndromic X-linked intellectual disability 34 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7872 NOS1 is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17418914 20181109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33460763 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772397 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11377 SULT1E1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17372239 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11377 SULT1E1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15894657 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14583 VPS11 is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211222 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_implicated_in DOID:0070014 autosomal dominant dyskeratosis congenita 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17637 PERP is_implicated_in DOID:0050467 erythrokeratodermia variabilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8806 PDHA1 is_implicated_in DOID:3649 pyruvate decarboxylase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20002461 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8806 PDHA1 is_implicated_in DOID:3649 pyruvate decarboxylase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8806 PDHA1 is_implicated_in DOID:3649 pyruvate decarboxylase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10679936 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:8029 sporadic breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15287024 20170411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11195 SOX2 is_implicated_in DOID:0111801 syndromic microphthalmia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19104 NPHP4 is_implicated_in DOID:12712 nephronophthisis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17855640 20160929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29560751 20191029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12517 UCP1 is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8968850 20070515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10446 RRAD is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10024077 20090731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10446 RRAD is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15161552 20090731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28930868 20191029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8927 PHKB is_implicated_in DOID:0111041 glycogen storage disease IXb ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11741 TFAM is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21799244 20120716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11741 TFAM is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17537576 20120716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17327 WAC is_implicated_in DOID:0081126 DeSanto-Shinawi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8133 OLR1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8133 OLR1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12646194 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20197 SLC35C1 is_implicated_in DOID:0070255 congenital disorder of glycosylation type IIc ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20197 SLC35C1 is_implicated_in DOID:0070255 congenital disorder of glycosylation type IIc ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11326280 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11397 PLK4 is_implicated_in DOID:0080106 microcephaly and chorioretinopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 is_implicated_in DOID:10930 borderline personality disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16495936 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16813666 20110114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:11394 adult respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17994220 20110204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 is_implicated_in DOID:9410 panhypopituitarism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15059615 20070807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9990 RGR is_implicated_in DOID:0110394 retinitis pigmentosa 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9115 PMM2 is_implicated_in DOID:5212 congenital disorder of glycosylation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11058896 20070117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9115 PMM2 is_implicated_in DOID:5212 congenital disorder of glycosylation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10066032 20070117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8960 PIGC is_implicated_in DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10799 SFTPA2 is_implicated_in DOID:12716 newborn respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9475280 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8910 PGR is_implicated_in DOID:12700 hyperprolactinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15807882 20070412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12107845 20220407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16570259 20220407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12660488 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7974340 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7850 NME2 is_implicated_in DOID:3307 teratoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7518576 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17311259 20120912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL is_not_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22119815 20121130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7673 NCOR2 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15334463 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9016 PKHD1 is_implicated_in DOID:0110861 autosomal recessive polycystic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11919560 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9016 PKHD1 is_implicated_in DOID:0110861 autosomal recessive polycystic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12874454 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:2378 relapsing-remitting multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20595247 20170717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11510 SYT2 is_implicated_in DOID:0110659 congenital myasthenic syndrome 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9008 PKD1 is_implicated_in DOID:898 autosomal dominant polycystic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8554072 20121129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9008 PKD1 is_implicated_in DOID:898 autosomal dominant polycystic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21115670 20121129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15514 PICALM is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15514 PICALM is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12461747 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27430630 20200805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17619 NDE1 is_implicated_in DOID:0112235 lissencephaly 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28422712 20231205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17223 UST is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12014 TPMT is_implicated_in DOID:0080172 thiopurine S-methyltransferase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11908 TNFRSF11A is_implicated_in DOID:0081365 Paget's disease of bone 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17362997 20111118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28280736 20181114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11596 TBX19 is_implicated_in DOID:0080150 adrenocorticotropic hormone deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8029 NTN1 is_implicated_in DOID:0111153 congenital mirror movement disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:32669 TRIM71 is_implicated_in DOID:10908 hydrocephalus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200422 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9154 PNKP is_implicated_in DOID:0081383 ataxia-oculomotor apraxia type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19035314 20190716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23996892 20190716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17503006 20190716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17659576 20190716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29190 TNRC6B is_implicated_in DOID:13560 subserous uterine fibroid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23892540 20190329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB is_implicated_in DOID:2226 myeloproliferative neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12181402 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:2739 Gilbert syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:34033 RNU7-1 is_implicated_in DOID:0050629 Aicardi-Goutieres syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210825 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25738804 20231116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26086777 20231116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25838425 20231116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19198609 20231116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7883 NOTCH3 is_implicated_in DOID:0080109 infantile myofibromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8786 PDE6B is_implicated_in DOID:0110375 retinitis pigmentosa 40 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26144 PALB2 is_implicated_in DOID:0111094 Fanconi anemia complementation group N ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14372 SCYL1 is_implicated_in DOID:0111155 autosomal recessive spinocerebellar ataxia 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11377 SULT1E1 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18318428 20080923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3098 TOR1A is_implicated_in DOID:0060730 torsion dystonia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24649902 20200513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20456 TRAF7 is_implicated_in DOID:746 adenomatoid tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29148537 20220221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13771 SOST is_implicated_in DOID:0080807 autosomal dominant craniodiaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_implicated_in DOID:4621 holoprosencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10441331 20170329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_implicated_in DOID:4621 holoprosencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11919111 20170329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_implicated_in DOID:4621 holoprosencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8896572 20170329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9201 POMC is_not_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24035285 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:0112182 mismatch repair cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15334463 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17768 TDP2 is_implicated_in DOID:0111613 autosomal recessive spinocerebellar ataxia 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_implicated_in DOID:6543 acne ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20556591 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:0050633 ocular albinism 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7704033 20140801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A is_implicated_in DOID:9649 congenital nystagmus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21901789 20170712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8066 NUP62 is_implicated_in DOID:4751 striatonigral degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7685 NDUFA2 is_implicated_in DOID:0112076 nuclear type mitochondrial complex I deficiency 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10681 SDHB is_implicated_in DOID:0080533 Carney-Stratakis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14234 NSD1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23630019 20141114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 is_implicated_in DOID:0060900 Parkinson's disease 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:576 proteinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21910715 20120927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:576 proteinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20200500 20120927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26823876 20190530 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190530 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24673525 20190530 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24286 RRP7A is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210804 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15284449 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12509 UBQLN2 is_implicated_in DOID:0060206 amyotrophic lateral sclerosis type 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:445 SETX is_implicated_in DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9023 PKP1 is_implicated_in DOID:2121 ectodermal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9326952 20070116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:10762 portal hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29112083 20230706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11591192 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8004 NRP1 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29432830 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11453 SULT1A1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14973106 20080924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11429 STX11 is_implicated_in DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10682 SDHC is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25576295 20210815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10821 SH2D2A is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15129233 20080729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17655928 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24687381 20160513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A is_implicated_in DOID:9007 sudden infant death syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16674552 20070618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14674 PCDH15 is_implicated_in DOID:0110832 Usher syndrome type 1F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13918 PRRC2A is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10987645 20090513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13918 PRRC2A is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15842729 20090513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_not_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22956460 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 is_implicated_in DOID:1826 epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32110744 20221102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11340 SS18 is_implicated_in DOID:5485 synovial sarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7951320 20070118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7801 TONSL is_implicated_in DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190731 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9118 PMP22 is_implicated_in DOID:12842 Guillain-Barre syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:12716 newborn respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22574884 20140520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26941 UFC1 is_implicated_in DOID:0070421 neurodevelopmental disorder with spasticity and poor growth ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:0112182 mismatch repair cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12713 VPS41 is_implicated_in DOID:0070410 autosomal recessive spinocerebellar ataxia 29 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210728 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13997 PRDM12 is_implicated_in DOID:0070153 hereditary sensory and autonomic neuropathy type 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12382 TSPYL1 is_implicated_in DOID:14447 gonadal dysgenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15273283 20070212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22950 PREX2 is_implicated_in DOID:4927 Klatskin's tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33387086 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:3996 urinary system cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17619904 20080923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10982 SLC25A12 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15056512 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9587 PTDSS1 is_implicated_in DOID:0111507 Lenz-Majewski hyperostotic dwarfism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12423 TULP1 is_implicated_in DOID:0110381 retinitis pigmentosa 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_not_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17130564 20090828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8853 PEX11B is_implicated_in DOID:0081274 peroxisome biogenesis disorder 14B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10780329 20120720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7512 MUC2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11062147 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9453 PRODH is_implicated_in DOID:0080542 hyperprolinemia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27066539 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28957430 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15648053 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26293 SPEF2 is_implicated_in DOID:0111917 spermatogenic failure 43 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12220450 20130821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA is_implicated_in DOID:0110435 dilated cardiomyopathy 1GG ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8490 ORC4 is_implicated_in DOID:0080513 Meier-Gorlin syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:0060866 patterned macular dystrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181219 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9642 PTPN1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25358 RNF170 is_implicated_in DOID:0112345 hereditary spastic paraplegia 85 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25573287 20160505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24836762 20160505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10599 SCNN1A is_implicated_in DOID:4479 pseudohypoaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8589714 20221207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10599 SCNN1A is_implicated_in DOID:4479 pseudohypoaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18225585 20080318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A is_implicated_in DOID:0111294 generalized epilepsy with febrile seizures plus 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10742094 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A is_implicated_in DOID:0111294 generalized epilepsy with febrile seizures plus 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10432 RPS6KA3 is_implicated_in DOID:0112019 non-syndromic X-linked intellectual disability 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18573313 20081104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23166 PNPT1 is_implicated_in DOID:0110521 autosomal recessive nonsyndromic deafness 70 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18085 TMEM199 is_implicated_in DOID:0070268 congenital disorder of glycosylation type IIp ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8859 PEX6 is_implicated_in DOID:0080377 peroxisomal biogenesis disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18130 SYCP3 is_implicated_in DOID:0070176 spermatogenic failure 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21637 SATB2 is_implicated_in DOID:0060428 SATB2-associated syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11490 SYCP2 is_implicated_in DOID:0070188 spermatogenic failure 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200318 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 is_implicated_in DOID:234 colon adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22121102 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7645 NAT1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12355549 20090225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7432 MTHFD1 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18767138 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17341 TRNT1 is_implicated_in DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10807 SGCD is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8841194 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16224574 20140424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_implicated_in DOID:0070365 nevoid basal cell carcinoma syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25660 TTC21B is_implicated_in DOID:0110088 asphyxiating thoracic dystrophy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19863441 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1330 MYOZ2 is_implicated_in DOID:0110322 hypertrophic cardiomyopathy 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10768 SF3B1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10810 SGK1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16221215 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8618 PAX4 is_implicated_in DOID:1837 diabetic ketoacidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11573 TAT is_implicated_in DOID:0050725 tyrosinemia type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18573360 20140210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17201138 20100315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16575835 20160902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18150 MYO18B is_implicated_in DOID:0080592 Klippel-Feil syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191225 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7678 NDP is_implicated_in DOID:13025 retinopathy of prematurity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9152134 20140729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10586 SCN1B is_implicated_in DOID:0080455 developmental and epileptic encephalopathy 52 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10472 RUNX2 is_implicated_in DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_not_implicated_in DOID:1580 diffuse scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23755762 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_not_implicated_in DOID:1580 diffuse scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19286670 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11506 SYP is_implicated_in DOID:0112035 non-syndromic X-linked intellectual disability 96 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3942 MTOR is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28280736 20181114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9607 PTHLH is_implicated_in DOID:0110976 brachydactyly type E2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29594 UQCRQ is_implicated_in DOID:0080113 mitochondrial complex III deficiency nuclear type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11497 SYNGAP1 is_implicated_in DOID:0070035 autosomal dominant intellectual developmental disorder 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 is_implicated_in DOID:0080089 tubular aggregate myopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16252 SUN5 is_implicated_in DOID:0070184 spermatogenic failure 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9789717 20090805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7516306 20090805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_implicated_in DOID:4992 optic nerve glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21278392 20170214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14411 SLC25A21 is_implicated_in DOID:0070449 mitochondrial DNA depletion syndrome 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200408 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29666 MTFMT is_implicated_in DOID:0112090 nuclear type mitochondrial complex I deficiency 27 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11199 SOX3 is_implicated_in DOID:0111779 X-linked panhypopituitarism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:9008 psoriatic arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9326391 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14124 NPRL3 is_implicated_in DOID:2234 focal epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0111118 nephronophthisis 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0111118 nephronophthisis 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19508969 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0111118 nephronophthisis 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20607301 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:552 pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19387177 20100928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23785 PIKFYVE is_implicated_in DOID:0060448 Fleck corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9832 RAG2 is_implicated_in DOID:0112253 combined cellular and humoral immune defects with granulomas ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7669 NCOA2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23144319 20220719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7794 NFKB1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28797847 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10983 SLC25A13 is_implicated_in DOID:0070341 neonatal-onset type II citrullinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22762534 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2468 SMC3 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25655089 20230118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16357810 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17877 NMNAT1 is_implicated_in DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210414 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9829 RAF1 is_implicated_in DOID:0080549 Noonan syndrome with multiple lentigines 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9817 RAD51 is_implicated_in DOID:0111090 Fanconi anemia complementation group R ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9075 SERPINF2 is_implicated_in DOID:0060601 alpha-2-plasmin inhibitor deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25552 RNF220 is_implicated_in DOID:0070397 hypomyelinating leukodystrophy 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18008 NXN is_implicated_in DOID:0060254 Robinow syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190904 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11117 SMN1 is_implicated_in DOID:0050529 adult spinal muscular atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9456 PROS1 is_implicated_in DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20778 TUBB is_implicated_in DOID:0090136 complex cortical dysplasia with other brain malformations 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_implicated_in DOID:0111387 familial isolated hypoparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2212001 20200520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_implicated_in DOID:0111387 familial isolated hypoparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14565 SORBS1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11532984 20071011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23498762 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:9155 mucocutaneous leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7595196 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12629116 20070515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:0080122 Alpers-Huttenlocher syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20142534 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:0080122 Alpers-Huttenlocher syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15689359 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:0080122 Alpers-Huttenlocher syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22237560 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:0080122 Alpers-Huttenlocher syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16896309 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:0080122 Alpers-Huttenlocher syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:0080348 Alzheimer's disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18145 PHF6 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31186809 20220926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12340 TRPS1 is_implicated_in DOID:0080376 trichorhinophalangeal syndrome type III ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19959 TOGARAM1 is_implicated_in DOID:0050777 Joubert syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11194 SOX18 is_implicated_in DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12740761 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11194 SOX18 is_implicated_in DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10597 SCN9A is_implicated_in DOID:9240 erythromelalgia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10597 SCN9A is_implicated_in DOID:9240 erythromelalgia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16216943 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10597 SCN9A is_implicated_in DOID:9240 erythromelalgia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14985375 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11438 STX3 is_implicated_in DOID:0060774 congenital diarrhea ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210728 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12215082 20151203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16251897 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10994 SLC26A2 is_implicated_in DOID:0050648 atelosteogenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9060 PLCD1 is_implicated_in DOID:0080081 nonsyndromic congenital nail disorder 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A is_implicated_in DOID:0110218 Brugada syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11427 STUB1 is_implicated_in DOID:0111746 cerebellar ataxia type 48 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10968 SLC22A4 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190329 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9279 hyperhomocysteinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12471611 20151228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9279 hyperhomocysteinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10679944 20151228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:0050848 obstructive sleep apnea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19022640 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8724 PCK1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19070910 20090727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15999 SELENON is_implicated_in DOID:0110633 rigid spine muscular dystrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15999 SELENON is_implicated_in DOID:0110633 rigid spine muscular dystrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11528383 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:0070125 congenital nongoitrous hypothyroidism 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 is_implicated_in DOID:3755 antithrombin III deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 is_implicated_in DOID:3755 antithrombin III deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3162535 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21820934 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14374 NLRP1 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 is_implicated_in DOID:12678 hypercalcemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12523 SCGB1A1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21255142 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9416 PRKG2 is_implicated_in DOID:0112295 spondylometaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:9778 irritable bowel syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29416670 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19977 RDH12 is_implicated_in DOID:0110330 Leber congenital amaurosis 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15996 SERPINA10 is_implicated_in DOID:2452 thrombophilia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15461625 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1181 MYRF is_implicated_in DOID:3827 congenital diaphragmatic hernia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30532227 20230322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19381781 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11040 SLC5A5 is_implicated_in DOID:0112185 thyroid dyshormonogenesis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22831837 20140110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12428 TWIST1 is_implicated_in DOID:12960 acrocephalosyndactylia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8988166 20070510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20856 THAP1 is_implicated_in DOID:0090039 torsion dystonia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17755 TNFRSF13C is_implicated_in DOID:0081147 common variable immunodeficiency 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190710 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10006 RHAG is_implicated_in DOID:583 hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10467273 20070208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9260 PPIL1 is_implicated_in DOID:0112325 pontocerebellar hypoplasia type 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9804 RACGAP1 is_implicated_in DOID:1338 congenital dyserythropoietic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220330 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7708 NDUFS2 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18682780 20120420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18483343 20130204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7965 NR1H2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20939869 20120413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7965 NR1H2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17108812 20120413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20376 SUMF1 is_implicated_in DOID:0050441 mucosulfatidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200805 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19672627 20220510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12165563 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20788 RHBDF2 is_implicated_in DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8859 PEX6 is_implicated_in DOID:0080624 Heimler syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11453 SULT1A1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12455060 20180202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10583 SCN11A is_implicated_in DOID:0111731 familial episodic pain syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:218 ascending colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32236609 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21390 RIPPLY2 is_implicated_in DOID:0112360 spondylocostal dysostosis 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:1712 aortic valve stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11359741 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_implicated_in DOID:5408 Paget's disease of bone ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20436471 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11453 SULT1A1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16137826 20111117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8133 OLR1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15562935 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8133 OLR1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12810610 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 is_implicated_in DOID:0111602 distal arthrogryposis type 2B3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190626 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12593 USF1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18593823 20091015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12593 USF1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18445538 20091015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11654 TCOF1 is_implicated_in DOID:2908 Treacher Collins syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9096354 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13387 NEK8 is_implicated_in DOID:0060259 renal-hepatic-pancreatic dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_implicated_in DOID:1273 respiratory syncytial virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17121584 20101005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22236693 20151130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:14018 alcoholic liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25987440 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17348 PRPF3 is_implicated_in DOID:0110356 retinitis pigmentosa 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18253 PARL is_not_implicated_in DOID:2018 hyperinsulinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19185381 20170508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11385576 20180523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21983784 20180523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10775529 20140304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20507924 20140304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20309401 20140304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8850 PEX1 is_implicated_in DOID:0081240 peroxisome biogenesis disorder 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221005 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11317216 20170803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20436377 20170803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:0081373 disabling pansclerotic morphea ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18381966 20080905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_implicated_in DOID:9120 amyloidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15536615 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8851 PEX10 is_implicated_in DOID:0080481 peroxisome biogenesis disorder 6A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180425 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9006 PITX3 is_implicated_in DOID:0110266 cataract 9 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9620774 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7645 NAT1 is_implicated_in DOID:299 adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11266080 20110512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18401 RNF41 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27323192 20230925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16595160 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL is_implicated_in DOID:0060474 familial erythrocytosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28423 STAC3 is_implicated_in DOID:0060346 Native American myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:775 SERPINC1 is_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12595305 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_implicated_in DOID:0110165 Charcot-Marie-Tooth disease type 2E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19743 POMT2 is_implicated_in DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17923109 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11843 TLL1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21911782 20230202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9956 RELB is_implicated_in DOID:0111992 immunodeficiency 53 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10604 SCO2 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11187 SOS1 is_implicated_in DOID:3490 Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20683980 20161207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9056 PLCB3 is_implicated_in DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200812 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12406848 20110131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22306120 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17264398 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27845 SOHLH1 is_implicated_in DOID:0111925 spermatogenic failure 32 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9316 PPP3CC is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12851458 20150216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7566 MYF6 is_implicated_in DOID:422 congenital structural myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11053684 20070312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25812 SRD5A3 is_implicated_in DOID:0080568 congenital disorder of glycosylation Iq ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:2741 bilirubin metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27019981 20200514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11528 TACR3 is_implicated_in DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19480848 20120420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16696 SNW1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19377877 20160212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8617 PAX3 is_implicated_in DOID:0110948 Waardenburg syndrome type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200812 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26620 SPAG17 is_implicated_in DOID:0112337 spermatogenic failure 55 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210707 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_not_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16909454 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_not_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15047635 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20692 TPH2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15768392 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:2921 glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22111818 20120830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30740 TARS2 is_implicated_in DOID:0111465 combined oxidative phosphorylation deficiency 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11720 TECTA is_implicated_in DOID:0110544 autosomal dominant nonsyndromic deafness 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11572 TARS1 is_implicated_in DOID:0111870 nonphotosensitive trichothiodystrophy 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10839 SHBG is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17315164 20070530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11164 SNRPN is_implicated_in DOID:11983 Prader-Willi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8723064 20070417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18038590 20101005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18076107 20120608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15506 TSEN34 is_implicated_in DOID:0060269 pontocerebellar hypoplasia type 2C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9449 PRNP is_implicated_in DOID:0050433 fatal familial insomnia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10721 SELP is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12929084 20070222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12496 UBE3A is_implicated_in DOID:1932 Angelman syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12496 UBE3A is_implicated_in DOID:1932 Angelman syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8988171 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17192 TIRAP is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23821954 20140108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26991 TMEM132E is_implicated_in DOID:0111634 autosomal recessive nonsyndromic deafness 99 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190710 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9312 PPP2R5D is_implicated_in DOID:0070065 autosomal dominant intellectual developmental disorder 35 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:0080750 erythema nodosum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24880677 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16157451 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11600 TBX22 is_implicated_in DOID:0060613 X-linked cleft palate with or without ankyloglossia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17307423 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18455 PROK2 is_implicated_in DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190102 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18083 TRPV4 is_implicated_in DOID:0111215 autosomal dominant distal hereditary motor neuronopathy 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30228 PREPL is_implicated_in DOID:0080587 congenital myasthenic syndrome 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11926 TNFSF11 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17002564 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11445 STXBP2 is_implicated_in DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:3328 temporal lobe epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11835385 20150212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9143 PHOX2B is_implicated_in DOID:0060731 congenital central hypoventilation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24799442 20231122 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9143 PHOX2B is_implicated_in DOID:0060731 congenital central hypoventilation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19201717 20231122 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9143 PHOX2B is_implicated_in DOID:0060731 congenital central hypoventilation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231122 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11334 SSTR5 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12192619 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11503 SYNJ1 is_implicated_in DOID:0060898 Parkinson's disease 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31377187 20191008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9395 PRKCB is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9918525 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9122 PMS2 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16472587 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9122 PMS2 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8072530 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9122 PMS2 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11726 TEP1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27305982 20220602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11726 TEP1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23907815 20220602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22831837 20140110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19042116 20110725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22950 PREX2 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28000796 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15591282 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS is_implicated_in DOID:0050860 colorectal adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16537708 20220202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18662 RAX is_implicated_in DOID:0060842 isolated microphthalmia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:9563 bronchiectasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17245734 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16175 RSPO4 is_implicated_in DOID:0080082 nonsyndromic congenital nail disorder 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190123 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26257 PDZD7 is_implicated_in DOID:0110838 Usher syndrome type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24071 TUBA3D is_implicated_in DOID:10126 keratoconus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25295 TLCD3B is_implicated_in DOID:0050572 cone-rod dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210929 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8856 PEX14 is_implicated_in DOID:0080487 peroxisome biogenesis disorder 13A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180425 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9386 PRKAG2 is_implicated_in DOID:0090101 lethal congenital glycogen storage disease of heart ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25896 ORAI1 is_implicated_in DOID:0080686 tubular aggregate myopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200619 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8575 PAFAH1B2 is_implicated_in DOID:0060058 lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11983068 20100712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23025987 20160914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4206 OPN1MW is_implicated_in DOID:0050679 blue cone monochromacy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11138 SNCA is_implicated_in DOID:0060895 Parkinson's disease 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20357201 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23276910 20151120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7967 NR1H4 is_implicated_in DOID:0070225 progressive familial intrahepatic cholestasis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26190 MTMR14 is_implicated_in DOID:0111223 centronuclear myopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26784 MTRFR is_implicated_in DOID:0111487 combined oxidative phosphorylation deficiency 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23149126 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23745581 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_implicated_in DOID:12554 hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10873870 20130821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7941 NPPC is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_implicated_in DOID:0060902 Norman-Roberts syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28018 NIPAL4 is_implicated_in DOID:0060715 autosomal recessive congenital ichthyosis 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_not_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16331247 20190529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9205 PON2 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20458436 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12306 TRIP12 is_implicated_in DOID:0080234 Clark-Baraitser syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_implicated_in DOID:11396 pulmonary edema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16162765 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11458 SULT2A1 is_not_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16617014 20120914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19869 SCARF2 is_implicated_in DOID:0111699 Van den Ende-Gupta syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26144 PALB2 is_implicated_in DOID:5683 hereditary breast ovarian cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12665 VCL is_implicated_in DOID:0110321 hypertrophic cardiomyopathy 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10803 SFTPD is_implicated_in DOID:1273 respiratory syncytial virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19287351 20100924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11908 TNFRSF11A is_implicated_in DOID:0110946 autosomal recessive osteopetrosis 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25223483 20210601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19797428 20210601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11758 TFG is_implicated_in DOID:0110809 hereditary spastic paraplegia 57 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:37177778 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:13544 low tension glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16148883 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18016 NUP133 is_implicated_in DOID:0080393 nephrotic syndrome type 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1300236 20090810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17192492 20090810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13806 NEUROG3 is_implicated_in DOID:10603 glucose intolerance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15277395 20070831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10683 SDHD is_implicated_in DOID:0080533 Carney-Stratakis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9719 PEX5 is_implicated_in DOID:0110854 rhizomelic chondrodysplasia punctata type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7882 NOTCH2 is_implicated_in DOID:2736 Hajdu-Cheney syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10889 SIX3 is_implicated_in DOID:0110872 holoprosencephaly 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:10923 sickle cell anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24088668 20160909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11926 TNFSF11 is_implicated_in DOID:0110943 autosomal recessive osteopetrosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7529 MVD is_implicated_in DOID:3805 porokeratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16696 SNW1 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20056645 20160212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19923983 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21644011 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9509 PSEN2 is_implicated_in DOID:0110040 Alzheimer's disease 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30032 PACS1 is_implicated_in DOID:0070047 Schuurs-Hoeijmakers Syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18153 TNFRSF13B is_implicated_in DOID:0081145 common variable immunodeficiency 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190710 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12144818 20080711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20859 SLC39A13 is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18985159 20161014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16067 MYOCD is_implicated_in DOID:0112014 congenital megabladder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0050601 ADULT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:3068 glioblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11351043 20180720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:3068 glioblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15517309 20180720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27771518 20200813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10947 SLC20A2 is_implicated_in DOID:0060230 basal ganglia calcification ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24969 NPRL2 is_implicated_in DOID:2234 focal epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9692 PTX3 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20927127 20200715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19218 PLCZ1 is_implicated_in DOID:0070174 spermatogenic failure 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20297 SLITRK1 is_implicated_in DOID:11119 Gilles de la Tourette syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15763 POLR3F is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220629 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29168 RPGRIP1L is_implicated_in DOID:12712 nephronophthisis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17558409 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18308 TMLHE is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11603 TBX4 is_implicated_in DOID:0111382 ischiocoxopodopatellar syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11771 TGFBI is_implicated_in DOID:0080530 granular corneal dystrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9931323 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11028 SLC4A2 is_implicated_in DOID:13533 osteopetrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230510 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15631 TLR7 is_implicated_in DOID:0112063 X-Linked immunodeficiency 74 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200902 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15512 VANGL1 is_implicated_in DOID:0080700 caudal regression syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11596 TBX19 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_implicated_in DOID:0080119 mitochondrial DNA depletion syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10591 SCN4A is_implicated_in DOID:0081355 congenital myopathy 22B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230607 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12441 TYMS is_implicated_in DOID:2729 dyskeratosis congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221207 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11159940 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21993476 20130628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11771 TGFBI is_implicated_in DOID:0060455 Thiel-Behnke corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15351195 20140729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16634032 20140729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23865558 20140729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7467 MTTP is_implicated_in DOID:2018 hyperinsulinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11849654 20070611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12640628 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:11166 Human papillomavirus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23444906 20200814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30046 PINX1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27221889 20220602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20458436 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16 SERPINA3 is_implicated_in DOID:865 vasculitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12685871 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11100 SMARCA4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24556940 20210624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7739 NEFL is_implicated_in DOID:3008 invasive ductal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8814452 20080808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33470690 20220617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17575 SPEN is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33363385 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11022 SLC35A2 is_implicated_in DOID:0070265 congenital disorder of glycosylation type IIm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13797 PRX is_implicated_in DOID:0050540 Charcot-Marie-Tooth disease type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180425 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 is_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22549409 20160902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23166 PNPT1 is_implicated_in DOID:0050974 spinocerebellar ataxia type 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220720 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7146 TRPM1 is_implicated_in DOID:0050534 congenital stationary night blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19878917 20121212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7146 TRPM1 is_implicated_in DOID:0050534 congenital stationary night blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19896113 20121212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7146 TRPM1 is_implicated_in DOID:0050534 congenital stationary night blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19896109 20121212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11741 TFAM is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19925850 20120711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8776 PDE1C is_implicated_in DOID:0112165 autosomal dominant nonsyndromic deafness 74 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26513 NSMCE2 is_implicated_in DOID:0070008 Seckel syndrome 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8623 PAX9 is_implicated_in DOID:0050591 tooth agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12682 VEGFC is_implicated_in DOID:0070209 hereditary lymphedema ID ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7775 NFATC1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28829497 20230418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16365753 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12538 UGT1A6 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29239247 20190513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15468911 20181204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18834925 20181204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11602 TBX3 is_implicated_in DOID:0060614 ulnar-mammary syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_not_implicated_in DOID:3314 angiomyolipoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17932460 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8157 SIGMAR1 is_implicated_in DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10702 SEC23B is_implicated_in DOID:0081003 Cowden syndrome 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9831 RAG1 is_implicated_in DOID:0060010 Omenn syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8860 PEX7 is_implicated_in DOID:0110851 rhizomelic chondrodysplasia punctata type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:2388 renal artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16760910 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:0060578 Noonan syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10484 RYR2 is_implicated_in DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8790 PDE6H is_implicated_in DOID:0081025 retinal cone dystrophy 3A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18341666 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18923449 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12407 TUBA4A is_implicated_in DOID:0060355 amyotrophic lateral sclerosis type 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_not_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17385031 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_not_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15757519 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11105614 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17264398 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16261 SLC22A9 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13429 RLIM is_implicated_in DOID:0112042 Tonne-Kalscheuer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16711 TLR6 is_implicated_in DOID:13564 aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16461792 20101203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:95 SLC33A1 is_implicated_in DOID:0110794 hereditary spastic paraplegia 42 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9666 PTPRC is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11145714 20070222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:34383 PCARE is_implicated_in DOID:0110364 retinitis pigmentosa 54 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17043 NIPA1 is_implicated_in DOID:0110811 hereditary spastic paraplegia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13902 SERPINB7 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16550745 20130130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13902 SERPINB7 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18793525 20130130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13902 SERPINB7 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16796905 20130130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22398043 20120507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8021 NT5E is_implicated_in DOID:0111582 hereditary arterial and articular multiple calcification syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11277 SPTLC1 is_implicated_in DOID:0070152 hereditary sensory and autonomic neuropathy type 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17660222 20120703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_not_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21467606 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12450 TYRP1 is_implicated_in DOID:0050632 oculocutaneous albinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8651291 20070212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:6498 seborrheic keratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_implicated_in DOID:12120 pulmonary alveolar proteinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11946 TNNI2 is_implicated_in DOID:0080954 arthrogryposis multiplex congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12592607 20070206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:12270 coloboma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29146704 20230706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17870627 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11381268 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11484089 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 is_implicated_in DOID:0090056 dystonia 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19087156 20120430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:5426 primary ovarian insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16595552 20140729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16499 RAB39B is_implicated_in DOID:0111781 Waisman syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:11162 respiratory failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8163685 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:11162 respiratory failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12515908 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19689 RD3 is_implicated_in DOID:14791 Leber congenital amaurosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22531706 20161108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20766 TUBA1A is_implicated_in DOID:0112232 lissencephaly 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7983 NR5A1 is_implicated_in DOID:0111772 46,XY sex reversal 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200408 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15631 TLR7 is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33650967 20210615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32110744 20221102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29193083 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25835 THSD4 is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220413 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8787 PDE6C is_implicated_in DOID:0050572 cone-rod dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:0080784 urinary tract infection ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18001294 20130215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11494 SYN1 is_implicated_in DOID:0112029 non-syndromic X-linked intellectual disability 50 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190717 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19480848 20120420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21042 NUS1 is_implicated_in DOID:0080553 congenital disorder of glycosylation Iaa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10809 SGCG is_implicated_in DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10809 SGCG is_implicated_in DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25802879 20180611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_implicated_in DOID:999 hypereosinophilic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8803 PDGFRA is_implicated_in DOID:999 hypereosinophilic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12660384 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:0050733 methylmalonic aciduria and homocystinuria type cblG ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12441 TYMS is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20458436 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30829 TUBB2B is_implicated_in DOID:0090132 complex cortical dysplasia with other brain malformations 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8142 OPA3 is_implicated_in DOID:0111433 optic atrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:10211 cholelithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18081723 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:10211 cholelithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10498597 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:10211 cholelithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17593033 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16173529 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15106800 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21595954 20120619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9832 RAG2 is_implicated_in DOID:0060010 Omenn syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9832 RAG2 is_implicated_in DOID:0060010 Omenn syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9630231 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8063 NUP155 is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:11394 adult respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14718442 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:11394 adult respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15190959 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7728 NEDD4L is_implicated_in DOID:0050454 periventricular nodular heterotopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7602 MYO5A is_implicated_in DOID:0060832 Griscelli syndrome type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:22954 POGLUT1 is_implicated_in DOID:0060256 Dowling-Degos disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14937 PIGS is_implicated_in DOID:0070382 developmental and epileptic encephalopathy 95 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11274 SPTB is_implicated_in DOID:12971 hereditary spherocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19538529 20160415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10590 SCN3A is_implicated_in DOID:0080420 developmental and epileptic encephalopathy 62 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11104 SMARCC1 is_implicated_in DOID:10908 hydrocephalus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11389 STK11 is_implicated_in DOID:4001 ovarian carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10429654 20080710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11799 THRB is_implicated_in DOID:8991 cervix uteri carcinoma in situ ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11483913 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 is_implicated_in DOID:699 mitochondrial myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16155110 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:2799 bronchiolitis obliterans ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20227302 20110411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22856230 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8858 PEX3 is_implicated_in DOID:0080377 peroxisomal biogenesis disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:0080610 anterior segment dysgenesis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200219 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11623 TCF12 is_implicated_in DOID:2340 craniosynostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24698998 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10807 SGCD is_implicated_in DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10597 SCN9A is_implicated_in DOID:0111537 paroxysmal extreme pain disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8022 NT5C2 is_implicated_in DOID:0110797 hereditary spastic paraplegia 45 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6773 SMAD7 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9399897 20170410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9345101 20170410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18426414 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16015369 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28224 UTP23 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26553438 20160401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9173 POLA1 is_implicated_in DOID:0111834 X-linked reticulate pigmentary disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10031 RMRP is_implicated_in DOID:14773 cartilage-hair hypoplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25786 REEP1 is_implicated_in DOID:0110782 hereditary spastic paraplegia 31 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11634 TCF4 is_implicated_in DOID:0060488 Pitt-Hopkins syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9314 PPP3CA is_implicated_in DOID:0080472 developmental and epileptic encephalopathy 91 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9966 REST is_implicated_in DOID:0110556 autosomal dominant nonsyndromic deafness 27 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_implicated_in DOID:3192 neurilemmoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7669741 20211216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9454 PROM1 is_implicated_in DOID:0111019 cone-rod dystrophy 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31750 SAMD12 is_implicated_in DOID:0111690 familial adult myoclonic epilepsy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1349 SAMD9L is_implicated_in DOID:1441 autosomal dominant cerebellar ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9949 RECQL4 is_implicated_in DOID:0050654 Baller-Gerold syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11190 SOX10 is_implicated_in DOID:3614 Kallmann syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23643381 20170410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10024 RLBP1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11176989 20070208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12665 VCL is_implicated_in DOID:0110446 dilated cardiomyopathy 1W ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17019 PRICKLE1 is_implicated_in DOID:0111448 progressive myoclonus epilepsy 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19750 TTC7A is_implicated_in DOID:14671 multiple intestinal atresia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9498 PSAP is_implicated_in DOID:0111330 combined saposin deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7744 NEK1 is_implicated_in DOID:0050592 asphyxiating thoracic dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22499340 20161019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7744 NEK1 is_implicated_in DOID:0050592 asphyxiating thoracic dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21211617 20161019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7432 MTHFD1 is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18661527 20170711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19957 TECPR2 is_implicated_in DOID:0110801 hereditary spastic paraplegia 49 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10799 SFTPA2 is_implicated_in DOID:0050156 idiopathic pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9453 PRODH is_implicated_in DOID:0070080 schizophrenia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16990805 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22954 POGLUT1 is_implicated_in DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9208 POR is_implicated_in DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17993 TRPM4 is_implicated_in DOID:0080766 erythrokeratodermia variabilis et progressiva 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190904 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19763595 20101101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25554 SLC25A36 is_implicated_in DOID:0081328 familial hyperinsulinemic hypoglycemia 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230215 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9038 PLA2G5 is_implicated_in DOID:0111677 familial benign fleck retina ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18246526 20121116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9969 RFC1 is_implicated_in DOID:2366 West Nile fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21881118 20210210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11186 SORT1 is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28698188 20231214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23212 MYH14 is_implicated_in DOID:0110573 autosomal dominant nonsyndromic deafness 4A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26239 STEEP1 is_implicated_in DOID:0112054 non-syndromic X-linked intellectual disability 107 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7693 NDUFA9 is_implicated_in DOID:0112086 nuclear type mitochondrial complex I deficiency 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_implicated_in DOID:0111564 hypoplastic or aplastic tibia with polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19847792 20170330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14988818 20080924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29168 RPGRIP1L is_implicated_in DOID:0110414 retinitis pigmentosa 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22183348 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:2055 post-traumatic stress disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22143634 20231006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:14499 Fabry disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18278558 20170918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12010 TPM1 is_implicated_in DOID:0110309 hypertrophic cardiomyopathy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8157 SIGMAR1 is_implicated_in DOID:0060207 amyotrophic lateral sclerosis type 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10351 RPL3L is_implicated_in DOID:0081160 dilated cardiomyopathy 2D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210616 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11588 TBP is_implicated_in DOID:0060892 late onset Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_not_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12018331 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9596 PTGER4 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21818367 20120524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12606537 20130322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12017 TPR is_implicated_in DOID:0060308 autosomal recessive intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230531 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26870106 20181005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7698 NDUFB3 is_implicated_in DOID:0112067 nuclear type mitochondrial complex I deficiency 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12767 NSD3 is_implicated_in DOID:8692 myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11986249 20070219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11908 TNFRSF11A is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17002564 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10306 RPL15 is_implicated_in DOID:0111882 Diamond-Blackfan anemia 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_not_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18181266 20231006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_not_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12960749 20231006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:1025 tuberculoid leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9062973 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9181 POLH is_implicated_in DOID:0050671 female breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30303537 20220609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8038 NTS is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7856 NQO2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12423 TULP1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9462750 20070510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:1727 retinal vein occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24250697 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:1727 retinal vein occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23289804 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3182 PHC1 is_implicated_in DOID:0070287 primary autosomal recessive microcephaly 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28852 SYCE1 is_implicated_in DOID:0080869 primary ovarian insufficiency 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15899 NDUFAF5 is_implicated_in DOID:0112096 nuclear type mitochondrial complex I deficiency 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21558 RSPH4A is_implicated_in DOID:0110602 primary ciliary dyskinesia 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9305 PPP2R2B is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21029765 20120118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7706 NDUFC2 is_implicated_in DOID:0112065 nuclear type mitochondrial complex I deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210203 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10274 RP2 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10937588 20070208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15910 NFS1 is_implicated_in DOID:0070425 combined oxidative phosphorylation deficiency 52 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210707 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 is_implicated_in DOID:0080954 arthrogryposis multiplex congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15282353 20070313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 is_implicated_in DOID:2280 hidradenitis suppurativa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210721 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10969 SLC22A5 is_implicated_in DOID:14365 systemic primary carnitine deficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10969 SLC22A5 is_implicated_in DOID:14365 systemic primary carnitine deficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12408185 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:10609 rickets ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2849209 20070510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17296 RRM2B is_implicated_in DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9462 PRPS1 is_implicated_in DOID:0111739 X-linked deafness 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9462 PRPS1 is_implicated_in DOID:0111739 X-linked deafness 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25785835 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22699455 20160505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:0070016 autosomal dominant dyskeratosis congenita 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180919 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25583 ODAD2 is_implicated_in DOID:0110609 primary ciliary dyskinesia 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17158 PLD3 is_implicated_in DOID:0080288 spinocerebellar ataxia 46 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9707 NECTIN2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22159054 20120627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9455 PROP1 is_implicated_in DOID:9410 panhypopituitarism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28993 PIEZO1 is_implicated_in DOID:0111576 dehydrated hereditary stomatocytosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8104 OCLN is_implicated_in DOID:0050656 pseudo-TORCH syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12539 UGT1A7 is_not_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17072959 20100407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24519 TCTN3 is_implicated_in DOID:0110987 Joubert syndrome 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7952 NPTX1 is_implicated_in DOID:1441 autosomal dominant cerebellar ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230104 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16310481 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11597 TBX2 is_implicated_in DOID:1882 atrial heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30525309 20230824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12732398 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11440 STX5 is_implicated_in DOID:0050571 congenital disorder of glycosylation type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230802 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10825 SH3BP2 is_implicated_in DOID:1856 cherubism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10825 SH3BP2 is_implicated_in DOID:1856 cherubism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11381256 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19823053 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10892 SIX6 is_implicated_in DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200311 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12525 UGDH is_implicated_in DOID:0112219 developmental and epileptic encephalopathy 84 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200318 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7696 NDUFB10 is_implicated_in DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200930 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11270 SPRY2 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:13544 low tension glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20357201 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 is_implicated_in DOID:8545 malignant hyperthermia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5056 TLX1 is_implicated_in DOID:0050523 adult T-cell leukemia/lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1683261 20070205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10922 SLC16A1 is_implicated_in DOID:0070214 familial hyperinsulinemic hypoglycemia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23240626 20200217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27101936 20200217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29947302 20200217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11191 SOX11 is_implicated_in DOID:0070057 Coffin-Siris syndrome 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10472 RUNX2 is_implicated_in DOID:13994 cleidocranial dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9182765 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10472 RUNX2 is_implicated_in DOID:13994 cleidocranial dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16910460 20101005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11207353 20101005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:1984 rectal benign neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21865946 20120917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:5426 primary ovarian insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18345 TENT5A is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25884493 20190220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8781 PDE4B is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10440 RPS7 is_implicated_in DOID:0111881 Diamond-Blackfan anemia 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9603 PTGIS is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12372404 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18599 TUBGCP2 is_implicated_in DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9725 PYGL is_implicated_in DOID:2747 glycogen storage disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9536091 20070131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18466 RNASEH1 is_implicated_in DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8616 PAX2 is_implicated_in DOID:0111132 focal segmental glomerulosclerosis 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11743 TFAP2B is_implicated_in DOID:0060563 Char syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA is_implicated_in DOID:0060537 mitochondrial complex II deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210203 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17976 RPL10L is_implicated_in DOID:0112356 spermatogenic failure 63 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220126 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25641 RNLS is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17216203 20130913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13406 PCLO is_implicated_in DOID:0060272 pontocerebellar hypoplasia type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9008 PKD1 is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12842373 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26408672 20161215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:11202 primary hyperparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9070272 20170915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16088 SFXN4 is_implicated_in DOID:0111484 combined oxidative phosphorylation deficiency 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10024 RLBP1 is_implicated_in DOID:8499 night blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11453974 20070208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:0081001 Cowden syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:53924 NOTCH2NLC is_implicated_in DOID:0081294 neuronal intranuclear inclusion disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20693430 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23099237 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0050864 non-arteritic anterior ischemic optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20162297 20140711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11194890 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10402 RPS19 is_implicated_in DOID:1339 Diamond-Blackfan anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15523650 20070207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10402 RPS19 is_implicated_in DOID:1339 Diamond-Blackfan anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9988267 20070207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1343 TRAF3IP2 is_implicated_in DOID:0111287 psoriasis 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:1555 urticaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22722472 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17340 PRPF8 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11468273 20070119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34758666 20231120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26661 RNF168 is_implicated_in DOID:0090113 RIDDLE syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11633 TCF3 is_implicated_in DOID:0081143 agammaglobulinemia 8B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220831 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18776126 20130619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11190 SOX10 is_implicated_in DOID:0110955 Waardenburg syndrome type 4C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:3042 allergic contact dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9303338 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21465496 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:1459 hypothyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22493691 20120629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_implicated_in DOID:1936 atherosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19413180 20130809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:14018 alcoholic liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26873981 20200513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10914 SLC12A6 is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221012 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15808177 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9201 POMC is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9201 POMC is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15189116 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19690016 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9488521 20100521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15170499 20090707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23230 UBA5 is_implicated_in DOID:0111615 autosomal recessive spinocerebellar ataxia 24 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9006 PITX3 is_implicated_in DOID:0060648 anterior segment dysgenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18989383 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:10603 glucose intolerance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11889198 20071004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9069 PLEC is_implicated_in DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9646 PTPN13 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16489062 20220524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12665 VCL is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16236538 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23787 TMEM63C is_implicated_in DOID:0070456 hereditary spastic paraplegia 87 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220810 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9700198 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7979 NR3C2 is_implicated_in DOID:4479 pseudohypoaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16972228 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_implicated_in DOID:1558 angioedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12402344 20070313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_not_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21364883 20181030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17091 NCSTN is_not_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27008863 20181030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:5614 eye disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16299146 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 is_implicated_in DOID:1996 rectum adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22121102 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0070004 myeloid neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23107469 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30035 PIK3R5 is_implicated_in DOID:0060557 ataxia with oculomotor apraxia type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17982230 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9411 PRKCSH is_implicated_in DOID:0050770 polycystic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190528 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9411 PRKCSH is_implicated_in DOID:0050770 polycystic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15057895 20190528 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10805 SGCA is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8069911 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10805 SGCA is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9192266 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1665 SCARB2 is_implicated_in DOID:0111444 progressive myoclonus epilepsy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29105 PLEKHG5 is_implicated_in DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10069 RNF6 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9717 PEX2 is_implicated_in DOID:0080377 peroxisomal biogenesis disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9075 SERPINF2 is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32747830 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16187 SLC52A3 is_implicated_in DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19622139 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15282200 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21103062 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8957 PIGA is_implicated_in DOID:0060284 paroxysmal nocturnal hemoglobinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12424196 20220727 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8957 PIGA is_implicated_in DOID:0060284 paroxysmal nocturnal hemoglobinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220727 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13831 WDR11 is_implicated_in DOID:0060308 autosomal recessive intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230215 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16894623 20120330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14732589 20120330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26703 SYNE4 is_implicated_in DOID:0110524 autosomal recessive nonsyndromic deafness 76 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9308 PTPA is_implicated_in DOID:0070486 Parkinson's disease 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230906 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:0050922 gastrointestinal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20230816 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25231748 20220610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29605 SH2B3 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26553438 20220726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 is_implicated_in DOID:589 congenital hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16227998 20160114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10521 SAG is_implicated_in DOID:8498 hereditary night blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7670478 20070207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18383208 20080819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16438 SLC4A11 is_implicated_in DOID:11555 Fuchs' endothelial dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9460 PROZ is_implicated_in DOID:2316 brain ischemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14671240 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:0050456 Buruli ulcer disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11603 TBX4 is_implicated_in DOID:381 arthropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15106123 20070419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27034168 20201116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9509 PSEN2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16474849 20081223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7551 MYBPC3 is_implicated_in DOID:0110310 hypertrophic cardiomyopathy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7707 NDUFS1 is_implicated_in DOID:0112068 nuclear type mitochondrial complex I deficiency 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9200 POLRMT is_implicated_in DOID:0070428 combined oxidative phosphorylation deficiency 55 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29824 MYL11 is_implicated_in DOID:0112190 distal arthrogryposis type 1C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18774170 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 is_not_implicated_in DOID:0060249 scoliosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21192222 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 is_not_implicated_in DOID:0060249 scoliosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21308753 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17434873 20110330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_implicated_in DOID:0060062 familial juvenile hyperuricemic nephropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_implicated_in DOID:0060062 familial juvenile hyperuricemic nephropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23396133 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25223483 20210601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9832 RAG2 is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8810255 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:326 ischemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17719079 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 is_implicated_in DOID:0080326 familial hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7898523 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27283772 20191029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20858 SLC39A14 is_implicated_in DOID:0080537 hypermanganesemia with dystonia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:9111 cutaneous leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20089160 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11799 THRB is_implicated_in DOID:0111374 selective pituitary thyroid hormone resistance ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19743 POMT2 is_implicated_in DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17089 SYNE1 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28178086 20170828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11847 TLR1 is_implicated_in DOID:11400 pyelonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19543401 20130621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_implicated_in DOID:2871 endometrial carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18572225 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28984 WASHC5 is_implicated_in DOID:0060571 Ritscher-Schinzel syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181010 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16380 TRIM32 is_implicated_in DOID:0110133 Bardet-Biedl syndrome 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8773 PDE11A is_implicated_in DOID:0060280 primary pigmented nodular adrenocortical disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_implicated_in DOID:2030 anxiety disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22328461 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:10952 nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22895845 20160913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11623 TCF12 is_implicated_in DOID:0090070 hypogonadotropic hypogonadism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30500 PRRT2 is_implicated_in DOID:0090053 episodic kinesigenic dyskinesia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8788 PDE6D is_implicated_in DOID:0110991 Joubert syndrome 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17296 RRM2B is_implicated_in DOID:0080127 mitochondrial DNA depletion syndrome 8a ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12406 TUB is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8772727 20070614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_not_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15808403 20110512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11596 TBX19 is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11290323 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11547 TAF15 is_implicated_in DOID:3371 chondrosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10602519 20070129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16628 SLC49A4 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11912179 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7661 NCF2 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17897462 20210204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12752570 20231005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA is_implicated_in DOID:3774 chordoid glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29476136 20180817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12539 UGT1A7 is_implicated_in DOID:4988 alcoholic pancreatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12806614 20100407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12269 TREX1 is_implicated_in DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7609 MYO9B is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25902 POMGNT2 is_implicated_in DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:27344 TMEM218 is_implicated_in DOID:0050777 Joubert syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211027 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23213 PIGW is_implicated_in DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15515785 20170714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7569 MYH11 is_implicated_in DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210616 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11536 TAF2 is_implicated_in DOID:0081205 autosomal recessive intellectual developmental disorder 40 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11708 TDO2 is_implicated_in DOID:11119 Gilles de la Tourette syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8873217 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16356 USH1G is_implicated_in DOID:0110834 Usher syndrome type 1G ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17877 NMNAT1 is_implicated_in DOID:0110005 Leber congenital amaurosis 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11362 STAT1 is_implicated_in DOID:0111946 immunodeficiency 31C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30074 POLR3A is_implicated_in DOID:0060794 hypomyelinating leukodystrophy 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18591 NEK9 is_implicated_in DOID:0060558 lethal congenital contracture syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12014 TPMT is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22009189 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12014 TPMT is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24499706 20160223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9990 RGR is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10581022 20070208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24529 TMEM98 is_implicated_in DOID:0080634 nanophthalmos ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_implicated_in DOID:0080188 chronic myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20693430 20160219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25018 TMEM216 is_implicated_in DOID:0050777 Joubert syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20512146 20161111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA is_implicated_in DOID:3146 lipid metabolism disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10828087 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29250 WDR35 is_implicated_in DOID:0080804 cranioectodermal dysplasia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22987818 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29250 WDR35 is_implicated_in DOID:0080804 cranioectodermal dysplasia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:0002116 pterygium ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14716324 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16711 TLR6 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18091991 20130624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 is_implicated_in DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190703 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14289 NLGN3 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11796 THRA is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11756220 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25358 RNF170 is_implicated_in DOID:0111170 autosomal dominant sensory ataxia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11458 SULT2A1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22542949 20120914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9580 PSTPIP1 is_implicated_in DOID:0080519 PAPA syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19172505 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25641 RNLS is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21964580 20130913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25641 RNLS is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21617193 20130913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29529 TBL1XR1 is_implicated_in DOID:0070071 autosomal dominant intellectual developmental disorder 41 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 is_implicated_in DOID:9743 diabetic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16373902 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10994 SLC26A2 is_implicated_in DOID:14687 diastrophic dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10482955 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10994 SLC26A2 is_implicated_in DOID:14687 diastrophic dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7907 NPHP3 is_implicated_in DOID:0111114 nephronophthisis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12872122 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7907 NPHP3 is_implicated_in DOID:0111114 nephronophthisis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21565239 20111020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12597 USH1C is_implicated_in DOID:0110830 Usher syndrome type 1C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12597 USH1C is_implicated_in DOID:0110830 Usher syndrome type 1C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10973247 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23508 STOX1 is_not_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17617193 20161017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20016751 20110722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:1115 sarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31089155 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:0080750 erythema nodosum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12198697 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53924 NOTCH2NLC is_implicated_in DOID:0081299 oculopharyngodistal myopathy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210825 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12440 TYK2 is_implicated_in DOID:0111989 immunodeficiency 35 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19732761 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15219383 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17348243 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14530 SP6 is_implicated_in DOID:2187 amelogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221102 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11904 TNFRSF10A is_implicated_in DOID:0050746 mantle cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15531454 20160222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11904 TNFRSF10A is_implicated_in DOID:0050746 mantle cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16217763 20160222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20981038 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23150 UNC13A is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19734901 20120120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9594 PTGER2 is_implicated_in DOID:0111579 asthma, nasal polyps, and aspirin intolerance ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19159017 20101012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11608 TBXA2R is_implicated_in DOID:0080822 aspirin-induced respiratory disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15898979 20160415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:12712 nephronophthisis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29956005 20230706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:0050156 idiopathic pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17392301 20160218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11006 SLC2A2 is_implicated_in DOID:2747 glycogen storage disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9354798 20070507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14929 SIRT1 is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9949199 20150826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9005 PITX2 is_implicated_in DOID:0050647 Arts syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17701896 20170620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8847 PER3 is_implicated_in DOID:0050628 advanced sleep phase syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11306557 20150212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10729395 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15654285 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7983 NR5A1 is_implicated_in DOID:0111764 46,XX sex reversal 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200408 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21863 RBM28 is_implicated_in DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12582 UQCRB is_implicated_in DOID:0080112 mitochondrial complex III deficiency nuclear type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:10811 nasal cavity cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19950227 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23352 PIBF1 is_implicated_in DOID:0080279 Joubert syndrome 33 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19237 NANS is_implicated_in DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17428620 20140610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:1495 cystic echinococcosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31437685 20191220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29958 SDR9C7 is_implicated_in DOID:0080257 autosomal recessive congenital ichthyosis 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11389 STK11 is_implicated_in DOID:3701 cervical mucinous adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12533684 20080404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10807 SGCD is_implicated_in DOID:0110436 dilated cardiomyopathy 1L ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29936 TTC29 is_implicated_in DOID:0111923 spermatogenic failure 42 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21897619 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15927374 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21947961 20111011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11212 SPAG1 is_implicated_in DOID:0110607 primary ciliary dyskinesia 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26006 TTC19 is_implicated_in DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10483 RYR1 is_implicated_in DOID:13100 intracranial vasospasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21503806 20230519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22703762 20131104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9477 PRSS12 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12459588 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12572 UNG is_implicated_in DOID:0060759 immunodeficiency with hyper IgM type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180725 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11453 SULT1A1 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16985250 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9160 PNMT is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17645789 20110407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15389774 20170214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9118 PMP22 is_implicated_in DOID:0110153 Charcot-Marie-Tooth disease type 1E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180919 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9820 RAD51C is_implicated_in DOID:5683 hereditary breast ovarian cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21043 PITPNM3 is_implicated_in DOID:0111010 cone-rod dystrophy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18145 PHF6 is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33779075 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10887 SIX1 is_implicated_in DOID:0110553 autosomal dominant nonsyndromic deafness 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:33778 MYMK is_implicated_in DOID:0080194 Carey-Fineman-Ziter syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220706 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15258789 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8912 PHB1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11377649 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8912 PHB1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15574195 20120106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12649 VAPB is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15372378 20120221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11109 SMARCE1 is_implicated_in DOID:3565 meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29409008 20220414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23183616 20200814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24615072 20200814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_not_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24121255 20151203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26257 PDZD7 is_implicated_in DOID:0111635 autosomal recessive nonsyndromic deafness 57 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27982019 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24679952 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23041 PDSS2 is_implicated_in DOID:0070240 primary coenzyme Q10 deficiency 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7551 MYBPC3 is_implicated_in DOID:0081158 dilated cardiomyopathy 1MM ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7631 NAGA is_implicated_in DOID:0112319 Kanzaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211013 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:9120 amyloidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23052617 20170728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_implicated_in DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231108 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:0110032 autosomal dominant Alport syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12500226 20120924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20151 SLC17A8 is_implicated_in DOID:0110555 autosomal dominant nonsyndromic deafness 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25786 REEP1 is_implicated_in DOID:0111205 autosomal dominant distal hereditary motor neuronopathy 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772397 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9706 NECTIN1 is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10932188 20070215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_implicated_in DOID:0080939 hereditary angioedema type I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11944 TNNC2 is_implicated_in DOID:0081347 congenital myopathy 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230301 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 is_implicated_in DOID:0110859 polycystic kidney disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7632 NAGLU is_implicated_in DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9388 PRKAR1A is_implicated_in DOID:14669 acrodysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:1577 limited scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16112028 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_not_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11424981 20231009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12012 TPM3 is_implicated_in DOID:0110926 nemaline myopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO is_implicated_in DOID:8499 night blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8358437 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11599 TBX21 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10593 SCN5A is_implicated_in DOID:0111074 progressive familial heart block type IA ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9121 PMS1 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8072530 20070117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11535 TAF1 is_implicated_in DOID:0060309 syndromic X-linked intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11592 TBX1 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7508 MUC1 is_implicated_in DOID:10140 dry eye syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18619437 20130923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9220 POU4F3 is_implicated_in DOID:0110546 autosomal dominant nonsyndromic deafness 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:8725 vascular dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11273064 20181204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24194196 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:0070095 oculocutaneous albinism type IB ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11132 SNAP25 is_implicated_in DOID:0110683 congenital myasthenic syndrome 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9987 RFXANK is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12618906 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_implicated_in DOID:0111253 neurofibromatosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2134734 20220414 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_implicated_in DOID:0111253 neurofibromatosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32575496 20220414 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_implicated_in DOID:0111253 neurofibromatosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220414 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11204 SOX9 is_implicated_in DOID:0050463 campomelic dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8925 PHKA1 is_implicated_in DOID:2747 glycogen storage disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12825073 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12666 VCP is_implicated_in DOID:0110168 Charcot-Marie-Tooth disease type 2Y ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8785 PDE6A is_implicated_in DOID:0110379 retinitis pigmentosa 43 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9966 REST is_implicated_in DOID:0080280 gingival fibromatosis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12261 TRDN is_implicated_in DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22422768 20130917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9586 PTCH2 is_implicated_in DOID:0050902 medulloblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12591 UROD is_implicated_in DOID:3132 porphyria cutanea tarda ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2920211 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12591 UROD is_implicated_in DOID:3132 porphyria cutanea tarda ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11183 SON is_implicated_in DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31005274 20221107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24121255 20151203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19806585 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9608 PTH1R is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8703170 20070222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:9206 Barrett's esophagus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25910066 20170906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17760 TREM1 is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27671831 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8108 OCRL is_implicated_in DOID:1056 oculocerebrorenal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30348 POLR3B is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22402138 20140120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9005 PITX2 is_implicated_in DOID:0110120 Axenfeld-Rieger syndrome type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8654 PCCB is_implicated_in DOID:9252 amino acid metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8411997 20070307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:0060496 respiratory allergy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18086269 20110131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16001 SUGCT is_implicated_in DOID:0112246 glutaric acidemia type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21820934 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23734 PTF1A is_implicated_in DOID:0050877 pancreatic agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23460398 20170214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10908 SLC11A2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21777657 20120301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29250 WDR35 is_implicated_in DOID:12714 Ellis-Van Creveld syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25908617 20161017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12404 TTPA is_implicated_in DOID:0090028 familial isolated deficiency of vitamin E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18084 TRPV3 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20042636 20121212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11828 TJP2 is_implicated_in DOID:0070224 progressive familial intrahepatic cholestasis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:0110548 autosomal dominant nonsyndromic deafness 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26226608 20160912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9330 PQBP1 is_implicated_in DOID:0060179 Renpenning syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29832 NADSYN1 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22740028 20180802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7678 NDP is_implicated_in DOID:0060844 Norrie disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16268 PNPLA6 is_implicated_in DOID:0111271 Oliver-McFarlane syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12347 TRRAP is_implicated_in DOID:0112166 autosomal dominant nonsyndromic deafness 75 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7594 MYO15A is_implicated_in DOID:0110488 autosomal recessive nonsyndromic deafness 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22552381 20140106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_not_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24648611 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23276910 20151120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25737 NHEJ1 is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19483196 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 is_implicated_in DOID:14219 renal tubular acidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22919024 20160113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11027 SLC4A1 is_implicated_in DOID:14219 renal tubular acidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22126643 20160113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12441 TYMS is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22763757 20160506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_not_implicated_in DOID:769 neuroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9288759 20070208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A is_implicated_in DOID:0060170 generalized epilepsy with febrile seizures plus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11823106 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9498 PSAP is_implicated_in DOID:0060892 late onset Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3018 SLC26A3 is_implicated_in DOID:0060296 congenital secretory chloride diarrhea 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28520 TERB2 is_implicated_in DOID:0112357 spermatogenic failure 59 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211222 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8734 NUP85 is_implicated_in DOID:0080392 nephrotic syndrome type 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10830 SH3GL1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12692006 20071205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9388 PRKAR1A is_implicated_in DOID:0060280 primary pigmented nodular adrenocortical disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:114 heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10381332 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7527 MUTYH is_implicated_in DOID:0050424 familial adenomatous polyposis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11818965 20070302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 is_implicated_in DOID:0111797 autosomal recessive congenital nystagmus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25608 VPS53 is_implicated_in DOID:0060271 pontocerebellar hypoplasia type 2E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12428 TWIST1 is_implicated_in DOID:0080538 Sweeney-Cox syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10310 RPL18 is_implicated_in DOID:0111896 Diamond-Blackfan anemia 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29118 TMEM63A is_implicated_in DOID:0070400 hypomyelinating leukodystrophy 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191225 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29605 SH2B3 is_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9206 PON3 is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16822964 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14565 SORBS1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11532984 20071011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8622 PAX8 is_implicated_in DOID:0070124 congenital nongoitrous hypothyroidism 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10937 SLC19A1 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11947 TNNI3 is_implicated_in DOID:0110313 hypertrophic cardiomyopathy 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11311 SRY is_implicated_in DOID:0111778 46,XY sex reversal 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_implicated_in DOID:0111268 autosomal recessive hyaline body myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10778 SFRP4 is_implicated_in DOID:0080019 metaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9682 PTPRT is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25967969 20211104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30172 STRADA is_implicated_in DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18084 TRPV3 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21970977 20121211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15670788 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26033 PUS7 is_implicated_in DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:1936 atherosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17899317 20120917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9090379 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7944 NPR2 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10082481 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21698 RNF216 is_implicated_in DOID:0111587 Gordon Holmes syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_implicated_in DOID:3770 pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:13680361 20100923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18063 STARD7 is_implicated_in DOID:0111692 familial adult myoclonic epilepsy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_implicated_in DOID:13166 allergic bronchopulmonary aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20646338 20110421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9666 PTPRC is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11101853 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9004 PITX1 is_implicated_in DOID:11836 clubfoot ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15286263 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11795 THPO is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24085763 20160503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF is_implicated_in DOID:11758 iron deficiency anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11703331 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_implicated_in DOID:0081139 agammaglobulinemia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30551 TXNL4A is_implicated_in DOID:0080695 Burn-McKeown syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28905882 20230119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30551 TXNL4A is_implicated_in DOID:0080695 Burn-McKeown syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25434003 20230119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30551 TXNL4A is_implicated_in DOID:0080695 Burn-McKeown syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 is_implicated_in DOID:1389 polyneuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12815947 20180131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10856 SI is_implicated_in DOID:0111633 congenital sucrase-isomaltase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9406 hypopituitarism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21107737 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19531762 20140106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23801 SIPA1L3 is_implicated_in DOID:0110262 cataract 45 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11480 SVIL is_implicated_in DOID:0112108 myofibrillar myopathy 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201021 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11821 TIMP2 is_implicated_in DOID:13099 Moyamoya disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16723886 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9811 RAD21 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28977903 20211022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:3770 pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12030733 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10006 RHAG is_implicated_in DOID:0050641 Rh deficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11708 TDO2 is_implicated_in DOID:0111703 familial hypertryptophanemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200311 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11336 SSX2 is_implicated_in DOID:5485 synovial sarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8744 PCSK2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7698505 20090619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19996639 20120917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_not_implicated_in DOID:74 hematopoietic system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23827973 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29168 RPGRIP1L is_implicated_in DOID:8725 vascular dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22425971 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7715 NDUFS8 is_implicated_in DOID:0112083 nuclear type mitochondrial complex I deficiency 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11301 SRP54 is_implicated_in DOID:0112135 severe congenital neutropenia 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21597364 20120629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7569 MYH11 is_implicated_in DOID:13832 patent ductus arteriosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16444274 20230202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7569 MYH11 is_implicated_in DOID:13832 patent ductus arteriosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27418595 20230202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22619378 20160923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25481 TRMU is_implicated_in DOID:0080716 infantile liver failure syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19732863 20200419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27644568 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1181 MYRF is_implicated_in DOID:1405 primary angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:36129575 20230322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12509 UBQLN2 is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21857683 20110823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18246526 20121116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 is_implicated_in DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 is_implicated_in DOID:10457 Legionnaires' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14623910 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 is_implicated_in DOID:10457 Legionnaires' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9475 PRSS1 is_implicated_in DOID:4989 pancreatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8841182 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:9562 primary ciliary dyskinesia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210818 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10969 SLC22A5 is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3974805 20070507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11280 SQSTM1 is_implicated_in DOID:0081363 distal myopathy with rimmed vacuoles ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230607 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8602 PAPPA is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17700210 20070912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9154 PNKP is_implicated_in DOID:0080457 microcephaly, seizures, and developmental delay ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15148588 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8620 PAX6 is_implicated_in DOID:9649 congenital nystagmus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15629294 20140417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26054 SLC25A38 is_implicated_in DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_implicated_in DOID:4248 coronary stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10571959 20120720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21767974 20111118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7957 NPY2R is_implicated_in DOID:11981 morbid obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15855352 20070913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:2452 thrombophilia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16570355 20151228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11040 SLC5A5 is_implicated_in DOID:0050328 congenital hypothyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9171822 20070507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21559380 20190806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25179842 20190806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22213323 20140207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16950800 20140207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11048 SLC6A2 is_implicated_in DOID:11569 neurocirculatory asthenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10684912 20070507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11289 SREBF1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18692268 20090609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:0050753 cerebellar ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20803511 20140728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8925 PHKA1 is_implicated_in DOID:0111040 glycogen storage disease IXd ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:10325 silicosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11264025 20100913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9802 RAC2 is_implicated_in DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200902 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28862 NIPBL is_implicated_in DOID:0080505 Cornelia de Lange syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_not_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26042510 20231006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:0060131 alexithymia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26609890 20200810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:0111359 large congenital melanocytic nevus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20383146 20130501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15508 PUS1 is_implicated_in DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15925 SAMHD1 is_implicated_in DOID:0060386 Chilblain lupus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10733466 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12008 TPH1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15182943 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A is_implicated_in DOID:14791 Leber congenital amaurosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21901789 20170712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17175 PLCE1 is_implicated_in DOID:0080379 nephrotic syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20591883 20130821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18122 SOX17 is_not_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31250579 20230717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8847 PER3 is_implicated_in DOID:0110013 advanced sleep phase syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11908 TNFRSF11A is_implicated_in DOID:5408 Paget's disease of bone ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10615125 20070205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17175 PLCE1 is_implicated_in DOID:1184 nephrotic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17086182 20130821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24729511 20220228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12428 TWIST1 is_implicated_in DOID:2340 craniosynostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10980 SLC25A10 is_implicated_in DOID:0070450 mitochondrial DNA depletion syndrome 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200812 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7652 NBN is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_implicated_in DOID:9008 psoriatic arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23127549 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0050830 peripheral artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16274479 20120917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26901 OTOGL is_implicated_in DOID:0110530 autosomal recessive nonsyndromic deafness 84B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25994 NSUN2 is_implicated_in DOID:0081181 autosomal recessive intellectual developmental disorder 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_implicated_in DOID:0070197 distal myopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_implicated_in DOID:0080325 tuberous sclerosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9871 RASA1 is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8275088 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9871 RASA1 is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7856 NQO2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18314446 20160503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11824 TINF2 is_implicated_in DOID:0070026 Revesz syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6107 PDX1 is_implicated_in DOID:0050877 pancreatic agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8007 NRTN is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9700200 20070306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18518 RNASEH2A is_implicated_in DOID:0050629 Aicardi-Goutieres syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12660 VAX1 is_implicated_in DOID:0111804 syndromic microphthalmia 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:22082 VMA21 is_implicated_in DOID:0050760 X-linked myopathy with excessive autophagy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 is_implicated_in DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22777106 20130418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12633 USP9Y is_implicated_in DOID:0070187 Y-linked spermatogenic failure 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21065 SLC25A27 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17066476 20120507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10519 SACS is_implicated_in DOID:0050946 Charlevoix-Saguenay spastic ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:0060573 von Willebrand's disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8839833 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12726 VWF is_implicated_in DOID:0060573 von Willebrand's disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20223031 20110502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15936 NCOA6 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10567404 20141114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8616 PAX2 is_implicated_in DOID:0090006 renal coloboma syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1268 TSPEAR is_implicated_in DOID:0111662 ectodermal dysplasia 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24641 VPS35L is_implicated_in DOID:0060565 Ritscher-Schinzel syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210113 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10069 RNF6 is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12154016 20070208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10702 SEC23B is_implicated_in DOID:0111401 congenital dyserythropoietic anemia type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191009 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10935 SLC18A2 is_implicated_in DOID:0070490 infantile parkinsonism-dystonia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30056167 20201212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16499 RAB39B is_implicated_in DOID:0112059 non-syndromic X-linked intellectual disability 72 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12441 TYMS is_not_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17655928 20160506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11577 TAFAZZIN is_implicated_in DOID:0050476 Barth syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9346 PRDM1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31376415 20211209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20335603 20140508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14557182 20140508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10718 SELE is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11828340 20070531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7623 MYT1L is_implicated_in DOID:0070069 autosomal dominant intellectual developmental disorder 39 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11557 TAL2 is_implicated_in DOID:0050523 adult T-cell leukemia/lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1763056 20070131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12582 UQCRB is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12709789 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18083 TRPV4 is_implicated_in DOID:0111552 scapuloperoneal spinal muscular atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_not_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16078327 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_implicated_in DOID:3565 meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7669741 20211216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29914 NUP107 is_implicated_in DOID:0080498 ovarian dysgenesis 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9692 PTX3 is_implicated_in DOID:0050073 invasive aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30275011 20200818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7808 NGF is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21178826 20130423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15888 RTEL1 is_implicated_in DOID:3717 gastric adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27366209 20220609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8896 PGK1 is_implicated_in DOID:583 hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16740138 20070117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7763 NEUROD2 is_implicated_in DOID:0112208 developmental and epileptic encephalopathy 72 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7958 NPY5R is_implicated_in DOID:3146 lipid metabolism disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17426313 20070611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26084578 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28395724 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24648611 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13449 SLITRK2 is_implicated_in DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11908 TNFRSF11A is_implicated_in DOID:0080006 bone development disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10615125 20070205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_implicated_in DOID:0111252 vestibular schwannomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28365909 20220414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53924 NOTCH2NLC is_implicated_in DOID:0081295 essential tremor 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26444 UROC1 is_implicated_in DOID:0112180 urocanase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12020 TPST1 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11817 TIMM8A is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11601506 20170830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11817 TIMM8A is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11405816 20170830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29557 NEXN is_implicated_in DOID:0110424 dilated cardiomyopathy 1CC ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_implicated_in DOID:0070082 schizophrenia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15704228 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_implicated_in DOID:0070082 schizophrenia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16526041 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_implicated_in DOID:0070082 schizophrenia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7941 NPPC is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12452325 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17533396 20110110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12649 VAPB is_implicated_in DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11976 TNXB is_implicated_in DOID:9620 vesicoureteral reflux ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11161 SNRPE is_implicated_in DOID:0110698 hypotrichosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23246290 20160209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:1245 vulva cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15196865 20080410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16172608 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7679 NDRG1 is_implicated_in DOID:0110186 Charcot-Marie-Tooth disease type 4D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180711 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10938 SLC19A2 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10391221 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29203 TBC1D24 is_implicated_in DOID:0050563 nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26371875 20161004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10810 SGK1 is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15304560 20071012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8931 PHKG2 is_implicated_in DOID:2747 glycogen storage disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8896567 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18348 TICAM1 is_implicated_in DOID:936 brain disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11769 TGFB3 is_implicated_in DOID:0070236 Loeys-Dietz syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12015 TPO is_implicated_in DOID:0050328 congenital hypothyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7550241 20070209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7645 NAT1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18258609 20110504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 is_implicated_in DOID:0111970 immunodeficiency 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:4398 pustulosis of palm and sole ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11019918 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15464 SPINK5 is_implicated_in DOID:0050474 Netherton syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11117 SMN1 is_implicated_in DOID:12377 spinal muscular atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7813012 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15888 RTEL1 is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25231748 20220610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9205 PON2 is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16776623 20071004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12338 TRPC6 is_implicated_in DOID:0080379 nephrotic syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21511817 20130716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16035 STRC is_implicated_in DOID:0110471 autosomal recessive nonsyndromic deafness 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11795 THPO is_not_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22686250 20160503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10369255 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210113 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10887 SIX1 is_implicated_in DOID:2154 nephroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25670083 20161114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18756 RHOBTB2 is_implicated_in DOID:0070375 developmental and epileptic encephalopathy 64 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12513 UCHL1 is_implicated_in DOID:0070455 hereditary spastic paraplegia 79A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12437 TXNRD1 is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18996185 20120109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20766 TUBA1A is_implicated_in DOID:11832 visual epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18954413 20170412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28472 TMEM43 is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10631146 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20249 SPRED1 is_implicated_in DOID:0070484 Legius syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10969 SLC22A5 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15107849 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:0110975 brachydactyly type B2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_implicated_in DOID:0110975 brachydactyly type B2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17668388 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:3770 pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21681100 20110725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7849 NME1 is_implicated_in DOID:769 neuroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8047138 20070305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29427 SH3TC2 is_implicated_in DOID:0110183 Charcot-Marie-Tooth disease type 4C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9020 PKLR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12196482 20180216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11283 SRC is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10680 SDHA is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25576295 20210815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10298 RPL10 is_implicated_in DOID:0080241 syndromic X-linked mental retardation 35 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29168 RPGRIP1L is_implicated_in DOID:2975 cystic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17558409 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10004 RGS9 is_implicated_in DOID:0070363 bradyopsia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12587 UQCRFS1 is_implicated_in DOID:0111139 mitochondrial complex III deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25671 RNASEH2B is_implicated_in DOID:0050629 Aicardi-Goutieres syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7907 NPHP3 is_implicated_in DOID:12712 nephronophthisis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17855640 20160929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22503907 20170209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16791 TSEN15 is_implicated_in DOID:0112329 pontocerebellar hypoplasia type 2F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15934099 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11689216 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8905 PGM1 is_implicated_in DOID:3307 teratoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:5259759 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9202 POMT1 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18640039 20160902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:4247 coronary restenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14740296 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18505 RNF43 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22561520 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:11695 portal vein thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27221722 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:11695 portal vein thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25987440 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26894 TPRN is_implicated_in DOID:0110526 autosomal recessive nonsyndromic deafness 79 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7572 MYH2 is_implicated_in DOID:0080719 congenital myopathy 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11982 TOM1 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210908 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7450 MTMR2 is_implicated_in DOID:0110191 Charcot-Marie-Tooth disease type 4B1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9844 RAMP2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15797661 20071008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11042 SLC6A1 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26727527 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10891 SIX5 is_implicated_in DOID:0111424 branchiootorenal syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191106 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23141 TRMT5 is_implicated_in DOID:0111490 combined oxidative phosphorylation deficiency 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:0080176 meningococcal meningitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23691182 20140115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9052 PLAU is_implicated_in DOID:988 mitral valve prolapse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15262029 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1268 TSPEAR is_implicated_in DOID:0110540 autosomal recessive nonsyndromic deafness 98 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13481 UNC93B1 is_implicated_in DOID:936 brain disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:13025 retinopathy of prematurity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18334945 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21943069 20111020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_implicated_in DOID:0111454 SHORT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:1727 retinal vein occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10485556 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40038 PET100 is_implicated_in DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:10223 dermatomyositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22402141 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8743 PCSK1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8666140 20090618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11772 TGFBR1 is_implicated_in DOID:5585 Ferguson-Smith tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11943 TNNC1 is_implicated_in DOID:0110319 hypertrophic cardiomyopathy 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9942 PRPH2 is_implicated_in DOID:14791 Leber congenital amaurosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23847139 20140507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10050 RNASEL is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15330212 20080408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12547 UGT2B17 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181003 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_not_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15466987 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12663 VCAM1 is_implicated_in DOID:77 gastrointestinal system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11361181 20160802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11386 STIM1 is_implicated_in DOID:0060354 Stormorken syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18083 TRPV4 is_implicated_in DOID:0111554 spondylometaphyseal dysplasia Kozlowski type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26230 TM4SF20 is_implicated_in DOID:0060244 specific language impairment ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7961 NR0B2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7961 NR0B2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11136233 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:11758 iron deficiency anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18716131 20160118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8001 NRIP1 is_implicated_in DOID:0080205 CAKUT ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15820084 20101112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_implicated_in DOID:0060074 ductal carcinoma in situ ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17375183 20080722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13797 PRX is_implicated_in DOID:0110193 Charcot-Marie-Tooth disease type 4F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20185 TMEM260 is_implicated_in DOID:0081312 T-cell non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24831772 20230118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10634515 20080331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20422 POLR1D is_implicated_in DOID:0080790 Treacher Collins syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200708 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7897 NPC1 is_implicated_in DOID:0070113 Niemann-Pick disease type C1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8059 NUMA1 is_implicated_in DOID:0060318 acute promyelocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19073 THOC2 is_implicated_in DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28852 SYCE1 is_implicated_in DOID:0070172 spermatogenic failure 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10414 RPS26 is_implicated_in DOID:0111888 Diamond-Blackfan anemia 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5401 SP110 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13818 SLC12A5 is_implicated_in DOID:0080460 developmental and epileptic encephalopathy 34 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10937 SLC19A1 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18797703 20161122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17168 RAB3GAP2 is_implicated_in DOID:0111586 Martsolf syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20087 TTC8 is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14520415 20070503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3098 TOR1A is_implicated_in DOID:0080981 arthrogryposis multiplex congenita-5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200812 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25529925 20230928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11453 SULT1A1 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14688021 20180202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11078 SLC9A5 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10642288 20071217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17089 SYNE1 is_implicated_in DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27086870 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17089 SYNE1 is_implicated_in DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19520069 20120905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17084 SYNE2 is_implicated_in DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21181 SUMO4 is_implicated_in DOID:0110744 type 1 diabetes mellitus 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11181 SOD3 is_implicated_in DOID:8618 oral cavity cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23057317 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24335104 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8912 PHB1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14652295 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:6543 acne ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20861605 20140505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15899948 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17340 PRPF8 is_implicated_in DOID:0110403 retinitis pigmentosa 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10394368 20070420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8607 PRKN is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22429552 20140106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_not_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16399993 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29914 NUP107 is_implicated_in DOID:0080694 Galloway-Mowat syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_implicated_in DOID:0001816 angiosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26440310 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28025427 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20001 PCSK9 is_implicated_in DOID:1390 hypobetalipoproteinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16619215 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26190195 20170215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9996 RGS14 is_implicated_in DOID:585 nephrolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22396660 20180209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23284286 20161208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11272 SPTA1 is_implicated_in DOID:0110918 hereditary spherocytosis type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10817 SGPL1 is_implicated_in DOID:0080265 nephrotic syndrome type 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17859 NUP188 is_implicated_in DOID:0081272 Sandestig-Stefanova syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200318 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9768 RAB28 is_implicated_in DOID:0111024 cone-rod dystrophy 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11605 TBX6 is_implicated_in DOID:0112363 spondylocostal dysostosis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:13025 retinopathy of prematurity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22958044 20140520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9949 RECQL4 is_implicated_in DOID:0050774 rapadilino syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11822 TIMP3 is_implicated_in DOID:0090114 Sorsby's fundus dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17469143 20121205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12338 TRPC6 is_implicated_in DOID:0111129 focal segmental glomerulosclerosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18602432 20101101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10588 SCN2A is_implicated_in DOID:0080421 developmental and epileptic encephalopathy 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6774 SMAD9 is_implicated_in DOID:14557 primary pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10012 RHO is_implicated_in DOID:0110862 congenital stationary night blindness autosomal dominant 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11049 SLC6A3 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12915833 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21500195 20191219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27183918 20191219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17754 THSD1 is_implicated_in DOID:0050580 hereditary lymphedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230215 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 is_implicated_in DOID:0111599 distal arthrogryposis type 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18695058 20170316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8574 PAFAH1B1 is_implicated_in DOID:0112237 lissencephaly 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210331 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:552 pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31683054 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:1561 cognitive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18639367 20081105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10818 SGSH is_implicated_in DOID:12801 mucopolysaccharidosis III ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15902564 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11453 SULT1A1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14688021 20180202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17876529 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15954 TOE1 is_implicated_in DOID:0060276 pontocerebellar hypoplasia type 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1181 MYRF is_implicated_in DOID:9834 hyperopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:36129575 20230322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18635682 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18083 TRPV4 is_implicated_in DOID:0111539 parastremmatic dwarfism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15219383 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16191343 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25186 TMEM240 is_implicated_in DOID:0050972 spinocerebellar ataxia type 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11828 TJP2 is_implicated_in DOID:0014667 disease of metabolism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12704386 20070301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18122 SOX17 is_implicated_in DOID:13832 patent ductus arteriosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33794346 20230614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8784 PDE5A is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20563733 20130815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11079 SLC9A6 is_implicated_in DOID:0060825 Christianson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8824 SERPINF1 is_implicated_in DOID:0110350 osteogenesis imperfecta type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10360 RPL5 is_implicated_in DOID:5603 T-cell acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23263491 20160921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:13258 typhoid fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11120931 20200716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12303 TRIO is_implicated_in DOID:0070074 autosomal dominant intellectual developmental disorder 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 is_implicated_in DOID:4330 non-Langerhans-cell histiocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11179007 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7549 MYBPC1 is_implicated_in DOID:0081348 congenital myopathy 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191016 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29945 TENM4 is_implicated_in DOID:0111432 essential tremor 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11335 SSX1 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23631 NPSR1 is_implicated_in DOID:12716 newborn respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16938805 20110121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3148 TYMP is_implicated_in DOID:890 mitochondrial encephalomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9924029 20070403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9509 PSEN2 is_implicated_in DOID:0110427 dilated cardiomyopathy 1V ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16818622 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7683 NDUFA1 is_implicated_in DOID:0112099 nuclear type mitochondrial complex I deficiency 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21472143 20210515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12362 TSC1 is_implicated_in DOID:3319 lymphangioleiomyomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16974 SRCAP is_implicated_in DOID:0111358 Floating-Harbor syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_not_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15933742 20160916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8522 OTX2 is_implicated_in DOID:9410 panhypopituitarism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10994 SLC26A2 is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17393463 20170823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10024 RLBP1 is_implicated_in DOID:0111015 Newfoundland cone-rod dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12518 UCP2 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10382588 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8744 PCSK2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20036365 20120524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30064 PBRM1 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29748005 20210823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10761 SETDB1 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23055267 20141117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17646 NGLY1 is_implicated_in DOID:0060728 NGLY1-deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:4586 familial meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11123 SMS is_implicated_in DOID:0060802 syndromic X-linked intellectual disability Snyder type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8618 PAX4 is_implicated_in DOID:0111107 maturity-onset diabetes of the young type 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20439 UPF3B is_implicated_in DOID:0060821 syndromic X-linked intellectual disability 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190619 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26223 TEFM is_implicated_in DOID:0060286 combined oxidative phosphorylation deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230802 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10521 SAG is_implicated_in DOID:0110369 retinitis pigmentosa 47 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16636198 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24036105 20140213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12732396 20061120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8823 PECAM1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11795274 20061120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12382 TSPYL1 is_implicated_in DOID:9007 sudden infant death syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15273283 20070212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17174134 20230605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9922 RBP4 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18496666 20230605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0080016 spina bifida ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12797455 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0080016 spina bifida ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10791559 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4061 SLC37A4 is_implicated_in DOID:0050571 congenital disorder of glycosylation type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210929 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11947 TNNI3 is_implicated_in DOID:0111425 restrictive cardiomyopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15274039 20111013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9849 Meniere's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23484733 20131023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14121 POLR3K is_implicated_in DOID:0070407 hypomyelinating leukodystrophy 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210526 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10301 RPL11 is_implicated_in DOID:5603 T-cell acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23377281 20160926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13487 VPS35 is_implicated_in DOID:0060897 Parkinson's disease 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7797 NFKBIA is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23487427 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9969 RFC1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24585533 20240102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25280 ODAD4 is_implicated_in DOID:0110620 primary ciliary dyskinesia 35 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11573 TAT is_implicated_in DOID:9275 tyrosinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1357662 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11179 SOD1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18423055 20090810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8023 NTF3 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9502217 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2468 SMC3 is_implicated_in DOID:0080507 Cornelia de Lange syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7656 NCAM1 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15050861 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11219 SPARC is_implicated_in DOID:0110338 osteogenesis imperfecta type 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25622 TBC1D23 is_implicated_in DOID:0112324 pontocerebellar hypoplasia type 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:3717 gastric adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30554333 20191029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20169003 20101006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:409 liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11389006 20170517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:9282 ocular hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20107173 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30605 SEPSECS is_implicated_in DOID:0060270 pontocerebellar hypoplasia type 2D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8918 PHEX is_implicated_in DOID:0050445 X-linked dominant hypophosphatemic rickets ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8918 PHEX is_implicated_in DOID:0050445 X-linked dominant hypophosphatemic rickets ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7550339 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8918 PHEX is_implicated_in DOID:0050445 X-linked dominant hypophosphatemic rickets ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9106524 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17228 RAD54B is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12563 UMPS is_implicated_in DOID:653 purine-pyrimidine metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9042911 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14927 TSGA10 is_implicated_in DOID:0111924 spermatogenic failure 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12011 TPM2 is_implicated_in DOID:0111597 distal arthrogryposis type 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18156703 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11749 TFDP1 is_implicated_in DOID:0112182 mismatch repair cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:0060704 lymphoproliferative syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16734634 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15946 RP1L1 is_implicated_in DOID:0112145 retinitis pigmentosa 88 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200408 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET is_implicated_in DOID:0050430 multiple endocrine neoplasia type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET is_implicated_in DOID:0050430 multiple endocrine neoplasia type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19719936 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9967 RET is_implicated_in DOID:0050771 pheochromocytoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:34399 UQCC3 is_implicated_in DOID:0080118 mitochondrial complex III deficiency nuclear type 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 is_implicated_in DOID:11714 gestational diabetes ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18984664 20090818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7662 NCF4 is_implicated_in DOID:0070194 autosomal recessive chronic granulomatous disease 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8855 PEX13 is_implicated_in DOID:0080485 peroxisome biogenesis disorder 11A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23368530 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7518 MUC7 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12731 WAS is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7883 NOTCH3 is_implicated_in DOID:0111343 lateral meningocele syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7797617 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8907 PGM3 is_implicated_in DOID:3307 teratoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:5259759 20080818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17209 STK36 is_implicated_in DOID:9562 primary ciliary dyskinesia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210728 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:14115 toxic shock syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15190959 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9080 PLN is_implicated_in DOID:0110439 dilated cardiomyopathy 1P ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31016788 20220407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18764813 20120703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28396 TMEM67 is_implicated_in DOID:0110136 Bardet-Biedl syndrome 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18124 P2RY12 is_implicated_in DOID:6713 cerebrovascular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15933261 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11799 THRB is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18336598 20091218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:0050820 atrioventricular block ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16896344 20170712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:1577 limited scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23755762 20190726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11365 STAT4 is_implicated_in DOID:1577 limited scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19286670 20190726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11178 SOAT2 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16195894 20070531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10718 SELE is_implicated_in DOID:6713 cerebrovascular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16843446 20091002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29130106 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16808 UBR1 is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19006206 20230123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11633 TCF3 is_implicated_in DOID:0081140 agammaglobulinemia 8A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220831 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15634 TLR10 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18547625 20101203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7966 NR1H3 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21903943 20231016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27049563 20170911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30064 PBRM1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210707 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17581627 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9451 PROC is_implicated_in DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180613 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17712558 20120904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21888617 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8487 ORC1 is_implicated_in DOID:0080512 Meier-Gorlin syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11582 TBCE is_implicated_in DOID:0080722 Kenny-Caffey syndrome type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11760 TFPI is_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18695356 20160420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_not_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22787315 20130619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:5295 intestinal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20646002 20111020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9663 aphthous stomatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23665953 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7703 NDUFB8 is_implicated_in DOID:0112080 nuclear type mitochondrial complex I deficiency 32 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20640597 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20232138 20131105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17151 ORC6 is_implicated_in DOID:0080514 Meier-Gorlin syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12687 VHL is_implicated_in DOID:8432 polycythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16210343 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26162 PYROXD1 is_implicated_in DOID:0080308 myofibrillar myopathy 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8095 OAZ1 is_implicated_in DOID:4247 coronary restenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17761941 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7996 NRF1 is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21595933 20171003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4061 SLC37A4 is_implicated_in DOID:0081331 glycogen storage disease Ic ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25617745 20171109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7432 MTHFD1 is_not_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18261183 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23595 VPS13D is_implicated_in DOID:0111611 autosomal recessive spinocerebellar ataxia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12517 UCP1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17635070 20091006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11752 TFE3 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12917640 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14974 SNX10 is_implicated_in DOID:0110940 autosomal recessive osteopetrosis 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH is_implicated_in DOID:0060193 amyotrophic lateral sclerosis type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4551 TECR is_implicated_in DOID:0081188 autosomal recessive intellectual developmental disorder 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22560646 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11226 SPG11 is_implicated_in DOID:0060197 amyotrophic lateral sclerosis type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9024 PKP2 is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15489853 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9024 PKP2 is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16567567 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16725041 20070423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9717 PEX2 is_implicated_in DOID:0080480 peroxisome biogenesis disorder 5A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20670 TWIST2 is_implicated_in DOID:0060549 Barber-Say syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15838728 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22843550 20220128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11459 SULT2B1 is_implicated_in DOID:0080258 autosomal recessive congenital ichthyosis 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18704 NAA10 is_implicated_in DOID:0111799 syndromic microphthalmia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19130296 20110412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9040 PLA2G7 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15115767 20120502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21042 NUS1 is_implicated_in DOID:0080227 autosomal dominant intellectual developmental disorder 55 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:0110112 atrial heart septal defect 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10254 ROM1 is_implicated_in DOID:0110383 retinitis pigmentosa 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8846 PER2 is_implicated_in DOID:0050628 advanced sleep phase syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11232563 20070308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7905 NPHP1 is_implicated_in DOID:0050576 Senior-Loken syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8754 PCYT1A is_implicated_in DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14377 NHP2 is_implicated_in DOID:0070017 autosomal recessive dyskeratosis congenita 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11825 NKX2-1 is_implicated_in DOID:12859 choreatic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16220345 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11825 NKX2-1 is_implicated_in DOID:12859 choreatic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:34016 RNU4ATAC is_implicated_in DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10681 SDHB is_implicated_in DOID:0060537 mitochondrial complex II deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210324 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9863 RAPSN is_implicated_in DOID:0111378 fetal akinesia deformation sequence syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190501 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_not_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21586524 20140106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:0060867 macrocephaly-autism syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15805158 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:0060867 macrocephaly-autism syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23230 UBA5 is_implicated_in DOID:0080424 developmental and epileptic encephalopathy 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11727 TERC is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14614009 20080407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12815949 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16855181 20070514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9380 PRKACA is_implicated_in DOID:0060280 primary pigmented nodular adrenocortical disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17296 RRM2B is_implicated_in DOID:0070331 mitochondrial DNA depletion syndrome 8b ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190515 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9031 PLA2G2A is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12712 VPS33B is_implicated_in DOID:0080954 arthrogryposis multiplex congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15052268 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11167 SNTA1 is_implicated_in DOID:0110653 long QT syndrome 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10537 SARS1 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28236339 20210210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7957 NPY2R is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24121255 20151203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19139 POMGNT1 is_implicated_in DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20064547 20120823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7675 NDN is_implicated_in DOID:11983 Prader-Willi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9630521 20070423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7549 MYBPC1 is_implicated_in DOID:0060654 lethal congenital contracture syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10500 S100B is_implicated_in DOID:13564 aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22114731 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:3969 thyroid gland papillary carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19286843 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:11713 diabetic angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190410 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19129 PSAT1 is_implicated_in DOID:0050723 PSAT deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:8692 myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23609856 20160209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30220 RFT1 is_implicated_in DOID:0080566 congenital disorder of glycosylation In ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24219 POLR1G is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17131345 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12139735 20161013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18253 PARL is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20407791 20170509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11106718 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 is_implicated_in DOID:0080130 mitochondrial DNA depletion syndrome 12a ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9179 POLG is_implicated_in DOID:890 mitochondrial encephalomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12825077 20140728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7871 NONO is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26571461 20230213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7871 NONO is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:36653413 20230213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_implicated_in DOID:3082 interstitial lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:11151 cholecystolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18392554 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9679 PTPRQ is_implicated_in DOID:0080269 autosomal dominant nonsyndromic deafness 73 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8957 PIGA is_implicated_in DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29955 SLC51A is_implicated_in DOID:0070221 progressive familial intrahepatic cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210825 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 is_implicated_in DOID:0110426 dilated cardiomyopathy 1D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10981549 20140102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8850 PEX1 is_implicated_in DOID:0080623 Heimler syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 is_implicated_in DOID:0060227 Adams-Oliver syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12215093 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12469 UBA1 is_implicated_in DOID:0080828 VEXAS syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9325 PPT1 is_implicated_in DOID:0110721 neuronal ceroid lipofuscinosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9237 PPARGC1A is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18162502 20130321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:12732 intermediate uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23378732 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7983 NR5A1 is_implicated_in DOID:905 Zellweger syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16141001 20170620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25792 USB1 is_implicated_in DOID:0060551 poikiloderma with neutropenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18084 TRPV3 is_implicated_in DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20373 SPG21 is_implicated_in DOID:0060245 Mast syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29304 UVSSA is_implicated_in DOID:0060240 UV-sensitive syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31928 NBEAL2 is_implicated_in DOID:0111044 gray platelet syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:37659266 20231009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10344 RPL35 is_implicated_in DOID:0111886 Diamond-Blackfan anemia 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14611903 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:11265 trachoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17330135 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8800 PDGFB is_implicated_in DOID:0060230 basal ganglia calcification ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11453 SULT1A1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14643027 20080924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8926 PHKA2 is_implicated_in DOID:2747 glycogen storage disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7711737 20070418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7907 NPHP3 is_implicated_in DOID:0060259 renal-hepatic-pancreatic dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21635773 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7737 NEFH is_implicated_in DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9141 PMVK is_implicated_in DOID:3805 porokeratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:670 amphetamine abuse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16529859 20231019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11510 SYT2 is_implicated_in DOID:3635 congenital myasthenic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211027 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 is_implicated_in DOID:0110042 Alzheimer's disease 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9279 PDP1 is_implicated_in DOID:3649 pyruvate decarboxylase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:0111162 epidermal nevus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9666 PTPRC is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220720 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:686 RHOH is_implicated_in DOID:13777 epidermodysplasia verruciformis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19139 POMGNT1 is_implicated_in DOID:0050453 lissencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17559086 20160916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7579 MYH9 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10973259 20070314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_implicated_in DOID:10603 glucose intolerance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15277395 20070517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25156 SGF29 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21441570 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11653 TCN2 is_implicated_in DOID:0050818 transcobalamin II deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11947 TNNI3 is_implicated_in DOID:0110460 dilated cardiomyopathy 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:4440 seminoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10706106 20080822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23276910 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9205 PON2 is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16822964 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:0060496 respiratory allergy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21704886 20140117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7960 NR0B1 is_implicated_in DOID:0111777 46,XY sex reversal 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 is_implicated_in DOID:11981 morbid obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16702999 20070713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30521 SLC46A1 is_implicated_in DOID:0111678 hereditary folate malabsorption ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16043164 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9205 PON2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11803456 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9205 PON2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16319130 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:1984 rectal benign neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20622004 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:552 pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25367052 20190521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:2596 larynx cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20223031 20110502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13831 WDR11 is_implicated_in DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19035314 20190716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15632890 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10600 SCNN1B is_implicated_in DOID:4479 pseudohypoaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8589714 20221214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10600 SCNN1B is_implicated_in DOID:4479 pseudohypoaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12472 UBE2A is_implicated_in DOID:0060820 syndromic X-linked intellectual disability Nascimento type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2135 SBF2 is_implicated_in DOID:0110190 Charcot-Marie-Tooth disease type 4B2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11111 SMC1A is_implicated_in DOID:0080506 Cornelia de Lange syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20347 VIPAS39 is_implicated_in DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190918 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15557444 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15226658 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11904 TNFRSF10A is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21472143 20210517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26053 THG1L is_implicated_in DOID:0070409 autosomal recessive spinocerebellar ataxia 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200401 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30765 TNIK is_implicated_in DOID:0081216 autosomal recessive intellectual developmental disorder 54 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26197 TOP6BL is_implicated_in DOID:3590 gestational trophoblastic neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190619 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6769 SMAD3 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772397 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7708 NDUFS2 is_implicated_in DOID:3652 Leigh disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20819849 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23066086 20160218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30227 SPPL2A is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211020 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12938026 20111123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8818 SLC26A4 is_implicated_in DOID:12176 goiter ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12974744 20070119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29022 SPECC1L is_implicated_in DOID:0080698 Teebi hypertelorism syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18552399 20231109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7432 MTHFD1 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25129243 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1546 SERPINH1 is_implicated_in DOID:0110346 osteogenesis imperfecta type 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6772 SMAD6 is_implicated_in DOID:0080334 aortic valve disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9118 PMP22 is_implicated_in DOID:0050540 Charcot-Marie-Tooth disease type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180425 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23281898 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19419896 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7881 NOTCH1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31813956 20221111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27561 TSEN54 is_implicated_in DOID:0060267 pontocerebellar hypoplasia type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10729 SEMA4A is_implicated_in DOID:0111017 cone-rod dystrophy 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8565 PABPN1 is_implicated_in DOID:11719 oculopharyngeal muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14551602 20120521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12527 UGP2 is_implicated_in DOID:0112218 developmental and epileptic encephalopathy 83 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9824 RAD52 is_implicated_in DOID:4531 mucoepidermoid carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26035306 20220302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:2799 bronchiolitis obliterans ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18158963 20110427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 is_implicated_in DOID:0080285 developmental and epileptic encephalopathy 58 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15573 SETBP1 is_implicated_in DOID:0070059 autosomal dominant intellectual developmental disorder 29 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10808 SGCE is_implicated_in DOID:0090034 myoclonic dystonia 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220629 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21309754 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15894 PANK2 is_implicated_in DOID:3981 pantothenate kinase-associated neurodegeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11006 SLC2A2 is_implicated_in DOID:1062 Fanconi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9606 PTH is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22777106 20130418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17142 OPTN is_not_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16020311 20120327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7573 MYH3 is_implicated_in DOID:0111605 distal arthrogryposis type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200205 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24624 SIL1 is_implicated_in DOID:9277 primary cerebellar degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12016 TPP2 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210324 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:40045 PET117 is_implicated_in DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9359 SLC26A5 is_implicated_in DOID:0110513 autosomal recessive nonsyndromic deafness 61 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26788504 20180212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9287 PPP1R1B is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23295814 20180402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8548 P4HB is_implicated_in DOID:0060438 Cole-Carpenter syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10249 ROBO1 is_implicated_in DOID:9649 congenital nystagmus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:0060584 Noonan syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12712 VPS33B is_implicated_in DOID:557 kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15052268 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15446 PRPF31 is_implicated_in DOID:0110408 retinitis pigmentosa 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22976839 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7530 MVK is_implicated_in DOID:0050452 mevalonic aciduria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB is_implicated_in DOID:0080109 infantile myofibromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18884 TDP1 is_implicated_in DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_implicated_in DOID:2871 endometrial carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23636398 20180620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:678 progressive supranuclear palsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22424094 20140423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16491 PIDD1 is_implicated_in DOID:0081234 autosomal recessive intellectual developmental disorder 75 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13398 NSDHL is_implicated_in DOID:0111822 CHILD syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7717 NDUFV2 is_implicated_in DOID:0112092 nuclear type mitochondrial complex I deficiency 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7432 MTHFD1 is_implicated_in DOID:0080016 spina bifida ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9611072 20070302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8984 PI4KB is_implicated_in DOID:0050564 autosomal dominant nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8016 NSF is_implicated_in DOID:0070377 developmental and epileptic encephalopathy 96 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210616 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14409 SLC25A19 is_implicated_in DOID:10907 microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12185364 20070507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 is_implicated_in DOID:585 nephrolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22396660 20130426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7680 NDST1 is_implicated_in DOID:0081210 autosomal recessive intellectual developmental disorder 46 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7997 NRG1 is_not_implicated_in DOID:2468 psychotic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20182055 20151211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17156840 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7782 NFE2L2 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31586142 20210305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25964 RETREG1 is_implicated_in DOID:0070150 hereditary sensory and autonomic neuropathy type 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19212205 20180102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13879 MYO1H is_implicated_in DOID:0060731 congenital central hypoventilation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211020 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26034 SDHAF2 is_implicated_in DOID:0050773 paraganglioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9921 RBP3 is_implicated_in DOID:0110393 retinitis pigmentosa 66 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13486 USP27X is_implicated_in DOID:0112036 non-syndromic X-linked intellectual disability 105 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9898 RBM12 is_implicated_in DOID:0080281 schizophrenia 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17358 TPK1 is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11521 TAC3 is_implicated_in DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1908 VPS13A is_implicated_in DOID:0050766 choreaacanthocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180725 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10801 SFTPB is_implicated_in DOID:3082 interstitial lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18263595 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26336112 20160216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20194 POLR1C is_implicated_in DOID:0080791 Treacher Collins syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20087 TTC8 is_implicated_in DOID:0110398 retinitis pigmentosa 51 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10994 SLC26A2 is_implicated_in DOID:0050581 brachydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21155763 20170823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11368 STAT6 is_implicated_in DOID:1394 urinary schistosomiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18273035 20130521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19748964 20140206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24496 NEPRO is_implicated_in DOID:0080963 anauxetic dysplasia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15870 RAB5IF is_implicated_in DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220810 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29203 TBC1D24 is_implicated_in DOID:0080449 developmental and epileptic encephalopathy 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9541 PSMB4 is_implicated_in DOID:0060916 proteasome-associated autoinflammatory syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11503 SYNJ1 is_implicated_in DOID:0080464 developmental and epileptic encephalopathy 53 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12949 VEZF1 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8857 PEX16 is_implicated_in DOID:0080377 peroxisomal biogenesis disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31309790 20231009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9477 PRSS12 is_implicated_in DOID:0081177 autosomal recessive intellectual developmental disorder 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7957 NPY2R is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17019604 20070913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11762 TFR2 is_implicated_in DOID:2352 hemochromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10802645 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8086 OAS1 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220713 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26270 PIEZO2 is_implicated_in DOID:0111607 distal arthrogryposis type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28395 SGMS2 is_implicated_in DOID:0080721 calvarial doughnut lesions with bone fragility ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190731 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29361 SELENOI is_implicated_in DOID:0112349 hereditary spastic paraplegia 81 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17995 TRPM6 is_implicated_in DOID:896 metal metabolism disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12032568 20070212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18647 RTN4IP1 is_implicated_in DOID:0111434 optic atrophy 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12441 TYMS is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25007187 20160520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11916 TNFRSF1A is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25311255 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10802 SFTPC is_implicated_in DOID:9675 pulmonary emphysema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18038590 20101005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11842 TLK2 is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14025 SLC5A7 is_implicated_in DOID:0111201 obsolete distal hereditary motor neuronopathy type 7A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:0060181 ischemic colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25656775 20170811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11795 THPO is_implicated_in DOID:2228 thrombocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9694695 20070427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:0080822 aspirin-induced respiratory disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21796142 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33867 SDHAF1 is_implicated_in DOID:0060537 mitochondrial complex II deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210203 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9678 PTPRO is_implicated_in DOID:0080384 nephrotic syndrome type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28583 RSPO2 is_implicated_in DOID:0112193 tetraamelia syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190605 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11102 SMARCAL1 is_implicated_in DOID:0060490 Schimke immuno-osseous dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11102 SMARCAL1 is_implicated_in DOID:0060490 Schimke immuno-osseous dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11799392 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18613291 20090805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7702 NDUFB7 is_implicated_in DOID:0112065 nuclear type mitochondrial complex I deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7707 NDUFS1 is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11349233 20070315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16261 SLC22A9 is_implicated_in DOID:0112182 mismatch repair cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29203 TBC1D24 is_implicated_in DOID:0111627 DOORS syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8140 OPA1 is_implicated_in DOID:0080336 mitochondrial DNA depletion syndrome 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:1614 male breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22331715 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17382 SRGAP1 is_implicated_in DOID:3969 thyroid gland papillary carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26024592 20200213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15888 RTEL1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28360516 20220608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10941 SLC1A3 is_implicated_in DOID:0050994 episodic ataxia type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7710 NDUFS3 is_implicated_in DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10313 RPL21 is_implicated_in DOID:0110709 hypotrichosis 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11948 TNNT1 is_implicated_in DOID:0081374 nemaline myopathy 5B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230705 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23631 NPSR1 is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17854592 20110121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10969 SLC22A5 is_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15487009 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20670 TWIST2 is_implicated_in DOID:0060550 ablepharon macrostomia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11285 SRD5A2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10501358 20110121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 is_implicated_in DOID:397 restrictive cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16651346 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8881 PFN1 is_implicated_in DOID:0060209 amyotrophic lateral sclerosis type 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10274 RP2 is_implicated_in DOID:0110415 retinitis pigmentosa 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:3450 cutaneous Paget's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22522847 20190530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9407 PRKD1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27479907 20230424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9407 PRKD1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33919081 20230424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14234 NSD1 is_implicated_in DOID:769 neuroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20018718 20141114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21068401 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11226 SPG11 is_implicated_in DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20185 TMEM260 is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24831772 20230118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26168399 20220127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10471 RUNX1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30666517 20210406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23663 VKORC1 is_implicated_in DOID:0080665 warfarin resistance ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:4511 breast angiosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32123305 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25198 SLC25A46 is_implicated_in DOID:0112330 pontocerebellar hypoplasia type 1E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210526 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14006 TRPV6 is_implicated_in DOID:13543 hyperparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10582 SCN10A is_implicated_in DOID:0111730 familial episodic pain syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25774 TCTN2 is_implicated_in DOID:0070122 Meckel syndrome 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9585 PTCH1 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21889114 20211129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23685257 20131023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9291 PPP1R3A is_implicated_in DOID:9993 hypoglycemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9814479 20070423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2073 TPP1 is_implicated_in DOID:0110726 neuronal ceroid lipofuscinosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19141860 20170920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12363 TSC2 is_implicated_in DOID:0050902 medulloblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11603814 20161209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12338 TRPC6 is_implicated_in DOID:8544 chronic fatigue syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27834303 20201203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21908957 20130619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11598 TBX20 is_implicated_in DOID:0110109 atrial heart septal defect 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17089 SYNE1 is_implicated_in DOID:0050753 cerebellar ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17503513 20170828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11825 NKX2-1 is_implicated_in DOID:3969 thyroid gland papillary carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16008671 20110429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18635682 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7978 NR3C1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12623935 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20941748 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25566 SETD5 is_implicated_in DOID:0070053 autosomal dominant intellectual developmental disorder 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9376 PRKAA1 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20622004 20120622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20297 SLITRK1 is_implicated_in DOID:0050587 trichotillomania ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8967 PIGN is_implicated_in DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7955 NPY is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14757324 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15732116 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11761 TFPI2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22052167 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11503 SYNJ1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25639775 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10982 SLC25A12 is_implicated_in DOID:0050432 Asperger syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24679184 20180621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:11713 diabetic angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9844142 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10660 SDC3 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9871 RASA1 is_implicated_in DOID:11294 arteriovenous malformation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15917201 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9154 PNKP is_implicated_in DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9009 PKD2 is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12842373 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12423 TULP1 is_implicated_in DOID:0110189 Leber congenital amaurosis 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7562 MYD88 is_implicated_in DOID:0060901 lymphoplasmacytic lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12729 WARS1 is_implicated_in DOID:0111212 autosomal dominant distal hereditary motor neuronopathy 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9668 PTPRD is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27281273 20231024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9016 PKHD1 is_implicated_in DOID:0080212 polycystic kidney disease 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180523 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11491 SYK is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210707 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13872 RIPOR2 is_implicated_in DOID:0110551 autosomal dominant nonsyndromic deafness 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14378 NOP10 is_implicated_in DOID:0070015 autosomal recessive dyskeratosis congenita 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8923 PHGDH is_implicated_in DOID:9252 amino acid metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11055895 20070308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9588 PTEN is_implicated_in DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15557444 20131231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28213 PIGY is_implicated_in DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11805 TIAM1 is_implicated_in DOID:0070444 neurodevelopmental disorder with language delay and seizures ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221116 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12335 TRPC3 is_implicated_in DOID:0111744 cerebellar ataxia type 41 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10937 SLC19A1 is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27198213 20210218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7582 MYL1 is_implicated_in DOID:0081346 congenital myopathy 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190529 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_implicated_in DOID:4247 coronary restenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17786284 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10720 SELL is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22119815 20121130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25941 TET2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32554069 20210916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4838 SERPIND1 is_implicated_in DOID:0050117 disease by infectious agent ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12361205 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8910 PGR is_not_implicated_in DOID:127 leiomyoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15807882 20070412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_not_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25007268 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7532 MX1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23438650 20210407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17440948 20151203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18998137 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8153 OPRD1 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28692418 20231010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_implicated_in DOID:0060037 developmental disorder of mental health ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9180 POLG2 is_implicated_in DOID:0070446 mitochondrial DNA depletion syndrome 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190904 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:1882 atrial heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21188375 20170713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:1882 atrial heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25742962 20170713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_not_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12632020 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30831 TDRD7 is_implicated_in DOID:0110247 cataract 36 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11909 TNFRSF11B is_implicated_in DOID:0081368 Paget's disease of bone 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2874 NQO1 is_not_implicated_in DOID:1240 leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15382274 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8979 PIK3R1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14551916 20180216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17649 POPDC3 is_implicated_in DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200429 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18001 TOMM40 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26171154 20171221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18072 RABL3 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191211 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11948 TNNT1 is_implicated_in DOID:0081375 nemaline myopathy 5C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230705 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16987073 20160105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11998 TP53 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28789369 20191031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21054 RSPH3 is_implicated_in DOID:0110603 primary ciliary dyskinesia 32 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11073 SLC9A3 is_implicated_in DOID:0060777 congenital secretory sodium diarrhea 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11920155 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:8029 sporadic breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28330681 20200814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9039 PLA2G6 is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21368765 20120430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11180 SOD2 is_implicated_in DOID:11713 diabetic angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26267 POMK is_implicated_in DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19139 POMGNT1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7583 MYL2 is_implicated_in DOID:0110316 hypertrophic cardiomyopathy 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21246 PNPLA1 is_implicated_in DOID:0060719 autosomal recessive congenital ichthyosis 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11847 TLR1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18091991 20130621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14938 PIGT is_implicated_in DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9679 PTPRQ is_implicated_in DOID:0110529 autosomal recessive nonsyndromic deafness 84A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_implicated_in DOID:3565 meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22038540 20230116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10294 RPE65 is_implicated_in DOID:0110353 retinitis pigmentosa 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:9008 psoriatic arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21410964 20120626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18253 PARL is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18758826 20170509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18666 RNPC3 is_implicated_in DOID:9410 panhypopituitarism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18084 TRPV3 is_implicated_in DOID:0050534 congenital stationary night blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19878917 20121211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_implicated_in DOID:0070466 carpal tunnel syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210120 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A is_implicated_in DOID:0080422 Dravet syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180228 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12373 TSHR is_implicated_in DOID:0081101 nonautoimmune hyperthyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18306976 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26186 TMEM53 is_implicated_in DOID:0112340 craniotubular dysplasia Ikegawa type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220309 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11946 TNNI2 is_implicated_in DOID:0111600 distal arthrogryposis type 2B1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7818 NHLH2 is_implicated_in DOID:0090070 hypogonadotropic hypogonadism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221221 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180711 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25204082 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8590 PAK1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17486065 20080813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10402 RPS19 is_implicated_in DOID:0111895 Diamond-Blackfan anemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180606 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12718 VRK1 is_implicated_in DOID:0060265 pontocerebellar hypoplasia type 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13872 RIPOR2 is_implicated_in DOID:0110465 autosomal recessive nonsyndromic deafness 104 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11195 SOX2 is_implicated_in DOID:10811 nasal cavity cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23544055 20140611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12511 UBTF is_implicated_in DOID:0070474 childhood-onset neurodegeneration with brain atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10682 SDHC is_implicated_in DOID:0050773 paraganglioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11062460 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10682 SDHC is_implicated_in DOID:0050773 paraganglioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:0060075 estrogen-receptor positive breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28881720 20190530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20766 TUBA1A is_implicated_in DOID:10907 microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18728072 20170413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11117 SMN1 is_implicated_in DOID:12376 juvenile spinal muscular atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10473 RUNX3 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16230397 20081230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27960 SLC6A19 is_implicated_in DOID:1060 Hartnup disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21157294 20120504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9454 PROM1 is_implicated_in DOID:0070438 retinal macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16901 SPEG is_implicated_in DOID:0111222 centronuclear myopathy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11557 TAL2 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5331 NOD2 is_implicated_in DOID:417 autoimmune disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20646002 20111020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20502 SLC39A5 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10061 RNF2 is_implicated_in DOID:0070416 Luo-Schoch-Yamamoto syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211027 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7940 NPPB is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17554401 20070907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12371 RSPH1 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23215 PIGO is_implicated_in DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16380 TRIM32 is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16606853 20070502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6768 SMAD2 is_implicated_in DOID:0050466 Loeys-Dietz syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7632 NAGLU is_implicated_in DOID:0111394 mucopolysaccharidosis type IIIB ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191106 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23034014 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11118 SMN2 is_implicated_in DOID:12376 juvenile spinal muscular atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9360 PRF1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20921521 20120504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8599 PANX1 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12642 VAMP1 is_implicated_in DOID:3635 congenital myasthenic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22034108 20120521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16243 MYLK2 is_implicated_in DOID:0110307 hypertrophic cardiomyopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8923 PHGDH is_implicated_in DOID:0080076 Neu-Laxova syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11896 TNFAIP3 is_implicated_in DOID:0080944 familial Behcet-like autoinflammatory syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21350 PDHX is_implicated_in DOID:1115 sarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31089155 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29203 TBC1D24 is_implicated_in DOID:11832 visual epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20797691 20161004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11356 STAG3 is_implicated_in DOID:0112350 spermatogenic failure 61 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211222 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11784 THBD is_implicated_in DOID:0111908 thrombophilia due to thrombomodulin defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12530118 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30952761 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8975 PIK3CA is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9205 PON2 is_implicated_in DOID:8725 vascular dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11803456 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9210 POU1F1 is_implicated_in DOID:53 pituitary gland disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1302000 20070420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10985 SLC25A15 is_implicated_in DOID:0050720 ornithine translocase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9142 PRRX1 is_implicated_in DOID:0060341 agnathia-otocephaly complex ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8941 SERPINA1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24122823 20190702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12371 RSPH1 is_implicated_in DOID:0110628 primary ciliary dyskinesia 24 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9884 RB1 is_implicated_in DOID:3181 oligodendroglioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15970925 20180817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12399 MYOT is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10958653 20070212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9461 PRPH is_implicated_in DOID:0060193 amyotrophic lateral sclerosis type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10990 SLC25A4 is_implicated_in DOID:0080335 mitochondrial DNA depletion syndrome 12b ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29255 USP53 is_implicated_in DOID:0070221 progressive familial intrahepatic cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211222 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10327 RPL26 is_implicated_in DOID:0111892 Diamond-Blackfan anemia 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7989 NRAS is_implicated_in DOID:0111530 linear nevus sebaceous syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19135114 20090819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11848 TLR2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23142523 20130212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12442 TYR is_implicated_in DOID:10123 pigmentation disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30074 POLR3A is_implicated_in DOID:0081333 Wiedemann-Rautenstrauch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190612 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21237 UQCC2 is_implicated_in DOID:0080116 mitochondrial complex III deficiency nuclear type 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_implicated_in DOID:848 arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16461442 20150723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12520 UFD1 is_implicated_in DOID:11198 DiGeorge syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10024240 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_not_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16464986 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20423 SPATA7 is_implicated_in DOID:0110331 Leber congenital amaurosis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17652 PORCN is_implicated_in DOID:2120 focal dermal hypoplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8783 PDE4D is_implicated_in DOID:14669 acrodysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11740 TF is_implicated_in DOID:4195 hyperglycemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16936158 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21057 RSPH9 is_implicated_in DOID:0110601 primary ciliary dyskinesia 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9966 REST is_implicated_in DOID:2154 nephroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9896 RBM10 is_implicated_in DOID:0111780 TARP syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190410 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19380 RNU12 is_implicated_in DOID:0070414 autosomal recessive spinocerebellar ataxia 33 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230208 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7610 MYOC is_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12860809 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7606 MYO7A is_implicated_in DOID:0110826 Usher syndrome type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15592175 20140725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22215203 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9071 PLG is_implicated_in DOID:6195 conjunctivitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9242524 20070419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11109 SMARCE1 is_implicated_in DOID:0112368 Coffin-Siris syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11769 TGFB3 is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7951245 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10536 SARDH is_implicated_in DOID:0112307 sarcosinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18253 PARL is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18846214 20170509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:445 SETX is_implicated_in DOID:0060196 amyotrophic lateral sclerosis type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10586 SCN1B is_implicated_in DOID:0111302 generalized epilepsy with febrile seizures plus 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9069 PLEC is_implicated_in DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29433 NEXMIF is_implicated_in DOID:0112044 non-syndromic X-linked intellectual disability 98 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10524 SALL1 is_implicated_in DOID:0050887 Townes-Brocks syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:11713 diabetic angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17949258 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12593 USF1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16186412 20091015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21686 RNASET2 is_implicated_in DOID:0112182 mismatch repair cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:4398 pustulosis of palm and sole ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12691703 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18592 NEK10 is_implicated_in DOID:0111851 primary ciliary dyskinesia 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200318 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11771 TGFBI is_implicated_in DOID:2566 corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9054935 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8931 PHKG2 is_implicated_in DOID:0111043 glycogen storage disease IXc ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16859 NOS1AP is_implicated_in DOID:0112268 nephrotic syndrome type 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210203 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12450 TYRP1 is_implicated_in DOID:10123 pigmentation disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7744 NEK1 is_implicated_in DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8977 PIK3CD is_implicated_in DOID:0111936 immunodeficiency 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12649 VAPB is_implicated_in DOID:0050752 amyotrophic lateral sclerosis type 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10853 SHOX is_implicated_in DOID:0112120 SHOX-related short stature ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16411107 20140217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8064 NUP214 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11763 TFRC is_implicated_in DOID:0111948 immunodeficiency 46 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17485 PPP2R3C is_implicated_in DOID:0111921 spermatogenic failure 36 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190529 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18746 SLURP1 is_implicated_in DOID:0060862 mal de Meleda ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9820 RAD51C is_implicated_in DOID:0111096 Fanconi anemia complementation group O ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25187 TAMM41 is_implicated_in DOID:0070429 combined oxidative phosphorylation deficiency 56 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:1580 diffuse scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16112028 20120424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7432 MTHFD1 is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18635682 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12187094 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10019 RIPK1 is_implicated_in DOID:0111952 immunodeficiency 57 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190410 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11236836 20200804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9955 RELA is_implicated_in DOID:0060058 lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9047386 20080731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7856 NQO2 is_implicated_in DOID:3459 breast carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21351093 20160503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9644 PTPN11 is_implicated_in DOID:3490 Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11992261 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10457 RS1 is_implicated_in DOID:0060763 X-linked juvenile retinoschisis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180307 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7884 NOTCH4 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21779181 20120402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25987440 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11949 TNNT2 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11684629 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16713399 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:12662 paracoccidioidomycosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17145373 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9801 RAC1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27299748 20220921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27729 RNF212 is_implicated_in DOID:0112351 spermatogenic failure 62 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211222 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30348 POLR3B is_implicated_in DOID:0060797 hypomyelinating leukodystrophy 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17089 SYNE1 is_implicated_in DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180711 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9177 POLE is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32433714 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17089 SYNE1 is_implicated_in DOID:0080979 arthrogryposis multiplex congenita-3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190814 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9005 PITX2 is_implicated_in DOID:0080609 anterior segment dysgenesis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8760 PDCD1 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25747035 20201112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11535 TAF1 is_implicated_in DOID:0090057 X-linked dystonia-parkinsonism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11847 TLR1 is_implicated_in DOID:13564 aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16461792 20101203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8983 PI4KA is_implicated_in DOID:0112347 hereditary spastic paraplegia 84 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18658 NUP205 is_implicated_in DOID:0080381 nephrotic syndrome type 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18590 PNPLA3 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21319195 20191008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7820 NHS is_implicated_in DOID:0110272 cataract 40 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2567 OFD1 is_implicated_in DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7745 NEK2 is_implicated_in DOID:0110359 retinitis pigmentosa 67 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11100 SMARCA4 is_implicated_in DOID:3672 rhabdoid cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25640 UFSP2 is_implicated_in DOID:0070392 developmental and epileptic encephalopathy 106 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220921 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11782 TH is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16139102 20070426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11773 TGFBR2 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15235604 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:13774 Addison's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18301444 20120622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23246 MYPN is_implicated_in DOID:0110445 dilated cardiomyopathy 1KK ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23068 TRAPPC2 is_implicated_in DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181219 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20330 POMP is_implicated_in DOID:0060914 proteosome-associated autoinflammatory syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29242 SH3PXD2B is_implicated_in DOID:0111789 Frank-Ter Haar syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 is_implicated_in DOID:0080758 Fanconi renotubular syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16637266 20080924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9816 RAD50 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16288216 20080909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29105 PLEKHG5 is_implicated_in DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_implicated_in DOID:0111104 maturity-onset diabetes of the young type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18539 STX1B is_implicated_in DOID:0111301 generalized epilepsy with febrile seizures plus 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10604 SCO2 is_implicated_in DOID:3762 cytochrome-c oxidase deficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10749987 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10798 SFTPA1 is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16429424 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11943 TNNC1 is_implicated_in DOID:0110434 dilated cardiomyopathy 1Z ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25535 TMEM38B is_implicated_in DOID:0110343 osteogenesis imperfecta type 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:4677 keratitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24074256 20140110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29326 SLC7A14 is_implicated_in DOID:0110374 retinitis pigmentosa 68 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7516 MUC5B is_implicated_in DOID:2942 bronchiolitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15709052 20110422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:9663 aphthous stomatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27266194 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18017 NUP160 is_implicated_in DOID:0080394 nephrotic syndrome type 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_not_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16737574 20100604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12340 TRPS1 is_implicated_in DOID:14743 trichorhinophalangeal syndrome type I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9024 PKP2 is_implicated_in DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_implicated_in DOID:0111818 syndactyly type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18417549 20170329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19366 PANK4 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:2987 familial mediterranean fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22736074 20170728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15804 OVOL2 is_implicated_in DOID:0110855 posterior polymorphous corneal dystrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7553 MYC is_implicated_in DOID:3213 demyelinating disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22076651 20130219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9456 PROS1 is_not_implicated_in DOID:2451 protein S deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22261441 20160615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11094 SNAI2 is_implicated_in DOID:3263 piebaldism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12444107 20070226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12530 UGT1A1 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18349273 20091222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11005 SLC2A1 is_implicated_in DOID:0111313 idiopathic generalized epilepsy 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231108 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23700 TTC12 is_implicated_in DOID:0111857 primary ciliary dyskinesia 45 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200318 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16369 PARK7 is_implicated_in DOID:0060370 Parkinson's disease 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:0112206 developmental and epileptic encephalopathy 70 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8952 SERPINB8 is_implicated_in DOID:0060283 peeling skin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20318 SMOC1 is_implicated_in DOID:0060861 microphthalmia with limb anomalies ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1421 SLC25A20 is_implicated_in DOID:0111585 carnitine-acylcarnitine translocase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:0080784 urinary tract infection ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19543401 20130621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11453 SULT1A1 is_implicated_in DOID:0060072 benign neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16402077 20180202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8154 OPRK1 is_not_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24035285 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8910 PGR is_implicated_in DOID:289 endometriosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16126772 20070412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30972 SECISBP2 is_implicated_in DOID:50 thyroid gland disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8125 OGG1 is_implicated_in DOID:9669 senile cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24868140 20150924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11453 SULT1A1 is_not_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18368507 20080924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7945 NPR3 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12872042 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9204 PON1 is_implicated_in DOID:14400 capillary leak syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24808988 20161013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9217 POU3F4 is_implicated_in DOID:0111737 X-linked deafness 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11969 TNRC6A is_implicated_in DOID:0111696 familial adult myoclonic epilepsy 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11200 SOX4 is_implicated_in DOID:0112371 Coffin-Siris syndrome 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190731 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9761785 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11831 TK2 is_implicated_in DOID:0080120 mitochondrial DNA depletion syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11276 SPTBN2 is_implicated_in DOID:0080058 autosomal recessive spinocerebellar ataxia 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:2154 nephroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19346876 20120906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11140 SNCB is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17556099 20120312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1983 UTP4 is_implicated_in DOID:13580 cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12417987 20070322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21876 RINT1 is_implicated_in DOID:0080716 infantile liver failure syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11285 SRD5A2 is_implicated_in DOID:10892 hypospadias ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10514539 20070226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9006 PITX3 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15665340 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9652 PTPN22 is_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23946333 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10979 SLC25A1 is_implicated_in DOID:3635 congenital myasthenic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:10322 berylliosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17785866 20101029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16543493 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10591 SCN4A is_implicated_in DOID:0081354 congenital myopathy 22A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230517 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_implicated_in DOID:2987 familial mediterranean fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19445990 20140108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29185 PLCH1 is_implicated_in DOID:4621 holoprosencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14906 NIN is_implicated_in DOID:0070011 Seckel syndrome 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18973068 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8931 PHKG2 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9384616 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11947 TNNI3 is_implicated_in DOID:397 restrictive cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16288990 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15979 TP63 is_implicated_in DOID:0080401 orofacial cleft 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8978 PIK3CG is_implicated_in DOID:0050211 swine influenza ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29867955 20200912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11051 SLC6A5 is_implicated_in DOID:0060698 hyperekplexia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9508 PSEN1 is_implicated_in DOID:0110455 dilated cardiomyopathy 1U ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12731 WAS is_implicated_in DOID:0112128 X-linked severe congenital neutropenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1160 TWNK is_implicated_in DOID:12558 chronic progressive external ophthalmoplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11431692 20070313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14988 POFUT1 is_implicated_in DOID:0060256 Dowling-Degos disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25987440 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25699607 20160908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11048 SLC6A2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17124432 20070507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11533 TAF1B is_implicated_in DOID:0112182 mismatch repair cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7873 NOS2 is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7859 NMU is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16984985 20070831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7892 PNP is_implicated_in DOID:5813 purine nucleoside phosphorylase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7590 MYLK is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17472811 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11788900 20150408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20454 POLR1B is_implicated_in DOID:0080792 Treacher Collins syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200722 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7979 NR3C2 is_implicated_in DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9662404 20180307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7979 NR3C2 is_implicated_in DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11588 TBP is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15381080 20111214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11917 TNFRSF1B is_not_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11607787 20130611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10681 SDHB is_implicated_in DOID:0050771 pheochromocytoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11404820 20070502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12502 SUMO1 is_implicated_in DOID:0080403 orofacial cleft 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9382 PRKACG is_implicated_in DOID:0111048 platelet-type bleeding disorder 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9766 RAB27A is_implicated_in DOID:4330 non-Langerhans-cell histiocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12531900 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9377 PRKAA2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16567511 20070531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_not_implicated_in DOID:1240 leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10383893 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7866 NOG is_not_implicated_in DOID:0110975 brachydactyly type B2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22529972 20170404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7585 MYL4 is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:12206 dengue hemorrhagic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18071882 20120423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9878 RASGRP1 is_implicated_in DOID:0111980 immunodeficiency 64 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190904 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7601 MYO3A is_implicated_in DOID:0110489 autosomal recessive nonsyndromic deafness 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29035 PPIP5K2 is_implicated_in DOID:0111638 autosomal recessive nonsyndromic deafness 100 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190605 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11449 SUCLG1 is_implicated_in DOID:0080128 mitochondrial DNA depletion syndrome 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:270 PARP1 is_implicated_in DOID:10952 nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16461442 20150723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8001 NRIP1 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16530497 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8794 PDE8B is_implicated_in DOID:0060280 primary pigmented nodular adrenocortical disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20465 SMC5 is_implicated_in DOID:0080688 mosaic variegated aneuploidy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7578 MYH8 is_implicated_in DOID:14566 disease of cellular proliferation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15282353 20070313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30836 POC1B is_implicated_in DOID:0111026 cone-rod dystrophy 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17317 TIMM22 is_implicated_in DOID:0112116 combined oxidative phosphorylation deficiency 43 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200429 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:0050697 chorioamnionitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15128916 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11257 SPR is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11443547 20070226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10937 SLC19A1 is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18635682 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11588 TBP is_not_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15850778 20111214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9546 PSMB9 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17581627 20120521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14234 NSD1 is_implicated_in DOID:10907 microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23599694 20141114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20720307 20110719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:0110360 retinitis pigmentosa 39 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18420 SETD2 is_implicated_in DOID:1790 malignant mesothelioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27834213 20210910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25455 TSR2 is_implicated_in DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9591 PTGDR is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11764 TG is_implicated_in DOID:12176 goiter ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1752952 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:520 aortic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25931195 20170502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44 TAP2 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9062973 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:10533 viral pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19539691 20110412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16973 PPP1R17 is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30100 PSENEN is_implicated_in DOID:2280 hidradenitis suppurativa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210721 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10923 SLC16A2 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15980113 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20990 PHACTR1 is_implicated_in DOID:4248 coronary stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22745674 20231116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9957 RELN is_implicated_in DOID:0060751 familial temporal lobe epilepsy 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25481 TRMU is_implicated_in DOID:0080778 transient infantile liver failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21868135 20161122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14967 SPACA1 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230906 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16513 TMC1 is_implicated_in DOID:0110520 autosomal recessive nonsyndromic deafness 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11847 TLR1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18547625 20101203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:0070204 familial partial lipodystrophy type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12405 TTR is_implicated_in DOID:0050638 transthyretin amyloidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14921 TAS2R16 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7762 NEUROD1 is_implicated_in DOID:4195 hyperglycemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18811724 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7809 NGFR is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18780967 20111011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12601 USH2A is_implicated_in DOID:0050563 nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23767834 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18704 NAA10 is_implicated_in DOID:0050781 Ogden syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10542 SBF1 is_implicated_in DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9349 PRDM5 is_implicated_in DOID:0080729 brittle cornea syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19119483 20191213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7720 NEB is_implicated_in DOID:0070336 arthrogryposis multiplex congenita-6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210616 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10979 SLC25A1 is_implicated_in DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200205 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8857 PEX16 is_implicated_in DOID:0080483 peroxisome biogenesis disorder 8A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30224 SLC52A2 is_implicated_in DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7713 NDUFS6 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18559093 20081215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12680 VEGFA is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16636650 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43 TAP1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19217216 20120420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21128869 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11103 SMARCB1 is_implicated_in DOID:0070045 Coffin-Siris syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17271 RRAS2 is_implicated_in DOID:0112170 Noonan syndrome 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10009 RHD is_implicated_in DOID:4175 Rh isoimmunization ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210818 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9605 PTGS2 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15334463 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11133 SNAP29 is_implicated_in DOID:0060337 CEDNIK syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7652 NBN is_implicated_in DOID:7400 Nijmegen breakage syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19743 POMT2 is_implicated_in DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8067 NUP88 is_implicated_in DOID:0111379 fetal akinesia deformation sequence syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190515 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12003 TP73 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9796703 20080331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12372 TSHB is_implicated_in DOID:0070123 congenital nongoitrous hypothyroidism 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9071 PLG is_implicated_in DOID:2452 thrombophilia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8392398 20070419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28993 PIEZO1 is_implicated_in DOID:0050580 hereditary lymphedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11851 TLR5 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10818 SGSH is_implicated_in DOID:0111395 mucopolysaccharidosis type IIIA ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191106 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11841482 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17216494 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9484978 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7944 NPR2 is_implicated_in DOID:0070316 Miura type epiphyseal chondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11796 THRA is_implicated_in DOID:0070128 congenital nongoitrous hypothyroidism 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19743 POMT2 is_implicated_in DOID:0050560 Walker-Warburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15894594 20160907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29090 SMCHD1 is_implicated_in DOID:0111193 facioscapulohumeral muscular dystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_implicated_in DOID:0070146 hereditary sensory neuropathy type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8804 PDGFRB is_implicated_in DOID:0111344 myeloproliferative disorder with eosinophilia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_implicated_in DOID:231 motor neuron disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18288693 20120206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9802 RAC2 is_implicated_in DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200902 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10848 SHH is_implicated_in DOID:0111380 solitary median maxillary central incisor ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25777 RFX7 is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11850 TLR4 is_not_implicated_in DOID:6543 acne ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17033191 20140109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11976 TNXB is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11642233 20070206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25807 SLC7A6OS is_implicated_in DOID:891 progressive myoclonus epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15633 TLR9 is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20604744 20130620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7559 MYCN is_implicated_in DOID:0060464 Feingold syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180704 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12355549 20090225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10451 RRM1 is_implicated_in DOID:12558 chronic progressive external ophthalmoplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12519 UCP3 is_implicated_in DOID:9743 diabetic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16373902 20090929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:114 heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15202865 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11610 TCAP is_implicated_in DOID:0110328 hypertrophic cardiomyopathy 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:13976 peptic esophagitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25910066 20170906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15911 NOP56 is_implicated_in DOID:0050983 spinocerebellar ataxia type 36 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:3565 meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18483342 20111006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8143 OPCML is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15761 OSBPL2 is_implicated_in DOID:0110588 autosomal dominant nonsyndromic deafness 67 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200708 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6769 SMAD3 is_implicated_in DOID:0070237 Loeys-Dietz syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8820 PDYN is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35271823 20231019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19120272 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8805 PDGFRL is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15860 PRPF6 is_implicated_in DOID:0110411 retinitis pigmentosa 60 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10600 SCNN1B is_implicated_in DOID:0080526 bronchiectasis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9287 PPP1R1B is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23295814 20180402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6770 SMAD4 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10819637 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7662 NCF4 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17897462 20210204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9863 RAPSN is_implicated_in DOID:0110675 congenital myasthenic syndrome 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180829 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17992 TRPM3 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12712 VPS33B is_implicated_in DOID:13580 cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15052268 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11641 TCF7L2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24338422 20220524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:12134 factor VIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25930091 20160427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7611 MYOD1 is_implicated_in DOID:0081349 congenital myopathy 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201216 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9232 PPARA is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17850927 20111123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7711 NDUFS4 is_implicated_in DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11581 TBCD is_implicated_in DOID:0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18746 SLURP1 is_implicated_in DOID:3390 palmoplantar keratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11285253 20070115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9449 PRNP is_implicated_in DOID:4249 Gerstmann-Straussler-Scheinker syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:39433 PRSS56 is_implicated_in DOID:0060835 isolated microphthalmia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11019 SLC34A1 is_implicated_in DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18253 PARL is_not_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20711738 20170509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9449 PRNP is_implicated_in DOID:0090103 Huntington's disease-like 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7532 MX1 is_implicated_in DOID:409 liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28139728 20210407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30304 RGS9BP is_implicated_in DOID:0070364 bradyopsia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23498762 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11571 TARDBP is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21667065 20120202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19321 NKX6-2 is_implicated_in DOID:0080252 spastic ataxia 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29168 RPGRIP1L is_implicated_in DOID:0050753 cerebellar ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17558409 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9235 PPARD is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16804087 20070528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9811 RAD21 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25546926 20230424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22105495 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11854 TSPAN7 is_implicated_in DOID:0112024 non-syndromic X-linked intellectual disability 58 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11367 STAT5B is_implicated_in DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200910 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11843 TLL1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22883091 20230130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17284 POT1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27459707 20220218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8032 NTRK2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20662941 20120104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17089 SYNE1 is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25091525 20170828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20389 RETN is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17598818 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26256 NDNF is_implicated_in DOID:0090070 hypogonadotropic hypogonadism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200408 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9706 NECTIN1 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10932188 20070215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4838 SERPIND1 is_implicated_in DOID:0111901 heparin cofactor II deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:0050685 small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24761905 20211216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7660 NCF1 is_implicated_in DOID:3265 chronic granulomatous disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7678602 20070314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11720 TECTA is_implicated_in DOID:0110479 autosomal recessive nonsyndromic deafness 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9872 RASA2 is_implicated_in DOID:3490 Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25049390 20221028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11849 TLR3 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16029432 20110330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11730 TERT is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26716642 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31399 SLC6A17 is_implicated_in DOID:0081212 autosomal recessive intellectual developmental disorder 48 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9236 PPARG is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18417957 20081104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12738 WBP2 is_implicated_in DOID:0080262 autosomal recessive nonsyndromic deafness 107 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18083 TRPV4 is_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7892 PNP is_implicated_in DOID:653 purine-pyrimidine metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3029074 20070306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17228 RAD54B is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11021 SLC35A1 is_implicated_in DOID:0070258 congenital disorder of glycosylation type IIf ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10911 SLC12A2 is_implicated_in DOID:0112159 autosomal dominant nonsyndromic deafness 78 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12009 TPI1 is_implicated_in DOID:0050884 triosephosphate isomerase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10937 SLC19A1 is_implicated_in DOID:2531 hematologic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21984221 20210218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14294 SHANK3 is_implicated_in DOID:0080354 Phelan-McDermid syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8583 SERPINE1 is_implicated_in DOID:11695 portal vein thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25987440 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25118 OTULIN is_implicated_in DOID:0080163 otulipenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9462 PRPS1 is_implicated_in DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11364 STAT3 is_not_implicated_in DOID:9008 psoriatic arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23127549 20140730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20474 TMC8 is_implicated_in DOID:13777 epidermodysplasia verruciformis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16031 RNF31 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11111 SMC1A is_implicated_in DOID:0070380 developmental and epileptic encephalopathy 85 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200429 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11781 TGM5 is_implicated_in DOID:0060283 peeling skin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11600 TBX22 is_implicated_in DOID:0111826 Abruzzo-Erickson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7646 NAT2 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15901993 20100317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10907 SLC11A1 is_implicated_in DOID:9146 visceral leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17067929 20120105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7577 MYH7 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18159245 20170316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15822 OXR1 is_implicated_in DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200325 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8031 NTRK1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18780967 20111011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_implicated_in DOID:0070483 Watson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30078 REEP6 is_implicated_in DOID:0080350 retinitis pigmentosa 77 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17637 PERP is_implicated_in DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6769 SMAD3 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10819637 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9766 RAB27A is_implicated_in DOID:0060833 Griscelli syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7876 NOS3 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12701818 20140102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22448 NOBOX is_implicated_in DOID:0080862 primary ovarian insufficiency 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1975 VSX2 is_implicated_in DOID:1432 blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10932181 20070328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12593 USF1 is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16699592 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29456 TOR1AIP1 is_implicated_in DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7473 MTRR is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15159311 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11892 TNF is_not_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15286263 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10295 RPGR is_implicated_in DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14545 RASGRP3 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19421330 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11768 TGFB2 is_implicated_in DOID:0070233 Loeys-Dietz syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1228 SERPING1 is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32747830 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9462 PRPS1 is_implicated_in DOID:0050647 Arts syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7788 NFIX is_implicated_in DOID:0050858 Marshall-Smith syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26814 RILPL1 is_implicated_in DOID:0081300 oculopharyngodistal myopathy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25660 TTC21B is_implicated_in DOID:0111119 nephronophthisis 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14304 UNC45B is_implicated_in DOID:0081338 myofibrillar myopathy 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9940 RDH5 is_implicated_in DOID:11105 fundus albipunctatus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8619 PAX5 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200325 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7436 MTHFR is_not_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9840906 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10839 SHBG is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19657112 20091015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14025 SLC5A7 is_implicated_in DOID:0110661 congenital myasthenic syndrome 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9393 PRKCA is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26671581 20180817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9076 PLIN1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15985482 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11367 STAT5B is_implicated_in DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7765 NF1 is_implicated_in DOID:0050458 juvenile myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10288 RP9 is_implicated_in DOID:0110387 retinitis pigmentosa 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19139 POMGNT1 is_implicated_in DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29679 PAM16 is_implicated_in DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180131 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7773 NF2 is_implicated_in DOID:4586 familial meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9713 PEX19 is_implicated_in DOID:0080486 peroxisome biogenesis disorder 12A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23246 MYPN is_implicated_in DOID:0110933 nemaline myopathy 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30262 PYCR2 is_implicated_in DOID:0060788 hypomyelinating leukodystrophy 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8156 OPRM1 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19959688 20231009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18122 SOX17 is_implicated_in DOID:9620 vesicoureteral reflux ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9944 RDX is_implicated_in DOID:0110482 autosomal recessive nonsyndromic deafness 24 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17814 SLF2 is_implicated_in DOID:0080688 mosaic variegated aneuploidy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10585 SCN1A is_implicated_in DOID:0111183 familial hemiplegic migraine 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7861 NNMT is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18635682 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7962 NR1D1 is_implicated_in DOID:0112313 brain small vessel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23083441 20151210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15925 SAMHD1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24317272 20210727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18712587 20101209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2488 NKX2-5 is_implicated_in DOID:9955 hypoplastic left heart syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10599 SCNN1A is_implicated_in DOID:0080527 bronchiectasis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16412 NLRC4 is_implicated_in DOID:0090065 familial cold autoinflammatory syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11050 SLC6A4 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10484962 20200730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8896 PGK1 is_implicated_in DOID:0111933 phosphoglycerate kinase 1 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11042 SLC6A1 is_implicated_in DOID:0060475 myoclonic-atonic epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10931 SLC17A3 is_implicated_in DOID:13189 gout ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12755 WDR3 is_implicated_in DOID:3969 thyroid gland papillary carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20578902 20160401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11766 TGFB1 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21640045 20110826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12679 VDR is_not_implicated_in DOID:12185 otosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23639864 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18188 TMCO1 is_implicated_in DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220810 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11726 TEP1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27305982 20220602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8805 PDGFRL is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11431 STX16 is_implicated_in DOID:0080222 pseudohypoparathyroidism type IB ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3046 PIGP is_implicated_in DOID:0080283 developmental and epileptic encephalopathy 55 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9936 OPN1LW is_implicated_in DOID:0050679 blue cone monochromacy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:0080016 spina bifida ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12375236 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9051 PLAT is_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24025446 20161006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7468 MTR is_implicated_in DOID:768 retinoblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20310006 20140723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13771 SOST is_implicated_in DOID:0060756 sclerosteosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180314 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8943 SERPINI1 is_implicated_in DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:13141 uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12198697 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:13141 uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16495319 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5233 HSPA1B is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12967056 20151023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21814517 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21217921 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6931 MC3R is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6931 MC3R is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16123355 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6931 MC3R is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11889220 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31629 MIR30E is_implicated_in DOID:11202 primary hyperparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31280217 20230925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20412081 20170301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 is_implicated_in DOID:14261 fragile X syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 is_implicated_in DOID:14261 fragile X syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1675488 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6932 MC4R is_implicated_in DOID:11981 morbid obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12588803 20070326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6932 MC4R is_implicated_in DOID:11981 morbid obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11443223 20070326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15742215 20170928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17569088 20170928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1245 vulva cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12543794 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27302 IBA57 is_implicated_in DOID:0110819 hereditary spastic paraplegia 74 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:0050770 polycystic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191204 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:0050770 polycystic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24706814 20191204 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18544563 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7459 MT-ND4 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14623372 20111020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7459 MT-ND4 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16538224 20111020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_implicated_in DOID:0110732 neuronal ceroid lipofuscinosis 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5009 HMGA2 is_implicated_in DOID:127 leiomyoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8954805 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3816 FOXJ1 is_implicated_in DOID:0111856 primary ciliary dyskinesia 43 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7190 MOCS1 is_implicated_in DOID:0111164 molybdenum cofactor deficiency type A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7190 MOCS1 is_implicated_in DOID:0111164 molybdenum cofactor deficiency type A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9921896 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7190 MOCS1 is_implicated_in DOID:0111164 molybdenum cofactor deficiency type A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12754701 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7190 MOCS1 is_implicated_in DOID:0111164 molybdenum cofactor deficiency type A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9731530 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20825955 20110811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 is_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16790700 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18177825 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18830724 20181003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20413850 20181003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:12960 acrocephalosyndactylia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25251565 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:12960 acrocephalosyndactylia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7874169 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5208 HSD11B1 is_implicated_in DOID:0090139 cortisone reductase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12858176 20070518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4175 GATM is_implicated_in DOID:0080757 Fanconi renotubular syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL is_implicated_in DOID:2247 spondylosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12110410 20151105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32850411 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16615267 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11103801 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15192016 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23516596 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:0050168 autoimmune polyendocrine syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21388354 20110811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4285 GJB3 is_implicated_in DOID:0050467 erythrokeratodermia variabilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16297190 20170126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4285 GJB3 is_implicated_in DOID:0050467 erythrokeratodermia variabilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21188847 20170126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4285 GJB3 is_implicated_in DOID:0050467 erythrokeratodermia variabilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10594760 20170126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4285 GJB3 is_implicated_in DOID:0050467 erythrokeratodermia variabilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22681493 20170126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4285 GJB3 is_implicated_in DOID:0050467 erythrokeratodermia variabilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25556823 20170126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4285 GJB3 is_implicated_in DOID:0050467 erythrokeratodermia variabilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10798362 20170126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4285 GJB3 is_implicated_in DOID:0050467 erythrokeratodermia variabilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15948974 20170126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4285 GJB3 is_implicated_in DOID:0050467 erythrokeratodermia variabilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9843209 20170126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14573320 20070913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16911840 20070913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5157 HPRT1 is_implicated_in DOID:1919 Lesch-Nyhan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5157 HPRT1 is_implicated_in DOID:1919 Lesch-Nyhan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24940672 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5157 HPRT1 is_implicated_in DOID:1919 Lesch-Nyhan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20638392 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26520 KASH5 is_implicated_in DOID:5426 primary ovarian insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231025 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19098994 20131029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21729 IRF2BP2 is_implicated_in DOID:0081156 common variable immunodeficiency 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3712 FKBP1B is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15497458 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:12134 factor VIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24916518 20160315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5163 HPS1 is_implicated_in DOID:0060539 Hermansky-Pudlak syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5163 HPS1 is_implicated_in DOID:0060539 Hermansky-Pudlak syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8896559 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29501 GPSM2 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20602914 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29501 GPSM2 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21348867 20161011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14508 MRPS22 is_implicated_in DOID:0080499 ovarian dysgenesis 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18817 HPS6 is_implicated_in DOID:3753 Hermansky-Pudlak syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19843503 20160728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18817 HPS6 is_implicated_in DOID:3753 Hermansky-Pudlak syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12548288 20160728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:4428 dyslexia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21897444 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15693910 20110322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16205835 20110322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17651147 20110322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17911365 20151009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24584466 20151009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15805147 20151009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6518 LBR is_implicated_in DOID:0111588 Greenberg dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21327084 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6518 LBR is_implicated_in DOID:0111588 Greenberg dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:1936 atherosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19490059 20110829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17254481 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17203192 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17517100 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22840759 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7526 MMUT is_implicated_in DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27167370 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7526 MMUT is_implicated_in DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6010 IL2RG is_implicated_in DOID:0060013 X-linked severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190306 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15372320 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24684517 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17584583 20100914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18389386 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22883484 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26385421 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:14705 Pfeiffer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4173 GATA4 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12845333 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:0110429 dilated cardiomyopathy 1H ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15996167 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:0110429 dilated cardiomyopathy 1H ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15498363 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:0110429 dilated cardiomyopathy 1H ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10432437 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17569088 20170928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15742215 20170928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19317738 20110104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16186482 20110104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9787 KIF20A is_implicated_in DOID:397 restrictive cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210728 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29294320 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26654556 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_implicated_in DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6617 LIPA is_implicated_in DOID:14497 Wolman disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8146180 20230607 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6617 LIPA is_implicated_in DOID:14497 Wolman disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230607 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6617 LIPA is_implicated_in DOID:14497 Wolman disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:6097111 20230607 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:2987 familial mediterranean fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:2987 familial mediterranean fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20217092 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:2987 familial mediterranean fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23038988 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:2987 familial mediterranean fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23862117 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20193 HFM1 is_implicated_in DOID:0080866 primary ovarian insufficiency 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20616161 20180108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_implicated_in DOID:3263 piebaldism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1717985 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_implicated_in DOID:3263 piebaldism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_implicated_in DOID:3263 piebaldism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1370874 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4070 GABBR1 is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26727527 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6740 LYZ is_implicated_in DOID:0050636 familial visceral amyloidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:14067 Plasmodium falciparum malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18396436 20160824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:811 lipodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12524233 20090320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6343 KITLG is_implicated_in DOID:10123 pigmentation disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221207 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6876 MAPK14 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23859041 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6876 MAPK14 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23027623 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19140096 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19542902 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4837 HCCS is_implicated_in DOID:10629 microphthalmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17033964 20070308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8712634 20131021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:3602 toxic encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20864405 20120124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17065682 20061031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17327461 20070515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19556211 20111117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6700 LRP8 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17847002 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6700 LRP8 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5439 IFNGR1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12851715 20120321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4556 GPX4 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20378690 20220622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5974 IL13RA1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19796199 20110225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16353 MAGED2 is_implicated_in DOID:0110147 Bartter disease type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21150878 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21281963 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19852851 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19198610 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 is_implicated_in DOID:3565 meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16598069 20120305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2401095 20131022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23329888 20131022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8894996 20131022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12694583 20131022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8096501 20131022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14334 MRTFA is_implicated_in DOID:0111998 immunodeficiency 66 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200429 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 is_implicated_in DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16951681 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 is_implicated_in DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20499 L2HGDH is_implicated_in DOID:0050574 L-2-hydroxyglutaric aciduria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20499 L2HGDH is_implicated_in DOID:0050574 L-2-hydroxyglutaric aciduria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24573090 20180307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:0050469 Costello syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:0050469 Costello syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25914166 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:0050469 Costello syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16881968 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:0050469 Costello syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16170316 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5012 HMMR is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16879055 20070802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21472143 20210517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20298583 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11802952 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19052351 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20159242 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12890388 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20214848 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:0080822 aspirin-induced respiratory disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20921925 20160817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:43738 MAPT-AS1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22221882 20190214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:14175 von Hippel-Lindau disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19551141 20130306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 is_implicated_in DOID:2843 long QT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15840476 20130718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 is_implicated_in DOID:2843 long QT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22199116 20130718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:12217 Lewy body dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25933391 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:12217 Lewy body dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20971030 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:12217 Lewy body dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17529967 20080204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17529973 20080204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21243434 20110916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14550952 20130116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3700 FH is_implicated_in DOID:0111261 fumarase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6186 IVD is_implicated_in DOID:9252 amino acid metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2063866 20070226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16321859 20061024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31629 MIR30E is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20347265 20230925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:0080053 Albright's hereditary osteodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11095461 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:0080053 Albright's hereditary osteodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11600516 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:0080053 Albright's hereditary osteodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:0111530 linear nevus sebaceous syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:0111530 linear nevus sebaceous syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22683711 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_implicated_in DOID:0110443 dilated cardiomyopathy 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17036286 20170109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A is_implicated_in DOID:2030 anxiety disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21512427 20111129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4626 GSTA1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20374258 20110922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6836 MAP1B is_implicated_in DOID:0050454 periventricular nodular heterotopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23657 GNE is_implicated_in DOID:0080718 GNE myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_not_implicated_in DOID:3132 porphyria cutanea tarda ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17137171 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:4440 seminoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19855393 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4580 GRIK2 is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10522893 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15219383 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21307958 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11263477 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_not_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16571086 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:8725 vascular dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16983186 20150619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4689 GUCY2D is_implicated_in DOID:980 choroidal sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20210814 20110926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20858151 20110926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18057098 20110926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10806136 20110926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18709160 20110926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15693909 20110926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7326 MSH3 is_implicated_in DOID:2871 endometrial carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8782829 20070309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5136 HOXD13 is_implicated_in DOID:0050689 brachydactyly-syndactyly syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13869 LOXL3 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220316 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16046620 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6621 LIPE is_implicated_in DOID:0070206 familial partial lipodystrophy type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2235 KLF6 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11752579 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2235 KLF6 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15563 IL37 is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210707 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_implicated_in DOID:9255 frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18855025 20111101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_implicated_in DOID:9255 frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16862116 20111101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_implicated_in DOID:9255 frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19012866 20111101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_implicated_in DOID:9255 frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16983685 20111101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_implicated_in DOID:0111100 maturity-onset diabetes of the young type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:14705 Pfeiffer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33074973 20221208 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:14705 Pfeiffer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7795583 20221208 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:14705 Pfeiffer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221208 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23924173 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20307501 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18950394 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9164324 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4814 KALRN is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20107840 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4814 KALRN is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28706949 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4814 KALRN is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25917671 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28247576 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20510319 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17728790 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20858521 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10562813 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20197062 20151029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0080052 acromesomelic dysplasia, Grebe type ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19038017 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0080052 acromesomelic dysplasia, Grebe type ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18979166 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0080052 acromesomelic dysplasia, Grebe type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0080052 acromesomelic dysplasia, Grebe type ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23812741 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25183 M1AP is_implicated_in DOID:0112176 spermatogenic failure 48 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A is_implicated_in DOID:0111099 maturity-onset diabetes of the young type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5985 IL17RA is_implicated_in DOID:0111996 immunodeficiency 51 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16882 HCN4 is_implicated_in DOID:0110225 Brugada syndrome 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11630 HNF1B is_implicated_in DOID:26 pancreas disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15068978 20090901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL is_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0060071 pre-malignant neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28182092 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25989802 20211022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_implicated_in DOID:0060291 oculodentodigital dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_implicated_in DOID:0060291 oculodentodigital dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16219735 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_implicated_in DOID:0060291 oculodentodigital dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15637728 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_implicated_in DOID:0060291 oculodentodigital dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12457340 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3801 FOXC2 is_implicated_in DOID:0111509 lymphedema-distichiasis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16606836 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17235395 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17200176 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20079901 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14178 HS3ST6 is_implicated_in DOID:14735 hereditary angioedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210811 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1358857 20131021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:2859 hemoglobin C disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2239966 20070329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29622 MCAT is_implicated_in DOID:5723 optic atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 is_implicated_in DOID:9248 Pallister-Hall syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15739154 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 is_implicated_in DOID:9248 Pallister-Hall syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9054938 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 is_implicated_in DOID:9248 Pallister-Hall syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24736735 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 is_implicated_in DOID:9248 Pallister-Hall syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_implicated_in DOID:2018 hyperinsulinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9435328 20070416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4162 GARS1 is_implicated_in DOID:0110164 Charcot-Marie-Tooth disease type 2D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20541540 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11960 GIGYF2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3662 FGB is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9514419 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:0060233 cardiofaciocutaneous syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16474404 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6010 IL2RG is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7557965 20070223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6259 KCNJ13 is_implicated_in DOID:0110118 Leber congenital amaurosis 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_implicated_in DOID:0111352 D-2-hydroxyglutaric aciduria 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190918 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6009 IL2RB is_implicated_in DOID:437 myasthenia gravis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20728947 20111216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24024195 20200717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28612994 20200717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1573 KRIT1 is_implicated_in DOID:0060669 cerebral cavernous malformation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14755725 20070129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1573 KRIT1 is_implicated_in DOID:0060669 cerebral cavernous malformation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15079030 20070129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:3490 Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16474405 20070309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12651073 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18552411 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21658414 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5994 IL1R2 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30895747 20220714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20159242 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9470849 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14735197 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25561800 20210427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29121062 20211130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28539123 20211130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18164066 20131031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22800422 20131031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4174 GATA6 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22407241 20170822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4174 GATA6 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23020118 20170822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19842992 20110922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20674822 20110922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12426569 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23398946 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:0080773 delta beta-thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6601 LIG4 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19147782 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25252909 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4296 GLA is_implicated_in DOID:14499 Fabry disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2539398 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4296 GLA is_implicated_in DOID:14499 Fabry disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6930 MC2R is_implicated_in DOID:0050562 West syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19024088 20120702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6919 MBD4 is_not_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22505706 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6819 MALT1 is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12560219 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5385 IDH3B is_implicated_in DOID:0110409 retinitis pigmentosa 46 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:13166 allergic bronchopulmonary aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23278646 20200717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19030725 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21208426 20230627 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27087001 20230627 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20716378 20230627 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230627 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18332101 20230627 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8945470 20230627 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17828387 20230627 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18003757 20230627 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0111339 Vohwinkel syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10369869 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0111339 Vohwinkel syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3665 FGF1 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24613087 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5008 HMGCS2 is_implicated_in DOID:0081168 HMG-CoA synthase 2 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19102712 20090429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16620396 20090429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19500151 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31866536 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22564729 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23777204 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9324112 20061028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18866 KCNT2 is_implicated_in DOID:0080284 developmental and epileptic encephalopathy 57 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17668637 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17724372 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_implicated_in DOID:2999 granulosa cell tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14970867 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4703 GYPB is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1459 hypothyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17588142 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA is_implicated_in DOID:0110749 type 1 diabetes mellitus 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28900078 20231109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18564365 20200806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27468578 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11978651 20061104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:437 myasthenia gravis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21924912 20131017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:437 myasthenia gravis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15003812 20131017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23590899 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:4378 peanut allergy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19220774 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11860825 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25432134 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6601 LIG4 is_implicated_in DOID:0060021 DNA ligase IV deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6601 LIG4 is_implicated_in DOID:0060021 DNA ligase IV deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27063650 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:4677 keratitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22503230 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4237 GFI1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20075157 20160308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24615520 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18711148 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24816919 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6298 KCNQ4 is_implicated_in DOID:0110558 autosomal dominant nonsyndromic deafness 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7659163 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12837270 20121029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12631337 20121029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24593045 20151012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4181 GBF1 is_implicated_in DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:11204 allergic conjunctivitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20002627 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 is_implicated_in DOID:5603 T-cell acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18559588 20200127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15298948 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3694 FGG is_implicated_in DOID:2236 congenital afibrinogenemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3694 FGG is_implicated_in DOID:2236 congenital afibrinogenemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11001903 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3694 FGG is_implicated_in DOID:2236 congenital afibrinogenemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15284111 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4285 GJB3 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4598 GRM6 is_implicated_in DOID:0110865 congenital stationary night blindness 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19194 HMCN1 is_implicated_in DOID:0110014 age related macular degeneration 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_not_implicated_in DOID:4780 anti-basement membrane glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19640933 20111014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:11512 Budd-Chiari syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19338043 20140303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4175 GATM is_implicated_in DOID:0050712 AGAT deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25432134 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17916905 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:0080325 tuberous sclerosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0081317 multiple synostoses syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16532400 20170130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6367 KLK6 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12928483 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9669 senile cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22446016 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28852433 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5234 HSPA1L is_implicated_in DOID:13141 uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17591867 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:0111411 exudative vitreoretinopathy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6696 LRP4 is_implicated_in DOID:0110674 congenital myasthenic syndrome 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10557056 20160810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21205020 20121128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17069782 20121128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:10871 age related macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22618592 20131030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3721 FKBP5 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4082 GABRB2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16080114 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29077 IFT140 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19102712 20090429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16620396 20090429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:0050073 invasive aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17311505 20140722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7121 MKS1 is_implicated_in DOID:0070115 Meckel syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17397051 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7121 MKS1 is_implicated_in DOID:0070115 Meckel syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7121 MKS1 is_implicated_in DOID:0070115 Meckel syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17935508 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7121 MKS1 is_implicated_in DOID:0070115 Meckel syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23351400 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5301 HTR6 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10624811 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6458 KRT81 is_implicated_in DOID:421 hair disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9402962 20070302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17494 GJC2 is_implicated_in DOID:0060787 hypomyelinating leukodystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15192806 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17494 GJC2 is_implicated_in DOID:0060787 hypomyelinating leukodystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18094336 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17494 GJC2 is_implicated_in DOID:0060787 hypomyelinating leukodystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17494 GJC2 is_implicated_in DOID:0060787 hypomyelinating leukodystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21959080 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17494 GJC2 is_implicated_in DOID:0060787 hypomyelinating leukodystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16707726 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6050 IMPA1 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26416544 20210416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11588017 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7373 MSN is_implicated_in DOID:0112001 immunodeficiency 50 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:8997 polycythemia vera ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:8997 polycythemia vera ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15781101 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27288300 20190920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28921602 20190920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13601 FBXL4 is_implicated_in DOID:0080131 mitochondrial DNA depletion syndrome 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16846526 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20064872 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26548378 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5233 HSPA1B is_implicated_in DOID:0080205 CAKUT ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20692469 20130417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_not_implicated_in DOID:9111 cutaneous leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16950634 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4232 GDNF is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2508 Takayasu's arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17428358 20230920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29110 KIAA0753 is_implicated_in DOID:0050592 asphyxiating thoracic dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210825 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8863159 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22876116 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17718856 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19328768 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18435798 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16617303 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9236141 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16971892 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26787436 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15221638 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16220557 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23592911 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17984934 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25613431 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21907952 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25729264 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11702223 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11453977 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22772377 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21976953 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8894692 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11059536 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20886638 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8882780 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:14323 Marfan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16222657 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19336737 20160128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31977279 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15942906 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:8692 myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21254556 20160125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:8692 myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18760837 20160125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19752172 20140114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4083 GABRB3 is_implicated_in DOID:1825 childhood absence epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4083 GABRB3 is_implicated_in DOID:1825 childhood absence epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16835263 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 is_implicated_in DOID:3204 schwannomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28365909 20220414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 is_implicated_in DOID:3204 schwannomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29409008 20220414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 is_implicated_in DOID:3204 schwannomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25480913 20220414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_implicated_in DOID:1040 chronic lymphocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20731705 20160819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_implicated_in DOID:1040 chronic lymphocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20090783 20160819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_implicated_in DOID:1040 chronic lymphocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20123861 20160819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_implicated_in DOID:1040 chronic lymphocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21791429 20160819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:4780 anti-basement membrane glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21569485 20110811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_not_implicated_in DOID:10140 dry eye syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22128229 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3662 FGB is_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17469143 20121205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:11394 adult respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16135717 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0060532 latex allergy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15536412 20110817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21702710 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6842 MAP2K2 is_implicated_in DOID:0111463 cardiofaciocutaneous syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6842 MAP2K2 is_implicated_in DOID:0111463 cardiofaciocutaneous syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20358587 20221220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14691581 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15201511 20201119 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21440682 20201119 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21664963 20201119 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201119 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20580995 20201119 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21741664 20201119 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20207784 20201119 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 is_implicated_in DOID:11193 syndactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25267529 20170130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 is_implicated_in DOID:0060799 syndromic X-linked intellectual disability Lubs type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231011 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21051083 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17651144 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11075422 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6387 KLC1 is_implicated_in DOID:2378 relapsing-remitting multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17999208 20111212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27644568 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12375325 20140722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0060318 acute promyelocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21875282 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20655738 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22198560 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7208 MPDZ is_implicated_in DOID:10908 hydrocephalus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4938 HLA-DPA1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21814517 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18437 HAVCR2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27034168 20201116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30767 KNSTRN is_implicated_in DOID:3151 skin squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25194279 20200604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30767 KNSTRN is_implicated_in DOID:3151 skin squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30972880 20200604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7328 MSH5 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220720 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15465 GPHN is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12754701 20070511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4419 GNRH1 is_implicated_in DOID:824 periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15490304 20141217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4036 FYB1 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4814 KALRN is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25316661 20230727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4814 KALRN is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30483314 20230727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4814 KALRN is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19706030 20230727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4814 KALRN is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27218147 20230727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9111193 20121018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17067754 20121018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4114 GAL is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24086514 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6708 LSS is_implicated_in DOID:0080582 hypotrichosis 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12765 FOXN1 is_implicated_in DOID:4123 nail disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10206641 20070219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_implicated_in DOID:13099 Moyamoya disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22234791 20230721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3771 FMO3 is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16324215 20070809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5201 HS6ST1 is_implicated_in DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 is_implicated_in DOID:1148 polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25267529 20170130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_implicated_in DOID:2861 congenital nonspherocytic hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1999409 20151217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_implicated_in DOID:2861 congenital nonspherocytic hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24923766 20151217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11811 KLF11 is_implicated_in DOID:0111106 maturity-onset diabetes of the young type 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:0111275 speech-language disorder-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11586359 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:0111275 speech-language disorder-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17033973 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:0111275 speech-language disorder-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:0111275 speech-language disorder-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15877281 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:0111275 speech-language disorder-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16984964 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5147 HPD is_implicated_in DOID:0050727 tyrosinemia type III ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180725 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21784728 20170321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23378462 20170321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14064 HDAC6 is_implicated_in DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26527 HGSNAT is_implicated_in DOID:0110389 retinitis pigmentosa 73 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4070 GABBR1 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26727527 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33702 MICOS13 is_implicated_in DOID:0111499 combined oxidative phosphorylation deficiency 37 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:3770 pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17309781 20100910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11957 MED12 is_implicated_in DOID:14711 FG syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17334363 20170629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11957 MED12 is_implicated_in DOID:14711 FG syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20507344 20170629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20844 GPR156 is_implicated_in DOID:0050565 autosomal recessive nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30734130 20190927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19119414 20090722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19106270 20090722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16024972 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11588017 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18341619 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17006604 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17303794 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20484924 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15315330 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19796199 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20198887 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23317483 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19575932 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4078 GABRA4 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16770606 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12689525 20070322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6694 LRP2 is_implicated_in DOID:0090144 Donnai-Barrow syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10666194 20160125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15738600 20160125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23026 GNPTG is_implicated_in DOID:0080678 mucolipidosis III gamma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21365 LYRM4 is_implicated_in DOID:0111476 combined oxidative phosphorylation deficiency 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20528910 20170227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21242499 20170227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20947659 20170227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25639775 20170227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24126159 20170227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26223426 20170227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22882323 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17594514 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21072 MANEA is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19255376 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:848 arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20472930 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15135176 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16413497 20090428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:0080652 calcium oxalate nephrolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17258699 20121030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21682878 20131030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6930 MC2R is_implicated_in DOID:0080621 glucocorticoid deficiency 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23246423 20140718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6240 KCNE1 is_implicated_in DOID:2842 Jervell-Lange Nielsen syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16987820 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6240 KCNE1 is_implicated_in DOID:2842 Jervell-Lange Nielsen syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9445165 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6240 KCNE1 is_implicated_in DOID:2842 Jervell-Lange Nielsen syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0110970 brachydactyly type C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0110970 brachydactyly type C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25092592 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0110970 brachydactyly type C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23812741 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0110970 brachydactyly type C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14735582 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12421502 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6330 KIR2DL2 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26890333 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21315052 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11555411 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15131572 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16629787 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4938 HLA-DPA1 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12073072 20120328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7392 MSX2 is_implicated_in DOID:2340 craniosynostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8968743 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7392 MSX2 is_implicated_in DOID:2340 craniosynostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10128 venous insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22766250 20140114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21181356 20230725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21963893 20230725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:0060901 lymphoplasmacytic lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15659493 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:0060901 lymphoplasmacytic lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21564078 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6701 LRPAP1 is_implicated_in DOID:1307 dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18721259 20151113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4839 HCFC1 is_implicated_in DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6132 ISL1 is_implicated_in DOID:6406 double outlet right ventricle ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31484864 20230404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:4441 dysgerminoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17243131 20080205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 is_implicated_in DOID:0110895 inflammatory bowel disease 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5287 HTR1B is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12556913 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19879020 20140210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18785640 20140210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18162161 20140210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22221882 20140210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:12205 dengue disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26240159 20171214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18169 FKBP10 is_implicated_in DOID:0110351 osteogenesis imperfecta type 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32560041 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17125797 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:4780 anti-basement membrane glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21569485 20130417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:0060863 patterned macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22893068 20131101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23331206 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10195071 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23758905 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24593045 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22882323 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4935 HLA-DMB is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10375868 20061117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:0111632 familial erythrocytosis 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:22923 GMPPA is_implicated_in DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6309 KERA is_implicated_in DOID:2566 corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10802664 20070307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22788 FEZF1 is_implicated_in DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:0080334 aortic valve disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26431034 20230522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:1733 cryptosporidiosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19827946 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:11758 iron deficiency anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29194702 20190905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:0110019 age related macular degeneration 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:0110019 age related macular degeneration 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19933195 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:0110019 age related macular degeneration 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18436811 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:0110019 age related macular degeneration 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19796758 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:0110019 age related macular degeneration 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20157352 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:0110019 age related macular degeneration 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18207215 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:10923 sickle cell anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24136375 20230725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6412 KRT1 is_implicated_in DOID:4603 epidermolytic hyperkeratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6412 KRT1 is_implicated_in DOID:4603 epidermolytic hyperkeratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11286616 20221214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19371834 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20927332 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26997531 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:9669 senile cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10892871 20140228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22215535 20190715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17065694 20190715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18439701 20190715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8932997 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19551681 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6490 LAMB3 is_implicated_in DOID:3209 junctional epidermolysis bullosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7698759 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6490 LAMB3 is_implicated_in DOID:3209 junctional epidermolysis bullosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 is_implicated_in DOID:14761 Greig cephalopolysyndactyly syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 is_implicated_in DOID:14761 Greig cephalopolysyndactyly syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24736735 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 is_implicated_in DOID:14761 Greig cephalopolysyndactyly syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15739154 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 is_implicated_in DOID:14761 Greig cephalopolysyndactyly syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10441342 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 is_implicated_in DOID:14761 Greig cephalopolysyndactyly syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22903559 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15969671 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18947013 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17536219 20100922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_implicated_in DOID:0050604 acrocapitofemoral dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12632327 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_implicated_in DOID:0050604 acrocapitofemoral dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5213 HSD17B4 is_implicated_in DOID:0090031 D-bifunctional protein deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5213 HSD17B4 is_implicated_in DOID:0090031 D-bifunctional protein deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9345094 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5213 HSD17B4 is_implicated_in DOID:0090031 D-bifunctional protein deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16385454 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7462 MT-ND6 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24398099 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7462 MT-ND6 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23665487 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7462 MT-ND6 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19732751 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:0111337 Jackson-Weiss syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:0111337 Jackson-Weiss syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7874170 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:11265 trachoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18824733 20131004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_implicated_in DOID:1727 retinal vein occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23791966 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:11963 esophagitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20811626 20101230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:0111705 oculoectodermal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190918 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15302996 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23812950 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4624 GSS is_implicated_in DOID:0080699 glutathione synthetase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8896573 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4624 GSS is_implicated_in DOID:0080699 glutathione synthetase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9215686 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 is_implicated_in DOID:3068 glioblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25495392 20160805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 is_implicated_in DOID:3068 glioblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19765000 20160805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:8618 oral cavity cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14735473 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:8618 oral cavity cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22594240 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21186201 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28887 LEMD3 is_implicated_in DOID:0111536 Buschke-Ollendorff syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19438932 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28887 LEMD3 is_implicated_in DOID:0111536 Buschke-Ollendorff syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28887 LEMD3 is_implicated_in DOID:0111536 Buschke-Ollendorff syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21985280 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28887 LEMD3 is_implicated_in DOID:0111536 Buschke-Ollendorff syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20678097 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:417 autoimmune disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21744463 20131017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:417 autoimmune disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16005081 20131017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12771724 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9044854 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10895068 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15730518 20061102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12044990 20111110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4070 GABBR1 is_implicated_in DOID:670 amphetamine abuse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30143926 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4172 GATA3 is_implicated_in DOID:11199 hypoparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10935639 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:3132 porphyria cutanea tarda ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19001803 20190905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:3132 porphyria cutanea tarda ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27661980 20190905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6051 IMPA2 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9322233 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6051 IMPA2 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14699425 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4845 HCN1 is_implicated_in DOID:0111296 generalized epilepsy with febrile seizures plus 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190710 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30171 HSPB8 is_implicated_in DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30839 KRT25 is_implicated_in DOID:0111574 autosomal recessive woolly hair 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15243926 20200626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12969506 20200626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP is_implicated_in DOID:2352 hemochromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12469120 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5033 HNRNPA2B1 is_implicated_in DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23455423 20150827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20684489 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10689122 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15853900 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10202362 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16112029 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6819 MALT1 is_implicated_in DOID:0111988 immunodeficiency 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14652796 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20368543 20160804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25324972 20160804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10051703 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11802952 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19052351 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12890388 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23265383 20170320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:11829 degenerative myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11864433 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:11829 degenerative myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10887689 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6080 INPPL1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15220217 20070713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20400988 20160316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6356 KLHL5 is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4507 GABBR2 is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28118741 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_implicated_in DOID:2030 anxiety disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22328461 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:0050848 obstructive sleep apnea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18204169 20110321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6442 KRT5 is_implicated_in DOID:4644 epidermolysis bullosa simplex ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6442 KRT5 is_implicated_in DOID:4644 epidermolysis bullosa simplex ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1372711 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5389 IDS is_implicated_in DOID:12799 mucopolysaccharidosis II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5389 IDS is_implicated_in DOID:12799 mucopolysaccharidosis II ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27146977 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5389 IDS is_implicated_in DOID:12799 mucopolysaccharidosis II ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1550586 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:0111029 hemochromatosis type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230816 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22123287 20160318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15717 GEMIN4 is_implicated_in DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190918 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16112029 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10689122 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15853900 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4812 HAP1 is_not_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22698993 20171002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4812 HAP1 is_not_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26000918 20171002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4812 HAP1 is_not_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18192679 20171002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:11758 iron deficiency anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12225391 20160824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44480 IFNL4 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25864220 20201205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44480 IFNL4 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29866411 20201205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44480 IFNL4 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24522196 20201205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44480 IFNL4 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25883387 20201205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44480 IFNL4 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26032235 20201205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4173 GATA4 is_implicated_in DOID:0050651 atrioventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5320 HYAL1 is_implicated_in DOID:0050809 mucopolysaccharidosis IX ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4565 GRB14 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27281273 20231024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1024 leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19698125 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1024 leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20003324 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4868 HERC2 is_implicated_in DOID:10123 pigmentation disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21890078 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4892 HGD is_implicated_in DOID:9270 alkaptonuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8782815 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4892 HGD is_implicated_in DOID:9270 alkaptonuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13664 MACF1 is_implicated_in DOID:0112228 lissencephaly 9 with complex brainstem malformation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:10140 dry eye syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18419107 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44480 IFNL4 is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25740255 20201104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:633 myositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9550481 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:633 myositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16609350 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:633 myositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17586554 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:633 myositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8814062 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:1037 lymphoid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12010828 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5234 HSPA1L is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23870089 20140624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 is_implicated_in DOID:3347 osteosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20577141 20110711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31038770 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4400 GNB3 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12634518 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:37227 KBTBD13 is_implicated_in DOID:0110935 nemaline myopathy 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18985010 20090916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8641022 20090916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17926179 20160412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25469832 20160412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_implicated_in DOID:0060888 transient myeloproliferative syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_implicated_in DOID:0060888 transient myeloproliferative syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14636651 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4543 GRK4 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15097232 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17239995 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15689450 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15585340 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:401 multidrug-resistant tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14522182 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:4928 intrahepatic cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24139215 20190426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:1584 acute chest syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23952145 20151215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16951 IVNS1ABP is_implicated_in DOID:0112005 immunodeficiency 70 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200812 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8228210 20070802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4172 GATA3 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10935639 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15968 GDAP1 is_implicated_in DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA is_implicated_in DOID:614 lymphopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9096364 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4938 HLA-DPA1 is_implicated_in DOID:9415 allergic asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28380482 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4122 GALNS is_implicated_in DOID:0111391 mucopolysaccharidosis IVA ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6415 KRT13 is_implicated_in DOID:0081288 white sponge nevus 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12651073 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25182707 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24445728 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4879 HEXB is_implicated_in DOID:12377 spinal muscular atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1720305 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3750 FLII is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11745231 20070309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20961758 20170109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19342235 20170109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19179078 20170109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6469 KYNU is_implicated_in DOID:0112257 hydroxykynureninuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15927971 20090428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28913 HSCB is_implicated_in DOID:8955 sideroblastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210929 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7427 MT-CYB is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18245469 20080805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25787238 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26857650 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21733090 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27298104 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21236409 20131029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20570631 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26857650 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11454644 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19117368 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18512783 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21246357 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16927413 20090429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_not_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7928443 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22317767 20130118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12171893 20130118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:9849 Meniere's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12542204 20131017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:2452 thrombophilia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23454623 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27279 MPZL3 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29193083 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7493029 20191010 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18322954 20191010 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191010 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15646 KLHL7 is_implicated_in DOID:0110386 retinitis pigmentosa 42 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_not_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15998549 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_not_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12116195 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_not_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12655497 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:2893 cervix carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10813720 20140114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA is_implicated_in DOID:2452 thrombophilia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10910940 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4600 GRM8 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12676915 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6647 LMOD1 is_implicated_in DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210616 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30497 KIF7 is_implicated_in DOID:9250 acrocallosal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21552264 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30497 KIF7 is_implicated_in DOID:9250 acrocallosal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30497 KIF7 is_implicated_in DOID:9250 acrocallosal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23125460 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_implicated_in DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8706297 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7781744 20131209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21338583 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15961413 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21701785 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18401856 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:12297 Vogt-Koyanagi-Harada disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11835809 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10602477 20080930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16969861 20080930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7458 MT-ND3 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15975594 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6239 KCND3 is_implicated_in DOID:0050970 spinocerebellar ataxia type 19/22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:437 myasthenia gravis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19561379 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:437 myasthenia gravis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10593018 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7207 MPDU1 is_implicated_in DOID:0080558 congenital disorder of glycosylation If ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6132 ISL1 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23572340 20230406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6132 ISL1 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24634231 20230406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8618 oral cavity cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17461521 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8618 oral cavity cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23057317 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8618 oral cavity cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17418613 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_implicated_in DOID:0050560 Walker-Warburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19266496 20170109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_implicated_in DOID:0050560 Walker-Warburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9690476 20170109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_implicated_in DOID:0050560 Walker-Warburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10545611 20170109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:4029 gastritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15112335 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24323028 20211119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30885352 20211119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28177435 20211119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19221176 20130118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6176 ITPA is_implicated_in DOID:583 hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21274861 20160208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6176 ITPA is_implicated_in DOID:583 hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23933495 20160208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28007623 20211119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29627316 20211119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29748005 20211119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27873319 20211119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16642044 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23969938 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11442493 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11290608 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15840 KMT2B is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18320596 20141031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR is_implicated_in DOID:9521 Laron syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR is_implicated_in DOID:9521 Laron syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25196842 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR is_implicated_in DOID:9521 Laron syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9024232 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20739761 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21187939 20111014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17565649 20110919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29670 GNPTAB is_implicated_in DOID:0080070 mucolipidosis II alpha/beta ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7326 MSH3 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9401011 20070521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17068223 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3680 FGF23 is_implicated_in DOID:0050948 autosomal dominant hypophosphatemic rickets ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11062477 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3680 FGF23 is_implicated_in DOID:0050948 autosomal dominant hypophosphatemic rickets ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19655082 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3680 FGF23 is_implicated_in DOID:0050948 autosomal dominant hypophosphatemic rickets ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16886896 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6522 LCAT is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12673583 20061026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_implicated_in DOID:2218 blood platelet disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23168074 20230918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_implicated_in DOID:2218 blood platelet disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28041267 20230918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_implicated_in DOID:2218 blood platelet disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22821001 20230918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_implicated_in DOID:2218 blood platelet disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22901851 20230918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_implicated_in DOID:2218 blood platelet disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26308704 20230918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:9415 allergic asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28380482 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12200364 20160120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6734 LYL1 is_implicated_in DOID:5603 T-cell acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200325 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19060480 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21930285 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23321485 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25893807 20200727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16425277 20200727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:3969 thyroid gland papillary carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32024448 20211118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10051703 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20214848 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19528258 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19439981 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20486920 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20159242 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6847 MAP2K7 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27861856 20220922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15973460 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:3165 skin benign neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22683711 20170201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:10887 lepromatous leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20650301 20140723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22182247 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21653279 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15136237 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_implicated_in DOID:0080598 Kleefstra syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18249 KCTD1 is_implicated_in DOID:0111550 scalp-ear-nipple syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25135 LRSAM1 is_implicated_in DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11630 HNF1B is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11317673 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11630 HNF1B is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19417042 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11630 HNF1B is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:3611 acute retinal necrosis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2801857 20131022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9401011 20070521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22139978 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16886896 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11819818 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28949 IQCB1 is_implicated_in DOID:12712 nephronophthisis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18076122 20160929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6912 MATR3 is_implicated_in DOID:0060212 amyotrophic lateral sclerosis type 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_implicated_in DOID:552 pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19346297 20110104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25303977 20141022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15968 GDAP1 is_implicated_in DOID:0110185 Charcot-Marie-Tooth disease type 4A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15968 GDAP1 is_implicated_in DOID:0110185 Charcot-Marie-Tooth disease type 4A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11743579 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15968 GDAP1 is_implicated_in DOID:0110185 Charcot-Marie-Tooth disease type 4A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12499475 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15968 GDAP1 is_implicated_in DOID:0110185 Charcot-Marie-Tooth disease type 4A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11743580 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6283 KCNK9 is_implicated_in DOID:0050675 Birk-Barel syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6909 MATN3 is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15121775 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6909 MATN3 is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11479597 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29634 MEGF10 is_implicated_in DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4824 HBA2 is_implicated_in DOID:0111363 Heinz body anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4331 GLS is_implicated_in DOID:0112207 developmental and epileptic encephalopathy 71 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26927 FOXRED1 is_implicated_in DOID:0112085 nuclear type mitochondrial complex I deficiency 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25396 FREM2 is_implicated_in DOID:0111407 Fraser syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_implicated_in DOID:13809 familial combined hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16338252 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7461 MT-ND5 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21131053 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7461 MT-ND5 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16240359 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7461 MT-ND5 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19022198 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7461 MT-ND5 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1732158 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7461 MT-ND5 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16816025 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33276 FLG2 is_implicated_in DOID:0060283 peeling skin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19308965 20140207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19897031 20160810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6700 LRP8 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17847002 20090320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15243926 20200626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19445991 20200626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2810 GSDME is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9771715 20070214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 is_implicated_in DOID:0110644 long QT syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16620556 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15595630 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19036 MAST3 is_implicated_in DOID:0070394 developmental and epileptic encephalopathy 108 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221123 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_implicated_in DOID:13628 favism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8079 FRMD7 is_implicated_in DOID:0111790 congenital nystagmus 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 is_implicated_in DOID:0060639 permanent neonatal diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 is_implicated_in DOID:0060639 permanent neonatal diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15115830 20231101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 is_implicated_in DOID:0060639 permanent neonatal diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16670688 20231101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:2228 thrombocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15781101 20200117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:2228 thrombocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24398328 20200117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:2228 thrombocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:2228 thrombocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22467227 20200117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:678 progressive supranuclear palsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19879020 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:678 progressive supranuclear palsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15792962 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:678 progressive supranuclear palsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16839689 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:678 progressive supranuclear palsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4823 HBA1 is_implicated_in DOID:0110031 hemoglobin H disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4082 GABRB2 is_implicated_in DOID:0080471 developmental and epileptic encephalopathy 92 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:44480 IFNL4 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25740255 20201130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44480 IFNL4 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29534310 20201130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9111193 20121018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18544563 20121018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA is_implicated_in DOID:2236 congenital afibrinogenemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA is_implicated_in DOID:2236 congenital afibrinogenemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15795544 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA is_implicated_in DOID:2236 congenital afibrinogenemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10602365 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9164 achalasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30788115 20190920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9164 achalasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30092016 20190920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9164 achalasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11837716 20190920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18983893 20180921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18303265 20180921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24292895 20180921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15738600 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10666194 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14607752 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:8505 dermatitis herpetiformis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7914110 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7193 MOCS2 is_implicated_in DOID:0111163 molybdenum cofactor deficiency type B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7193 MOCS2 is_implicated_in DOID:0111163 molybdenum cofactor deficiency type B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10053004 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25133 MARS2 is_implicated_in DOID:0111468 combined oxidative phosphorylation deficiency 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:8986 narcolepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25574827 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 is_implicated_in DOID:0070218 familial hyperinsulinemic hypoglycemia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29068 KATNIP is_implicated_in DOID:0110995 Joubert syndrome 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22504457 20160927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4323 GLO1 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20185929 20130415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:11949 Creutzfeldt-Jakob disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_implicated_in DOID:11166 Human papillomavirus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31177386 20200818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18324 HSD3B7 is_implicated_in DOID:0111071 congenital bile acid synthesis defect 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6442 KRT5 is_implicated_in DOID:0060256 Dowling-Degos disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221005 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32454047 20200623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6848 MAP3K1 is_implicated_in DOID:0111769 46,XY sex reversal 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26406947 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16051638 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30106268 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5042 HNRNPH2 is_implicated_in DOID:0060309 syndromic X-linked intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20846430 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10531147 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_implicated_in DOID:0110964 brachydactyly type A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18629882 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_implicated_in DOID:0110964 brachydactyly type A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19277064 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_implicated_in DOID:0110964 brachydactyly type A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19464397 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_implicated_in DOID:0110964 brachydactyly type A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25696018 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_implicated_in DOID:0110964 brachydactyly type A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12384778 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_implicated_in DOID:0110964 brachydactyly type A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12525541 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_implicated_in DOID:0110964 brachydactyly type A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16871364 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_implicated_in DOID:0110964 brachydactyly type A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_implicated_in DOID:0110964 brachydactyly type A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11455389 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22795294 20121018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23940648 20231215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25366762 20231215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:0110957 Gaucher's disease type I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5246 HSPB1 is_implicated_in DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18199088 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 is_implicated_in DOID:0111462 cardiofaciocutaneous syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4861 HELLS is_implicated_in DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15048091 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7225 MPZ is_implicated_in DOID:0110152 Charcot-Marie-Tooth disease type 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33076381 20230830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14027 MRPL39 is_implicated_in DOID:0060286 combined oxidative phosphorylation deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6954 MCPH1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23296058 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4415 GNMT is_implicated_in DOID:0111037 glycine N-methyltransferase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16333313 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10720475 20110906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17403576 20110906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 is_implicated_in DOID:0070038 autosomal dominant intellectual developmental disorder 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6243 KCNE3 is_implicated_in DOID:0110223 Brugada syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23827458 20140113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23206929 20140113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28949 IQCB1 is_implicated_in DOID:14791 Leber congenital amaurosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21901789 20161003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28949 IQCB1 is_implicated_in DOID:14791 Leber congenital amaurosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21220633 20161003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:0111162 epidermal nevus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1867200 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16796766 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17926179 20160412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0111783 otopalatodigital syndrome type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0111783 otopalatodigital syndrome type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12612583 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28871 IER2 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34311674 20220816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:3082 interstitial lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12528118 20100913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12774051 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_not_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19258483 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6383 KNG1 is_implicated_in DOID:14735 hereditary angioedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210616 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4421 GNRHR is_implicated_in DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4421 GNRHR is_implicated_in DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17235395 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19331 MMAB is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12471062 20070308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11378836 20070510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3662 FGB is_implicated_in DOID:2236 congenital afibrinogenemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3662 FGB is_implicated_in DOID:2236 congenital afibrinogenemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12393540 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17967 IRAK4 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_implicated_in DOID:2383 neonatal jaundice ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24460025 20151218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6240 KCNE1 is_implicated_in DOID:0110647 long QT syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_not_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16458924 20061115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6876 MAPK14 is_implicated_in DOID:1993 rectum cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23859041 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5948 IGSF1 is_implicated_in DOID:0111140 IGSF1 deficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10892 hypospadias ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21300689 20170313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21320968 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22605916 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19373106 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19503743 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23378724 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21212179 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:13258 typhoid fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11120931 20200716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11854392 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5965 IL10RB is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19409109 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18365 IFNL3 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18365 IFNL3 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25864220 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18365 IFNL3 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24522196 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18692934 20090526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7121 MKS1 is_implicated_in DOID:0110997 Joubert syndrome 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28613 MEI1 is_implicated_in DOID:3590 gestational trophoblastic neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190612 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16579981 20061019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16979405 20061019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9517617 20111114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6029 IL9 is_implicated_in DOID:1273 respiratory syncytial virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20503287 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17107905 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10627122 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:1474 aggressive periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28662328 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4795 H6PD is_implicated_in DOID:0090139 cortisone reductase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12858176 20070518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:4511 breast angiosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32123305 20220310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4208 GCSH is_implicated_in DOID:0070330 multiple mitochondrial dysfunctions syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230712 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5125 HOXC13 is_implicated_in DOID:0111656 ectodermal dysplasia 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:162 cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12552971 20190920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20508602 20170320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10485461 20130116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14074 FMN2 is_implicated_in DOID:0081211 autosomal recessive intellectual developmental disorder 47 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28452232 20200228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15009387 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6171 ITK is_implicated_in DOID:0060707 lymphoproliferative syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4277 GJA3 is_implicated_in DOID:0110253 cataract 14 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 is_implicated_in DOID:0080652 calcium oxalate nephrolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19616291 20130115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:888 KIF1A is_implicated_in DOID:0050548 hereditary sensory neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21820098 20170710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:888 KIF1A is_implicated_in DOID:0050548 hereditary sensory neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25265257 20170710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:0090043 dystonia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9647318 20230728 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:0090043 dystonia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230728 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31371 GPR179 is_implicated_in DOID:0110869 congenital stationary night blindness 1E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3788 FOLH1 is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18635682 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6847 MAP2K7 is_implicated_in DOID:3905 lung carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27028764 20220923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21729529 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11553769 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11906705 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12628721 20170302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18926329 20170302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22224630 20170302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:0080179 haemophilus meningitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8648541 20160316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3666 FGF10 is_implicated_in DOID:0111549 aplasia of lacrimal and salivary glands ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32867456 20211105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:8692 myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20843134 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_not_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16886838 20061117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30391 IFT172 is_implicated_in DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10666194 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14607752 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4507 GABBR2 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4507 GABBR2 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19763258 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4288 GJB6 is_implicated_in DOID:0110565 autosomal dominant nonsyndromic deafness 3B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22123287 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23484707 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11380443 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20683151 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23053942 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:14118 familial lipoprotein lipase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:14118 familial lipoprotein lipase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9973300 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:14118 familial lipoprotein lipase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1907278 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:14118 familial lipoprotein lipase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16431216 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0050860 colorectal adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20375710 20131216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4136 GAMT is_implicated_in DOID:0050799 guanidinoacetate methyltransferase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19251436 20100319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7108 MKKS is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10973251 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3756 FLNC is_implicated_in DOID:0110327 hypertrophic cardiomyopathy 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16731854 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12021143 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18769865 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17728790 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6954 MCPH1 is_not_implicated_in DOID:10907 microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19267414 20170718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4172 GATA3 is_implicated_in DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15571801 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7604266 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12746412 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4688 GUCY2C is_implicated_in DOID:0060780 congenital diarrhea 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190904 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_not_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24510573 20190506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:3911 progeria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12702809 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:3911 progeria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15286156 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:3911 progeria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12768443 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:3911 progeria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:3911 progeria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19875478 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6285 KCNMB1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16293791 20061019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19125193 20090722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:0050083 Keshan disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21055077 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:1210 optic neuritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19286687 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27257426 20200218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:9182 pemphigus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9347787 20201118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:9182 pemphigus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18780165 20201118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29358886 20190920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20634891 20170228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15461 MANF is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8971156 20070122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27429592 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19466545 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4570 GRHPR is_implicated_in DOID:2977 primary hyperoxaluria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10484776 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9184650 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:0060704 lymphoproliferative syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25700262 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21640045 20110826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 is_implicated_in DOID:0111557 Charcot-Marie-Tooth disease type 2A2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:0080750 erythema nodosum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19225544 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6367 KLK6 is_implicated_in DOID:3213 demyelinating disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12023317 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21640045 20110826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:2339 Crouzon syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7874170 20221130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:2339 Crouzon syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11711827 20221130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:2339 Crouzon syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11380921 20221130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:2339 Crouzon syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:2339 Crouzon syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7987400 20221130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5381 IDE is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16380485 20070820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19752172 20131216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_implicated_in DOID:0060246 MASA syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7920660 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_implicated_in DOID:0060246 MASA syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_implicated_in DOID:0060246 MASA syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9643285 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_implicated_in DOID:0060246 MASA syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8786080 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7001 MEIS2 is_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29452408 20221020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7128 MLH3 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29516665 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7128 MLH3 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12148 alveolar echinococcosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9756400 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14202 JPH2 is_implicated_in DOID:0081161 dilated cardiomyopathy 2E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210908 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_implicated_in DOID:1229 paranoid schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23893339 20130828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16063 MLLT10 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4379 GNA11 is_implicated_in DOID:0060701 familial hypocalciuric hypercalcemia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15004265 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:853 polymyalgia rheumatica ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30657865 20190906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10803682 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21040557 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6296 KCNQ2 is_implicated_in DOID:14264 benign neonatal seizures ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3969 FSHR is_implicated_in DOID:14450 46 XX gonadal dysgenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7553856 20070412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6116 IRF1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11069564 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21989859 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26223426 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20721916 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25639775 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21167764 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20669305 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21159540 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21954089 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3756 FLNC is_implicated_in DOID:0111190 distal myopathy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13339 KIF4A is_implicated_in DOID:0112040 non-syndromic X-linked intellectual disability 100 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1495 cystic echinococcosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22308705 20200724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6696 LRP4 is_implicated_in DOID:0060757 sclerosteosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16868893 20111110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12050214 20111110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:1727 retinal vein occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12928694 20140707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12412731 20061104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7458 MT-ND3 is_implicated_in DOID:3652 Leigh disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14705112 20120208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6196 JARID2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22681640 20140924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7060 MGP is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11073842 20061111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6413 KRT10 is_implicated_in DOID:4603 epidermolytic hyperkeratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6413 KRT10 is_implicated_in DOID:4603 epidermolytic hyperkeratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7512983 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14511 MRPS25 is_implicated_in DOID:0112111 combined oxidative phosphorylation deficiency 50 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200930 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16493118 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:0050426 Stevens-Johnson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19018717 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:0050426 Stevens-Johnson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23692434 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3771 FMO3 is_implicated_in DOID:0080361 trimethylaminuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:1037 lymphoid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22537952 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:11714 gestational diabetes ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16752173 20081105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6240 KCNE1 is_implicated_in DOID:2843 long QT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19695459 20170621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6240 KCNE1 is_implicated_in DOID:2843 long QT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9445165 20170621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6240 KCNE1 is_implicated_in DOID:2843 long QT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15840476 20170621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15533721 20110912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16459141 20061026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6486 LAMB1 is_implicated_in DOID:0112230 lissencephaly 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21957 KCTD7 is_implicated_in DOID:0111446 progressive myoclonus epilepsy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:0110757 type 1 diabetes mellitus 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_implicated_in DOID:11714 gestational diabetes ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16752173 20081105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_implicated_in DOID:11714 gestational diabetes ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8495817 20081105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:2272 vulvovaginal candidiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17470593 20140718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_implicated_in DOID:9408 acute myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20227257 20230823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26604430 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6601 LIG4 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23663450 20170714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:574 peripheral nervous system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21435719 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27049718 20211130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29121062 20211130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26624 KDF1 is_implicated_in DOID:0111652 ectodermal dysplasia 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9655 oral mucosa leukoplakia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18507060 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6715 LTBP2 is_implicated_in DOID:0060305 megalocornea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22025892 20230307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6562 LGALS2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15129282 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6562 LGALS2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24054 KNL1 is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22983954 20141216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:13404 uveoparotid fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21565911 20110811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:639 acute disseminated encephalomyelitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22786832 20200717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:639 acute disseminated encephalomyelitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19722042 20200717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3663 FGD1 is_implicated_in DOID:0050776 non-syndromic X-linked intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11940089 20161019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_implicated_in DOID:635 acquired immunodeficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19030725 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:4480 achondroplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8078586 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:4480 achondroplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:4480 achondroplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10377013 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_not_implicated_in DOID:1037 lymphoid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15217834 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6601 LIG4 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12471202 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6601 LIG4 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17582 KAT6B is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23800003 20141125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:161 keratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14580687 20140827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9635959 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B is_not_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26084639 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5358 IRF8 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27021335 20230725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11454644 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11482129 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3748 FLG is_implicated_in DOID:1702 ichthyosis vulgaris ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16444271 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3748 FLG is_implicated_in DOID:1702 ichthyosis vulgaris ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22404659 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16538183 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:37189 MIRLET7BHG is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26199339 20220708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11840488 20070816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1346144 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:0060284 paroxysmal nocturnal hemoglobinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12070003 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28093084 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20458443 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:1586 rheumatic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15789899 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:1586 rheumatic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17559688 20210618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26938 HIKESHI is_implicated_in DOID:0060795 hypomyelinating leukodystrophy 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5213 HSD17B4 is_implicated_in DOID:0050857 Perrault syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19337797 20090626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8631631 20131209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:14067 Plasmodium falciparum malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19635899 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4272 GIT1 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21499268 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4951 HLA-DRB3 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11678832 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5031 HNRNPA1 is_implicated_in DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16636 KIF1B is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27122668 20170206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18865 KCNT1 is_implicated_in DOID:0080439 developmental and epileptic encephalopathy 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:0060901 lymphoplasmacytic lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19573080 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:888 KIF1A is_implicated_in DOID:0070039 NESCAV syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4964 HLA-G is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19775370 20110729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4400 GNB3 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11230982 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4400 GNB3 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10526907 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 is_implicated_in DOID:5016 hepatocellular clear cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25355558 20190919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 is_implicated_in DOID:5016 hepatocellular clear cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28403884 20190919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19196818 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:3388 periodontal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19017034 20090526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:3388 periodontal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17286759 20090526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14607793 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_not_implicated_in DOID:4186 articulation disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20923434 20160927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4214 GDF1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23076529 20230412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4214 GDF1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26656983 20230412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6947 MCM4 is_implicated_in DOID:0111967 immunodeficiency 54 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18871 MMAA is_implicated_in DOID:0060742 methylmalonic acidemia cblA type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_implicated_in DOID:0080798 myeloid leukemia associated with Down Syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14636651 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:5773 oral submucous fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22752755 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS is_implicated_in DOID:0111431 essential tremor 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16697311 20061104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10194421 20061104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31863692 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6052 IMPDH1 is_implicated_in DOID:0110216 Leber congenital amaurosis 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16882 HCN4 is_implicated_in DOID:1827 idiopathic generalized epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19027 LRRC8A is_implicated_in DOID:0080588 agammaglobulinemia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_implicated_in DOID:4990 essential tremor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18543121 20111102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19181 KIF14 is_implicated_in DOID:0050778 Meckel syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21458191 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19371834 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26997531 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_not_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12928861 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24365177 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17467893 20080215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3647 FECH is_implicated_in DOID:13270 erythropoietic protoporphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190822 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3647 FECH is_implicated_in DOID:13270 erythropoietic protoporphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26280465 20190822 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3647 FECH is_implicated_in DOID:13270 erythropoietic protoporphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26789144 20190822 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3647 FECH is_implicated_in DOID:13270 erythropoietic protoporphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10942404 20190822 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:10976 membranous glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21323541 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_not_implicated_in DOID:9452 steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12105842 20070420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_not_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22294627 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27429592 20190710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27470888 20190710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29341496 20190710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4378 GMPS is_implicated_in DOID:0081082 acute myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11110714 20070110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7215 MPHOSPH9 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19879194 20100308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3496 MPZL2 is_implicated_in DOID:0111640 autosomal recessive nonsyndromic deafness 111 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1210 optic neuritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9006417 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7224 MPV17 is_implicated_in DOID:0111559 Charcot-Marie-Tooth disease type 2EE ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190515 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6140 ITGA4 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772397 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:4440 seminoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8816895 20091208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18199088 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32004086 20220415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9716140 20110304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:9146 visceral leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17357060 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:9146 visceral leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26297290 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:9146 visceral leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22995279 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4824 HBA2 is_implicated_in DOID:1099 alpha thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:6490612 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4824 HBA2 is_implicated_in DOID:1099 alpha thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3680504 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4824 HBA2 is_implicated_in DOID:1099 alpha thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24829075 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4824 HBA2 is_implicated_in DOID:1099 alpha thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9604545 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4824 HBA2 is_implicated_in DOID:1099 alpha thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:4006915 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4824 HBA2 is_implicated_in DOID:1099 alpha thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10378 MRPL12 is_implicated_in DOID:0112113 combined oxidative phosphorylation deficiency 45 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200812 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:8483 retinal artery occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15604420 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24101602 20180907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19154537 20180907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24024195 20200717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28612994 20200717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19230186 20200717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22562547 20131211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28368861 20190711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:0050827 rheumatic heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29029143 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:0050827 rheumatic heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17559688 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22962 MED13L is_implicated_in DOID:0060770 dextro-looped transposition of the great arteries ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14638541 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:11394 adult respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19526221 20101101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28303994 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18573122 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14373 GLMN is_implicated_in DOID:2431 glomus tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11845407 20070110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:888 KIF1A is_implicated_in DOID:0070147 hereditary sensory neuropathy type 2C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23278642 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8692 myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11906705 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8692 myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16313269 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12744 MLXIPL is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21726544 20230831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12744 MLXIPL is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19571538 20230831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12744 MLXIPL is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25179879 20230831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21913997 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10887320 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23317483 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21653279 20131108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6903 MAT1A is_implicated_in DOID:0050544 hypermethioninemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6903 MAT1A is_implicated_in DOID:0050544 hypermethioninemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9042912 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5209 HSD11B2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9683587 20070518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:0050868 hepatocellular adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17663417 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:0050868 hepatocellular adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12355088 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:0050868 hepatocellular adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14598263 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18484687 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19288449 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16221721 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19842992 20110916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6954 MCPH1 is_implicated_in DOID:10907 microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12046007 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 is_implicated_in DOID:6612 leukocyte adhesion deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1968911 20120419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 is_implicated_in DOID:6612 leukocyte adhesion deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21103413 20120419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 is_implicated_in DOID:6612 leukocyte adhesion deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20549317 20120419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 is_implicated_in DOID:6612 leukocyte adhesion deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10886250 20120419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 is_implicated_in DOID:6612 leukocyte adhesion deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14512306 20120419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6458 KRT81 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32678982 20230119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_not_implicated_in DOID:9255 frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17386961 20140210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18579366 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15766560 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5172 HR is_implicated_in DOID:0060689 atrichia with papular lesions ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5974 IL13RA1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17392323 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5974 IL13RA1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10686479 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:2938 Epstein-Barr virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11401923 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:11123 Henoch-Schoenlein purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25232290 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:11123 Henoch-Schoenlein purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20602240 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:11123 Henoch-Schoenlein purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22451026 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16873 FIG4 is_implicated_in DOID:0060589 Yunis-Varon syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21741664 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15201511 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21908482 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20463743 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25126700 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20946167 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17122425 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6954 MCPH1 is_implicated_in DOID:0070285 primary autosomal recessive microcephaly 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15199523 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6954 MCPH1 is_implicated_in DOID:0070285 primary autosomal recessive microcephaly 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6833 MAOA is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15900229 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6654 LMX1B is_implicated_in DOID:9467 nail-patella syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15498463 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6654 LMX1B is_implicated_in DOID:9467 nail-patella syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6654 LMX1B is_implicated_in DOID:9467 nail-patella syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9590287 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24593045 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23758905 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6329 KIR2DL1 is_implicated_in DOID:635 acquired immunodeficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29461980 20200917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 is_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12522251 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 is_implicated_in DOID:0110910 leukocyte adhesion deficiency 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 is_implicated_in DOID:0110910 leukocyte adhesion deficiency 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20549317 20210701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28442395 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5422 IFNA17 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15004750 20200728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18874 LAT is_implicated_in DOID:0111983 immunodeficiency 52 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6698 LRP6 is_implicated_in DOID:0050591 tooth agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6023 IL7 is_implicated_in DOID:13777 epidermodysplasia verruciformis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17556058 20110303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29525679 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23064 GSTO2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14570706 20110914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23064 GSTO2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17194543 20110914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15710 LDB3 is_implicated_in DOID:11720 distal myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17337483 20170309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0060500 drug allergy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11007341 20110926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:417 autoimmune disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19210322 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:417 autoimmune disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21744463 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10923 sickle cell anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19254255 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29112 IQSEC1 is_implicated_in DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22852128 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17091279 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23996716 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3122 LEFTY2 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25111179 20230828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4704 GYPC is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:9415 allergic asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22397267 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4868 HERC2 is_implicated_in DOID:0081203 autosomal recessive intellectual developmental disorder 38 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15073597 20080417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_not_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28442395 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5302 HTR7 is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21184583 20120413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 is_implicated_in DOID:1742 drug psychosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27967329 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4278 GJA4 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16677656 20070813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4278 GJA4 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15059615 20070813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6021 IL6ST is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17664290 20070817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16961137 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31527 MIR140 is_implicated_in DOID:0112288 spondyloepiphyseal dysplasia Nishimura type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7638860 20200724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:409 liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12297838 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25324972 20160804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20368543 20160804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6511 LARGE1 is_implicated_in DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25051072 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22677268 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15346351 20070216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:1098 fetal erythroblastosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19129718 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:0112182 mismatch repair cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:0060496 respiratory allergy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16487239 20140718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15710 LDB3 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14660611 20170309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15710 LDB3 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20852297 20170309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28956 GPD1L is_implicated_in DOID:0110219 Brugada syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15889 FERMT1 is_implicated_in DOID:0060472 Kindler syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 is_implicated_in DOID:0050793 short QT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4247 GGCX is_implicated_in DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4247 GGCX is_implicated_in DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15287948 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4247 GGCX is_implicated_in DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16720838 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG is_implicated_in DOID:8927 learning disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24489960 20170301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:853 polymyalgia rheumatica ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12375325 20140722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:4247 coronary restenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15790942 20061102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6024 IL7R is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29755661 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18652916 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16523426 20061130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16510 FBXO31 is_implicated_in DOID:0081209 autosomal recessive intellectual developmental disorder 45 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4579 GRIK1 is_implicated_in DOID:1825 childhood absence epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9259378 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6263 KCNJ2 is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29121062 20211130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6005 IL21 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25892873 20210617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:11870 Pick's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_implicated_in DOID:0112161 Noonan syndrome 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:0080599 Coronavirus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15838797 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6116 IRF1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10395927 20070226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10435723 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0111782 otopalatodigital syndrome spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15654694 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:4927 Klatskin's tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33387086 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A is_implicated_in DOID:0110763 hereditary spastic paraplegia 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26374131 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A is_implicated_in DOID:0110763 hereditary spastic paraplegia 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18245137 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A is_implicated_in DOID:0110763 hereditary spastic paraplegia 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24939576 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A is_implicated_in DOID:0110763 hereditary spastic paraplegia 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12355402 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A is_implicated_in DOID:0110763 hereditary spastic paraplegia 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25352184 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A is_implicated_in DOID:0110763 hereditary spastic paraplegia 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15452312 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A is_implicated_in DOID:0110763 hereditary spastic paraplegia 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6295 KCNQ1OT1 is_implicated_in DOID:5572 Beckwith-Wiedemann syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28157558 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4393 GNAT1 is_implicated_in DOID:8499 night blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8673138 20070111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:0110960 Gaucher's disease perinatal lethal ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20848524 20110829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19915573 20110829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6871 MAPK1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22517515 20180124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 is_implicated_in DOID:3490 Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31825158 20220415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 is_implicated_in DOID:3490 Noonan syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30872527 20220415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24120392 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS is_implicated_in DOID:0060198 amyotrophic lateral sclerosis type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS is_implicated_in DOID:0060198 amyotrophic lateral sclerosis type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19251628 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5423 IFNA2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29080269 20200310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20858521 20110812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12270547 20110812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20510319 20110812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 is_implicated_in DOID:9245 Alagille syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21714972 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 is_implicated_in DOID:9245 Alagille syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11182227 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10573514 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15763345 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17050030 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31164891 20210928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12137326 20111110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15910853 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:3770 pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17056243 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:3770 pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10934117 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5297 HTR3A is_implicated_in DOID:9778 irritable bowel syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21420406 20120329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6323 KIF5A is_implicated_in DOID:0081379 amyotrophic lateral sclerosis type 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28101643 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19428374 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31538 MIR152 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25261463 20200207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B is_implicated_in DOID:2219 Glanzmann's thrombasthenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7529063 20220427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B is_implicated_in DOID:2219 Glanzmann's thrombasthenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8111043 20220427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B is_implicated_in DOID:2219 Glanzmann's thrombasthenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4318 GLI2 is_implicated_in DOID:0080328 Culler-Jones syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3233 MEGF8 is_implicated_in DOID:0060234 Carpenter syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5988 IL18R1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19910030 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5988 IL18R1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18382474 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5988 IL18R1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20860503 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5988 IL18R1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18774397 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5970 IL12B is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12241719 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5970 IL12B is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15322986 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5970 IL12B is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16210052 20101104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8567 Hodgkin's lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21916526 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4583 GRIK5 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28900078 20231109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6518 LBR is_implicated_in DOID:9631 Pelger-Huet anomaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12118250 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6518 LBR is_implicated_in DOID:9631 Pelger-Huet anomaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14617022 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6518 LBR is_implicated_in DOID:9631 Pelger-Huet anomaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33665490 20220215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14866 HHIP is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25928290 20161012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14866 HHIP is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19996190 20161012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:0060473 Kabuki syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221013 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:0060473 Kabuki syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26300940 20221013 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:0060473 Kabuki syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24633898 20221013 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22981956 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3808 FOXE3 is_implicated_in DOID:0060648 anterior segment dysgenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11159941 20070108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33425 MIAT is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5965 IL10RB is_implicated_in DOID:0110909 inflammatory bowel disease 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11645 MLX is_implicated_in DOID:2508 Takayasu's arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30354298 20230918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11645 MLX is_implicated_in DOID:2508 Takayasu's arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23830516 20230918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:0070004 myeloid neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27077777 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23776381 20140707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12540964 20140707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8228210 20070802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7606649 20070802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18986 GBA2 is_implicated_in DOID:0110798 hereditary spastic paraplegia 46 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4288 GJB6 is_implicated_in DOID:0110475 autosomal recessive nonsyndromic deafness 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15802 GATA5 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22961344 20221005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6482 LAMA2 is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7550355 20070302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16698387 20121031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19489682 20121031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16841 LITAF is_implicated_in DOID:0110151 Charcot-Marie-Tooth disease type 1C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 is_implicated_in DOID:0070481 schwannomatosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19349 KIF21A is_implicated_in DOID:0081015 congenital fibrosis of the extraocular muscles 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19349 KIF21A is_implicated_in DOID:0081015 congenital fibrosis of the extraocular muscles 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14595441 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:986 alopecia areata ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16231148 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_not_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19060265 20140312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5004 HMGB3 is_implicated_in DOID:0111811 syndromic microphthalmia 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4887 HJV is_implicated_in DOID:0111027 hemochromatosis type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28486 MFSD8 is_implicated_in DOID:0110722 neuronal ceroid lipofuscinosis 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7102 MINPP1 is_implicated_in DOID:0112333 pontocerebellar hypoplasia type 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211006 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13013 KAT6A is_implicated_in DOID:0070062 Arboleda-Tham syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4576 GRID2 is_implicated_in DOID:0080042 autosomal recessive spinocerebellar ataxia 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11957 MED12 is_implicated_in DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17369503 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11957 MED12 is_implicated_in DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6929 MC1R is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8894704 20120627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6929 MC1R is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17434924 20120627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5384 IDH3A is_implicated_in DOID:0112147 retinitis pigmentosa 90 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200930 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_implicated_in DOID:13564 aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16893395 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19025430 20110322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16886896 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26909940 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:13608 biliary atresia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18401716 20190528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23791 INF2 is_implicated_in DOID:0111130 focal segmental glomerulosclerosis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_not_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15006930 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4312 GCLM is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12070246 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4685 GUCY1A1 is_implicated_in DOID:13099 Moyamoya disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:633 myositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16609350 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:633 myositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17586554 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:633 myositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21125283 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11957090 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16273625 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1427788 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15112335 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16270381 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16886896 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8453633 20151116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10923 sickle cell anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23049400 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3800 FOXC1 is_implicated_in DOID:0110122 Axenfeld-Rieger syndrome type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10457895 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19908388 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18010 GDAP2 is_implicated_in DOID:0111616 autosomal recessive spinocerebellar ataxia 27 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7327 MSH4 is_implicated_in DOID:5426 primary ovarian insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220720 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10960630 20200727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18299791 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19258483 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:76 stomach disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20405713 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23617596 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:10629 microphthalmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28111184 20170320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4847 HCRT is_not_implicated_in DOID:8986 narcolepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11723284 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20105 FLVCR2 is_implicated_in DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5212 HSD17B3 is_implicated_in DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4174 GATA6 is_implicated_in DOID:4927 Klatskin's tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33387086 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6913 MAX is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24362264 20181005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4174 GATA6 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20631719 20170818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19610067 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_implicated_in DOID:583 hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16637741 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0040091 autoimmune pancreatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18155707 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6490 LAMB3 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12855645 20181003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6909 MATN3 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15099346 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11916946 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33004870 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1474 aggressive periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17524385 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6235 KCNC3 is_implicated_in DOID:0050963 spinocerebellar ataxia type 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7461 MT-ND5 is_implicated_in DOID:3652 Leigh disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18495510 20110930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7391 MSX1 is_implicated_in DOID:0080399 orofacial cleft 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13718 FOSL1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28169308 20220826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21535077 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5298 HTR3B is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20838391 20120329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15327519 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20953611 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18426658 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24758241 20191014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30892 HUWE1 is_implicated_in DOID:0060811 syndromic X-linked intellectual disability Turner type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190515 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:10933 obsessive-compulsive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8832771 20170201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5320 HYAL1 is_implicated_in DOID:12798 mucopolysaccharidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10339581 20070215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27310 FLCN is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_not_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30380970 20210506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 is_implicated_in DOID:2920 membranoproliferative glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:11394 adult respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17133182 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_not_implicated_in DOID:3261 hyper IgE recurrent infection syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9537881 20160818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9834266 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21719445 20130128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2799 GRHL2 is_implicated_in DOID:0110557 autosomal dominant nonsyndromic deafness 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12393799 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2799 GRHL2 is_implicated_in DOID:0110557 autosomal dominant nonsyndromic deafness 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3767 FLT4 is_implicated_in DOID:0070210 hereditary lymphedema IA ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26361 HEPACAM is_implicated_in DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31708 LRP12 is_implicated_in DOID:0081297 oculopharyngodistal myopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200722 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19747638 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16409297 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:10983 Alport syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15182324 20131017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17565649 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26604430 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20498198 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6317 KIF1C is_implicated_in DOID:0050941 spastic ataxia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6144 ITGA8 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18277079 20130903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6412 KRT1 is_implicated_in DOID:0081358 epidermolytic hyperkeratosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230517 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17582 KAT6B is_implicated_in DOID:127 leiomyoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15313893 20141125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30168489 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20718347 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17845309 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16014702 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12297 Vogt-Koyanagi-Harada disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20216938 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12297 Vogt-Koyanagi-Harada disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9548078 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12297 Vogt-Koyanagi-Harada disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10527396 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12297 Vogt-Koyanagi-Harada disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15603876 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B is_implicated_in DOID:0060691 platelet-type bleeding disorder 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B is_implicated_in DOID:0060691 platelet-type bleeding disorder 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21029361 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B is_implicated_in DOID:0060691 platelet-type bleeding disorder 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19691478 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B is_implicated_in DOID:0060691 platelet-type bleeding disorder 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22394243 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6009 IL2RB is_implicated_in DOID:0111997 immunodeficiency 63 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190731 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29347 KLHL15 is_implicated_in DOID:0112020 non-syndromic X-linked intellectual disability 103 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22653583 20210816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_implicated_in DOID:9955 hypoplastic left heart syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11470490 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:888 KIF1A is_implicated_in DOID:0110781 hereditary spastic paraplegia 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:888 KIF1A is_implicated_in DOID:0110781 hereditary spastic paraplegia 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22258533 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:888 KIF1A is_implicated_in DOID:0110781 hereditary spastic paraplegia 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21487076 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15865 KIZ is_implicated_in DOID:0110410 retinitis pigmentosa 69 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:9675 pulmonary emphysema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17363767 20101215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:988 mitral valve prolapse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24243761 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10445390 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27893202 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26406947 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_not_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26348711 20170628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25169 GPRASP2 is_implicated_in DOID:0111738 X-linked deafness 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200325 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4021 KDSR is_implicated_in DOID:0050873 follicular lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8417785 20070110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5010 HMGA1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12837270 20121031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17224277 20121031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16766392 20121031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20551628 20121031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9643293 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6176 ITPA is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29441893 20191007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3999 FTL is_implicated_in DOID:0110737 neurodegeneration with brain iron accumulation 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19117339 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3999 FTL is_implicated_in DOID:0110737 neurodegeneration with brain iron accumulation 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17142829 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3999 FTL is_implicated_in DOID:0110737 neurodegeneration with brain iron accumulation 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3999 FTL is_implicated_in DOID:0110737 neurodegeneration with brain iron accumulation 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18854324 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21983832 20111014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10080180 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10814726 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17701980 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12845675 20130116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20303013 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19664521 20100907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15038404 20100907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3778 FN1 is_implicated_in DOID:0112297 spondylometaphyseal dysplasia corner fracture type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27368337 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_not_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10347113 20191010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5996 IL1RAPL1 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16470793 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25576295 20210814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12527400 20181026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22493749 20181026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17928142 20181026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11849775 20181026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21537452 20181026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0060025 immunoglobulin alpha deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10931389 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0060025 immunoglobulin alpha deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22291608 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25970464 20190509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18531 LRRC7 is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17346338 20140227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20499 L2HGDH is_implicated_in DOID:11832 visual epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24894778 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26772723 20230623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20031593 20230623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 is_implicated_in DOID:0050523 adult T-cell leukemia/lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21821710 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_implicated_in DOID:13189 gout ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7281841 20070803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:13550 angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17110919 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:13550 angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23441116 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:13550 angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21655354 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4933 HLA-C is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28244954 20201222 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4933 HLA-C is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201222 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:4959 epidermolysis bullosa dystrophica ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18030675 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:4959 epidermolysis bullosa dystrophica ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6122 IRF7 is_implicated_in DOID:0111969 immunodeficiency 39 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6817 MAL is_implicated_in DOID:10581 metachromatic leukodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15193296 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_implicated_in DOID:2152 ovary epithelial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10690526 20090324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3801 FOXC2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15601967 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:12705 Friedreich ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18807169 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25006 METTL5 is_implicated_in DOID:0080765 autosomal recessive intellectual developmental disorder 72 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191211 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31708 LRP12 is_implicated_in DOID:0081382 amyotrophic lateral sclerosis type 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230809 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4298 GLB1 is_implicated_in DOID:12804 mucopolysaccharidosis IV ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19091613 20170614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4298 GLB1 is_implicated_in DOID:12804 mucopolysaccharidosis IV ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11511921 20170614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:12132 granulomatosis with polyangiitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11838849 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5226 HSF2BP is_implicated_in DOID:0112278 primary ovarian insufficiency 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210414 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23419 KIFBP is_implicated_in DOID:0060481 Goldberg-Shprintzen syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27281273 20231024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0002116 pterygium ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15273656 20131209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3702 FHL1 is_implicated_in DOID:0080687 reducing body myopathy 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16047841 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17565649 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28626742 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26604430 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:0081155 common variable immunodeficiency 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4814 KALRN is_implicated_in DOID:12720 cerebral atherosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30232674 20230719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4976 HLCS is_implicated_in DOID:859 holocarboxylase synthetase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4976 HLCS is_implicated_in DOID:859 holocarboxylase synthetase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12124727 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17153701 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19030725 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21251479 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21507155 20231215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5993 IL1R1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8911996 20090624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5993 IL1R1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11197691 20090624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17870053 20091014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19324017 20140602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12112111 20140602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2018041 20140602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11479733 20140602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20454697 20140602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22577081 20140602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7167 MMP20 is_implicated_in DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15844 HPS4 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23563589 20160726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21235536 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15483090 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4221 GDF6 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18716610 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3687 FGF9 is_implicated_in DOID:0081319 multiple synostoses syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30391 IFT172 is_implicated_in DOID:0081009 Bardet-Biedl syndrome 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210818 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4943 HLA-DQA2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20159242 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6971 MDH2 is_implicated_in DOID:0080433 developmental and epileptic encephalopathy 51 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5233 HSPA1B is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11319647 20070814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9886 KDM5A is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24069348 20141030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20973705 20110829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6836 MAP1B is_implicated_in DOID:0050564 autosomal dominant nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220413 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6388 KIF11 is_implicated_in DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17259403 20231101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19498446 20231101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19502414 20231101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:8986 narcolepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11179016 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20499 L2HGDH is_implicated_in DOID:0050753 cerebellar ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24573090 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6501 LAMP2 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15673802 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6501 LAMP2 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16144992 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23151 FERMT3 is_implicated_in DOID:0110910 leukocyte adhesion deficiency 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19064721 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11307152 20160401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6132 ISL1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15161765 20090625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_not_implicated_in DOID:3744 cervical squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11605053 20200811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6462 KRT85 is_implicated_in DOID:0111658 ectodermal dysplasia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5950 IGSF3 is_implicated_in DOID:13929 lacrimal duct obstruction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23991983 20211221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24965397 20211221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25676 GORAB is_implicated_in DOID:0111266 geroderma osteodysplasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26361 HEPACAM is_implicated_in DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18427198 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15300848 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21051083 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11075422 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 is_implicated_in DOID:0111273 NARP syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11843698 20110912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14049 MRPS14 is_implicated_in DOID:0111466 combined oxidative phosphorylation deficiency 38 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16205 MGME1 is_implicated_in DOID:0080129 mitochondrial DNA depletion syndrome 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5022 FOXA2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18797817 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5022 FOXA2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11043867 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22883484 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11477481 20230922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32034489 20230922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4066 GAB1 is_implicated_in DOID:0110484 autosomal recessive nonsyndromic deafness 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4419 GNRH1 is_implicated_in DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19535795 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4419 GNRH1 is_implicated_in DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19567835 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4419 GNRH1 is_implicated_in DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4419 GNRH1 is_implicated_in DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23936060 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19796822 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 is_implicated_in DOID:0060484 EAST syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 is_implicated_in DOID:0060484 EAST syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19420365 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:0080770 autosomal dominant beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18264096 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10202362 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15853900 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16112029 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:4467 clear cell renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10383153 20121017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3702 FHL1 is_implicated_in DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200401 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6487 LAMB2 is_implicated_in DOID:0080380 nephrotic syndrome type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9479 LONP1 is_implicated_in DOID:0111274 CODAS syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:4780 anti-basement membrane glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19946017 20111014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6365 KLK4 is_implicated_in DOID:0110057 amelogenesis imperfecta type 2A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:0050144 Kartagener syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24753481 20170626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4588 GRIN2D is_implicated_in DOID:0080456 developmental and epileptic encephalopathy 46 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31542 MIR155 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28101643 20200331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20542754 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_not_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29715107 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_implicated_in DOID:8929 atrophic gastritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20721625 20210513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6623 LIPG is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17526978 20070822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15531531 20090724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_implicated_in DOID:13141 uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21844150 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5439 IFNGR1 is_implicated_in DOID:0111956 immunodeficiency 27B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4390 GNAQ is_not_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17720980 20210419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:0050465 Muir-Torre syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21474 INPP5E is_implicated_in DOID:0050777 Joubert syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23386033 20170706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:2671 transitional cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19303097 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19834503 20110907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10527398 20110907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17660530 20110907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6700 LRP8 is_implicated_in DOID:1307 dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17614163 20120511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 is_implicated_in DOID:0080299 partial lipodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_implicated_in DOID:0050433 fatal familial insomnia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29216791 20210514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:0080041 hypochondroplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18583390 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:0080041 hypochondroplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29149205 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24407110 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31977279 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:74 hematopoietic system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18540691 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21176116 20110922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20674822 20110922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28035729 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25202455 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33004870 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16420246 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9653015 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15175864 20061031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6215 KARS1 is_implicated_in DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2235 KLF6 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26909998 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27660094 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19565552 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16636 KIF1B is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20502484 20170206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5181 HRG is_implicated_in DOID:0111903 thrombophilia due to HRG deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24375038 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12406553 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29659 MESP2 is_implicated_in DOID:0112362 spondylocostal dysostosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4226 GDI1 is_implicated_in DOID:0050776 non-syndromic X-linked intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9620768 20170818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4226 GDI1 is_implicated_in DOID:0050776 non-syndromic X-linked intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9668174 20170818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6254 KCNH5 is_implicated_in DOID:0112202 developmental and epileptic encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231018 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:1073 renal hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18194667 20080917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6298 KCNQ4 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10369879 20070306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7105 MITF is_implicated_in DOID:9258 Waardenburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8589691 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10404063 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16500024 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20626741 20160811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2883392 20111114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16873 FIG4 is_implicated_in DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29042702 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29979894 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4042 FZD4 is_implicated_in DOID:0111412 exudative vitreoretinopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12172548 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4042 FZD4 is_implicated_in DOID:0111412 exudative vitreoretinopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27730688 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17985251 20111102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5298 HTR3B is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16487942 20120329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0070202 familial partial lipodystrophy type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG is_implicated_in DOID:12305 Bloch-Sulzberger syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG is_implicated_in DOID:12305 Bloch-Sulzberger syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10839543 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG is_implicated_in DOID:12305 Bloch-Sulzberger syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15833158 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_implicated_in DOID:0050465 Muir-Torre syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:2893 cervix carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11114733 20080215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:2893 cervix carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10471491 20080215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4204 GCNT2 is_implicated_in DOID:0110242 cataract 13 with adult i phenotype ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3775 FMR1 is_implicated_in DOID:0080857 primary ovarian insufficiency 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200219 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6932 MC4R is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12646665 20070326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28980 GINS1 is_implicated_in DOID:0111993 immunodeficiency 55 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4847 HCRT is_implicated_in DOID:8986 narcolepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11148249 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4847 HCRT is_implicated_in DOID:8986 narcolepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4847 HCRT is_implicated_in DOID:8986 narcolepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10973318 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:8568 infectious mononucleosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22537952 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15714 LRPPRC is_implicated_in DOID:3652 Leigh disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12529507 20070322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4444 GP9 is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8972003 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4444 GP9 is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28131619 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4444 GP9 is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3069 malignant astrocytoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12241105 20110902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15968 GDAP1 is_implicated_in DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15968 GDAP1 is_implicated_in DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20232219 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15968 GDAP1 is_implicated_in DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18492089 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4806 HAL is_implicated_in DOID:0060168 histidinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_implicated_in DOID:13042 persistent fetal circulation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32054482 20230620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9659531 20200724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44480 IFNL4 is_implicated_in DOID:635 acquired immunodeficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25658540 20201206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24858 MFF is_implicated_in DOID:936 brain disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6853 MAP3K14 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230802 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR is_implicated_in DOID:0070220 familial hyperinsulinemic hypoglycemia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18983893 20180921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24292895 20180921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16636 KIF1B is_implicated_in DOID:769 neuroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0111505 palmoplantar keratoderma-deafness syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18787097 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0111505 palmoplantar keratoderma-deafness syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18688874 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0111505 palmoplantar keratoderma-deafness syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24975403 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0111505 palmoplantar keratoderma-deafness syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17993581 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0111505 palmoplantar keratoderma-deafness syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21846945 20140328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:252 alcoholic psychosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11842624 20231117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17980001 20140224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26383589 20161109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6309 KERA is_implicated_in DOID:0060287 cornea plana ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7224 MPV17 is_implicated_in DOID:0080125 mitochondrial DNA depletion syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:1240 leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9326218 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4419 GNRH1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17692113 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23278404 20200218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:824 periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17209781 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_implicated_in DOID:350 mastocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9029028 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_implicated_in DOID:350 mastocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28890888 20230623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29154870 20230623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32061761 20230623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21294771 20230623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27282998 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15211631 20231011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21424183 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19882211 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19321798 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6112 IRAK1 is_implicated_in DOID:1580 diffuse scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21898345 20131212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_not_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17873320 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14990915 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15448004 20211007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30651232 20190906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3647 FECH is_implicated_in DOID:13271 cutaneous porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8601739 20070103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4288 GJB6 is_implicated_in DOID:0110476 autosomal recessive nonsyndromic deafness 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21423603 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_implicated_in DOID:0111817 syndactyly type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7391 MSX1 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12807959 20110527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18121 MFRP is_implicated_in DOID:0060837 isolated microphthalmia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19753314 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18121 MFRP is_implicated_in DOID:0060837 isolated microphthalmia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3808 FOXE3 is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2613263 20070803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3990081 20070803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31568 MIR196A2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24248733 20190514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31568 MIR196A2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21692953 20190514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15456 MBTPS1 is_implicated_in DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 is_implicated_in DOID:0110196 Charcot-Marie-Tooth disease type 4G ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29619 MPEG1 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210324 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24615128 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25015414 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7413 MTAP is_implicated_in DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21424 IFT74 is_implicated_in DOID:0112352 spermatogenic failure 58 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1569197 20070522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4456 GPD2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3969 FSHR is_implicated_in DOID:0080493 ovarian dysgenesis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20616161 20180108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6121 IRF6 is_implicated_in DOID:0080593 orofacial cleft 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4138 GANAB is_implicated_in DOID:0050770 polycystic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31462075 20191018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4138 GANAB is_implicated_in DOID:0050770 polycystic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27259053 20191018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:9663 aphthous stomatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28950260 20190906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18728231 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18028455 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18332101 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8945471 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23399 FREM1 is_implicated_in DOID:3827 congenital diaphragmatic hernia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23221805 20161020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27375 MSRB3 is_implicated_in DOID:0110523 autosomal recessive nonsyndromic deafness 74 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL is_implicated_in DOID:2228 thrombocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL is_implicated_in DOID:2228 thrombocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19036112 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:9206 Barrett's esophagus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19321798 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_implicated_in DOID:3390 palmoplantar keratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25168385 20170612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:639 acute disseminated encephalomyelitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15201511 20201119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:639 acute disseminated encephalomyelitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19722042 20201119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:639 acute disseminated encephalomyelitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22786832 20201119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:13258 typhoid fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11120931 20200727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:13258 typhoid fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25383971 20200727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21832969 20111109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6758 MAB21L2 is_implicated_in DOID:12270 coloboma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25719200 20161014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:2913 acute pancreatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27173345 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5163 HPS1 is_implicated_in DOID:0050632 oculocutaneous albinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16185271 20160728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_not_implicated_in DOID:289 endometriosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18285324 20080930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17893005 20140709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16100452 20140709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0060643 primary sclerosing cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30487703 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:0060874 isolated growth hormone deficiency type IB ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17002564 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:0060870 isolated growth hormone deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27114065 20170518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6649 LMOD3 is_implicated_in DOID:0110931 nemaline myopathy 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16135 FITM2 is_implicated_in DOID:0081273 Siddiqi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19702713 20140408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7108 MKKS is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12107442 20061111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19945510 20111017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:57 aortic valve insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18400978 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6143 ITGA7 is_implicated_in DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6700 LRP8 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22419519 20120511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7121 MKS1 is_implicated_in DOID:0110135 Bardet-Biedl syndrome 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6916 MBD1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18668384 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6916 MBD1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16284366 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23302 HKDC1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5099 HOXA1 is_not_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14681917 20161013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16020292 20140113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10383894 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 is_implicated_in DOID:1115 sarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1614537 20100405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0110425 dilated cardiomyopathy 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180919 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6357 KLK1 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11849458 20061024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 is_implicated_in DOID:0050965 spinocerebellar ataxia type 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 is_implicated_in DOID:0050965 spinocerebellar ataxia type 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21555639 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 is_implicated_in DOID:0050965 spinocerebellar ataxia type 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20082166 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24945 GPIHBP1 is_implicated_in DOID:0111420 familial GPIHBP1 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4440 GP1BB is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12945881 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4440 GP1BB is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9116284 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4440 GP1BB is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28131619 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4440 GP1BB is_implicated_in DOID:2217 Bernard-Soulier syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25561764 20210514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25975224 20210514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21724587 20210514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6408 MAFB is_implicated_in DOID:12557 Duane retraction syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200304 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13178 IKZF3 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210804 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5273 HSPG2 is_implicated_in DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:2988 antiphospholipid syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11157139 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15173029 20081105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1340 pure red-cell aplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18689790 20190412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0050658 Bart-Pumphrey syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0050658 Bart-Pumphrey syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15482471 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180523 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10320 asbestosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9055949 20110920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17022 HPS5 is_implicated_in DOID:3753 Hermansky-Pudlak syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15296495 20160728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 is_implicated_in DOID:77 gastrointestinal system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22331013 20170223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 is_implicated_in DOID:3068 glioblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23917401 20220415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18708391 20090323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6664 LOX is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_not_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20551628 20121025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16176403 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6250 KCNH1 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17289873 20150211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12421502 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12682546 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6483 LAMA3 is_implicated_in DOID:3209 junctional epidermolysis bullosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6483 LAMA3 is_implicated_in DOID:3209 junctional epidermolysis bullosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8586427 20220608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8955068 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21283084 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28929 KRT74 is_implicated_in DOID:0111660 ectodermal dysplasia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0110429 dilated cardiomyopathy 1H ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15996167 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0110429 dilated cardiomyopathy 1H ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10432437 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10435723 20190410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:4906 small intestine adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12940438 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:10887 lepromatous leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19698125 20210621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:13141 uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20335604 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5248 HSPB3 is_implicated_in DOID:0111209 autosomal dominant distal hereditary motor neuronopathy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6762 MAD1L1 is_implicated_in DOID:0080688 mosaic variegated aneuploidy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28622513 20220421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18554158 20110304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22155912 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27340680 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27599887 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21535077 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4831 HBG1 is_implicated_in DOID:0080773 delta beta-thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28422712 20231205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_not_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22504457 20160927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7201 MOV10L1 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220518 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21232 MRAP2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23038 LMBRD1 is_implicated_in DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11630 HNF1B is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15883474 20090901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12624497 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5234 HSPA1L is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20498198 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30391 IFT172 is_implicated_in DOID:0110363 retinitis pigmentosa 71 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22991420 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14508706 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:12134 factor VIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9157572 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19263 LMAN2L is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220720 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_implicated_in DOID:13714 anodontia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24351915 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26521 LOXHD1 is_implicated_in DOID:0110525 autosomal recessive nonsyndromic deafness 77 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3671 FGF14 is_implicated_in DOID:1441 autosomal dominant cerebellar ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230104 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 is_not_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23288989 20131029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4626 GSTA1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19786980 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23657 GNE is_implicated_in DOID:3659 sialuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4824 HBA2 is_implicated_in DOID:0110031 hemoglobin H disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15570643 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11272094 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10468909 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5977 IL15 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19133918 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6149 ITGAM is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33539617 20230620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16598069 20120305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26890368 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14681495 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17175070 20171106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17020 IRAK3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18437 HAVCR2 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22472081 20130607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24049014 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6585 LHCGR is_implicated_in DOID:2277 gonadal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8929952 20070306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6182 ITPR3 is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB is_implicated_in DOID:0050680 Boomerang dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16830 IL32 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26358252 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:1227 neutropenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19555437 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16580705 20110923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16352 MRM2 is_implicated_in DOID:0070448 mitochondrial DNA depletion syndrome 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22133274 20160824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20435602 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22509095 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22332214 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22932 GMPPB is_implicated_in DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21658414 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12651073 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20191587 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:0060872 isolated growth hormone deficiency type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5157 HPRT1 is_implicated_in DOID:0112127 HRPT-related hyperuricemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4834 HBS1L is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18839276 20160726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9140397 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:437 myasthenia gravis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10593018 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:437 myasthenia gravis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19561379 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8200206 20081105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8314445 20081105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11957 MED12 is_implicated_in DOID:591 phobic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12216017 20200805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24824 FZR1 is_implicated_in DOID:0070378 developmental and epileptic encephalopathy 109 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5181 HRG is_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9414276 20070209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:0060892 late onset Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_not_implicated_in DOID:0060573 von Willebrand's disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14652648 20160824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:409 liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19467940 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14987319 20160713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19727231 20230920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33126849 20230920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6259 KCNJ13 is_implicated_in DOID:0111570 snowflake vitreoretinal degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6929 MC1R is_implicated_in DOID:0070096 oculocutaneous albinism type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:8692 myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20959405 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6367 KLK6 is_implicated_in DOID:12217 Lewy body dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12928483 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11488937 20160125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18035413 20160125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20683151 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11859714 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5009 HMGA2 is_implicated_in DOID:3315 lipoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7606786 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17494 GJC2 is_implicated_in DOID:0110796 hereditary spastic paraplegia 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17494 GJC2 is_implicated_in DOID:0110796 hereditary spastic paraplegia 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19056803 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4286 GJB4 is_implicated_in DOID:0050467 erythrokeratodermia variabilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11017804 20170126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4286 GJB4 is_implicated_in DOID:0050467 erythrokeratodermia variabilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23037955 20170126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4286 GJB4 is_implicated_in DOID:0050467 erythrokeratodermia variabilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12648223 20170126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4173 GATA4 is_implicated_in DOID:1882 atrial heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21373748 20230202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4173 GATA4 is_implicated_in DOID:1882 atrial heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27418595 20230202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB is_implicated_in DOID:0060564 spinal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14991055 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3662 FGB is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9437197 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 is_implicated_in DOID:3068 glioblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23796897 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27816425 20190905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25396 FREM2 is_implicated_in DOID:0111717 isolated cryptophthalmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200325 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20140303 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22407040 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20935575 20140717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6944 MCM2 is_implicated_in DOID:0110592 autosomal dominant nonsyndromic deafness 70 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7102 MINPP1 is_implicated_in DOID:3969 thyroid gland papillary carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3817 FOXL1 is_implicated_in DOID:0060928 otosclerosis 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 is_implicated_in DOID:13223 uterine fibroid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:1584 acute chest syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23590899 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26521 LOXHD1 is_implicated_in DOID:0050567 orofacial cleft ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27242896 20170717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4166 GAS8 is_implicated_in DOID:0110619 primary ciliary dyskinesia 33 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23460508 20151110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6120 IRF5 is_implicated_in DOID:8566 herpes simplex ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20861862 20210115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12827651 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4116 GALE is_implicated_in DOID:0111458 galactose epimerase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191106 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18334963 20131209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_not_implicated_in DOID:13514 venous tributary occlusion of retina ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16157382 20061104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20526719 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:12010 anterior ischemic optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17454741 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:4247 coronary restenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16020495 20061126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10457895 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4452 GPC4 is_implicated_in DOID:0111842 Keipert syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190626 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6126 IRS2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6126 IRS2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11030756 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6700 LRP8 is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18592168 20090320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29669 IFT43 is_implicated_in DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29643 MLPH is_implicated_in DOID:0060834 Griscelli syndrome type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6493 LAMC2 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12855645 20181003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4803 HADHB is_implicated_in DOID:700 mitochondrial metabolism disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8651282 20070327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3801 FOXC2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15523639 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13780 GFM1 is_implicated_in DOID:0111474 combined oxidative phosphorylation deficiency 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1389 polyneuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20211906 20110812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26401 MARVELD2 is_implicated_in DOID:0110506 autosomal recessive nonsyndromic deafness 49 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3999 FTL is_implicated_in DOID:0111256 hyperferritinemia-cataract syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22020773 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3999 FTL is_implicated_in DOID:0111256 hyperferritinemia-cataract syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9292547 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3999 FTL is_implicated_in DOID:0111256 hyperferritinemia-cataract syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11798899 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27302 IBA57 is_implicated_in DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:2862 glucosephosphate dehydrogenase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15718915 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30952770 20200818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7406 MT2A is_implicated_in DOID:13001 carotid stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17622311 20120605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6487 LAMB2 is_implicated_in DOID:0060852 Pierson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6487 LAMB2 is_implicated_in DOID:0060852 Pierson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15367484 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27257426 20200218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22215535 20200218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6176 ITPA is_implicated_in DOID:2355 anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22571903 20191007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6176 ITPA is_implicated_in DOID:2355 anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26154744 20191007 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 is_implicated_in DOID:0081384 ataxia-telangiectasia-like disorder-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9927037 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17572208 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19963114 20130116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11691799 20130116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15718477 20130116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4218 GDF3 is_implicated_in DOID:0060838 isolated microphthalmia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11372010 20070416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0050902 medulloblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18952980 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7456 MT-ND2 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20454697 20111006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1555 urticaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20559009 20110812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1555 urticaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16502481 20110812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_implicated_in DOID:0111767 X-linked thrombocytopenia with beta-thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8823764 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:4195 hyperglycemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18752089 20090526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3785 FNTB is_implicated_in DOID:2030 anxiety disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 is_implicated_in DOID:3192 neurilemmoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24362817 20220413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_not_implicated_in DOID:1037 lymphoid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15217834 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:0112010 pituitary adenoma 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:8929 atrophic gastritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20082482 20200724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:8929 atrophic gastritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10616761 20200724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_implicated_in DOID:525 central nervous system vasculitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28734234 20230720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_implicated_in DOID:0060371 Parkinson's disease 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_implicated_in DOID:0060371 Parkinson's disease 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21796139 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11409120 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12808331 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24856568 20170626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26909998 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27660094 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0080750 erythema nodosum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22766250 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5136 HOXD13 is_implicated_in DOID:11836 clubfoot ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16331564 20170208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17693525 20140908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10999797 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6006 IL21R is_implicated_in DOID:0111982 immunodeficiency 56 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14522896 20080304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7460 MT-ND4L is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19394449 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7460 MT-ND4L is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11935318 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_implicated_in DOID:670 amphetamine abuse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27967329 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18541 KMT2E is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25284784 20141030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6522 LCAT is_implicated_in DOID:1391 Norum disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6522 LCAT is_implicated_in DOID:1391 Norum disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16061733 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14990915 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29536 MAPKBP1 is_implicated_in DOID:0111127 nephronophthisis 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9453491 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11473047 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3801 FOXC2 is_implicated_in DOID:0060260 ptosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11371511 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18233990 20190528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21653279 20131108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20437253 20101129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17439673 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4289 GK is_implicated_in DOID:0060363 glycerol kinase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9719371 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4289 GK is_implicated_in DOID:0060363 glycerol kinase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29410390 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:8991 cervix uteri carcinoma in situ ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25893807 20200724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6685 LRAT is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11381255 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_implicated_in DOID:3390 palmoplantar keratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10902626 20070306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23812950 20160125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6598 LIG1 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220316 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6598 LIG1 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1351188 20220316 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10383894 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12182912 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17064856 20170313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7460 MT-ND4L is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7603516 20120119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3964 FSHB is_implicated_in DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17979505 20090428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5469 IGFBP1 is_implicated_in DOID:11713 diabetic angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16306374 20070530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_implicated_in DOID:2508 Takayasu's arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17428358 20230920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4801 HADHA is_implicated_in DOID:9452 steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7846063 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5144 HPCA is_implicated_in DOID:0090038 torsion dystonia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9383 iridocyclitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1625093 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5432 IFNAR1 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220720 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6228 KCNAB1 is_implicated_in DOID:3328 temporal lobe epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21333500 20150224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10680782 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_not_implicated_in DOID:0060901 lymphoplasmacytic lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19573080 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 is_implicated_in DOID:0080662 atrial standstill 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29059 IQSEC2 is_implicated_in DOID:0112038 non-syndromic X-linked intellectual disability 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_implicated_in DOID:2942 bronchiolitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20437253 20101129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33616746 20220622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14573320 20070913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7108 MKKS is_implicated_in DOID:0110128 Bardet-Biedl syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10379 MRPL3 is_implicated_in DOID:0111472 combined oxidative phosphorylation deficiency 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6530 LCT is_implicated_in DOID:0111646 congenital lactase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23979883 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20484924 20101115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20358028 20101115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17997184 20100113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3676 FGF2 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18279437 20100113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:106 pleural tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10377182 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17855 GLCE is_implicated_in DOID:6713 cerebrovascular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27699767 20230804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1530 MICU1 is_implicated_in DOID:0111335 myopathy with extrapyramidal signs ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27049718 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28442395 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21495 KIF12 is_implicated_in DOID:0070221 progressive familial intrahepatic cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211222 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4065 GAA is_implicated_in DOID:2752 glycogen storage disease II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15308043 20101112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19796199 20101112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19995275 20101112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4241 GFPT1 is_implicated_in DOID:0110660 congenital myasthenic syndrome 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23766104 20161109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23791 INF2 is_implicated_in DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28880 MAGT1 is_implicated_in DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6224 KCNA5 is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:4166 syphilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22958291 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15461 MANF is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8971156 20070122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9744491 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22434102 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17058024 20140709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_implicated_in DOID:4001 ovarian carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19258954 20090319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18362 IMPG2 is_implicated_in DOID:0050661 vitelliform macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4070 GABBR1 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25191505 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4070 GABBR1 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29968397 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4070 GABBR1 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26727527 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22948415 20140707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6937 MCCC2 is_implicated_in DOID:700 mitochondrial metabolism disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11170888 20100302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:1884 viral hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21162873 20190911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_not_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17160266 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21716163 20110811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:11166 Human papillomavirus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12918070 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:11166 Human papillomavirus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19272325 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:11166 Human papillomavirus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12941545 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25252909 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21093954 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20688922 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4396 GNB1 is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33779075 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19773194 20111102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:7998 hyperthyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17194971 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14963 GPR101 is_implicated_in DOID:0112007 growth hormone secreting pituitary adenoma 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16333313 20140703 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24589556 20150624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4311 GCLC is_implicated_in DOID:0111681 glutamate-cysteine ligase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:552 pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16582079 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:14115 toxic shock syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19487983 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23321320 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17845309 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 is_implicated_in DOID:0111578 Gillespie syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11555411 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6950 MCM7 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24416400 20191216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17537658 20090528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7225 MPZ is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7225 MPZ is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11080237 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33541284 20230227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28203482 20230227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4174 GATA6 is_implicated_in DOID:0110114 atrial heart septal defect 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 is_implicated_in DOID:1984 rectal benign neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22199996 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 is_implicated_in DOID:1984 rectal benign neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23027623 20170912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6970 MDH1 is_implicated_in DOID:0112222 developmental and epileptic encephalopathy 88 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200812 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4510 KISS1R is_implicated_in DOID:1924 hypogonadism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12944565 20070129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_implicated_in DOID:0080551 Naxos disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4458 GPI is_implicated_in DOID:2861 congenital nonspherocytic hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9446754 20160412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4458 GPI is_implicated_in DOID:2861 congenital nonspherocytic hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17041899 20160412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23590899 20180820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17176440 20121031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26735576 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12925957 20080222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11591192 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:11265 trachoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11023480 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:11265 trachoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17947295 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:11265 trachoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15789056 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:2876 laryngeal squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27188866 20220622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 is_not_implicated_in DOID:13550 angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18223248 20131031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19185 FRAS1 is_implicated_in DOID:0111405 Fraser syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19185 FRAS1 is_implicated_in DOID:0111405 Fraser syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12766769 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33665490 20211118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29627316 20211118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25112956 20211118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16132104 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6344 KL is_implicated_in DOID:4372 intracranial embolism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16973281 20151105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6831 MANBA is_implicated_in DOID:3633 beta-mannosidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180822 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4327 GLRA2 is_implicated_in DOID:0070422 syndromic X-linked intellectual disability Pilorge type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28569 MEIOB is_implicated_in DOID:0070177 spermatogenic failure 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18948947 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_not_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22045834 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:0111059 Bernard-Soulier syndrome type A2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12709814 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32619164 20220210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6052 IMPDH1 is_implicated_in DOID:0110388 retinitis pigmentosa 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6913 MAX is_implicated_in DOID:0050771 pheochromocytoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3999 FTL is_implicated_in DOID:679 basal ganglia disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11438811 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24783 LRIT3 is_implicated_in DOID:0110864 congenital stationary night blindness 1F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12140 Chagas disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19811437 20110812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1570017 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8325445 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:1168 familial hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9920508 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28340949 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29300 KANK2 is_implicated_in DOID:0080272 nephrotic syndrome type 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3694 FGG is_implicated_in DOID:0112313 brain small vessel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17951283 20120306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27310 FLCN is_implicated_in DOID:0050676 Birt-Hogg-Dube syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12204536 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27310 FLCN is_implicated_in DOID:0050676 Birt-Hogg-Dube syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6338 KIR3DL1 is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21889618 20200920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6143 ITGA7 is_implicated_in DOID:0080000 muscular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9590299 20070226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6176 ITPA is_implicated_in DOID:0080458 developmental and epileptic encephalopathy 35 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30299 LRIF1 is_implicated_in DOID:0060917 facioscapulohumeral muscular dystrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210825 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:0111162 epidermal nevus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24283 KMT5B is_implicated_in DOID:0080232 autosomal dominant intellectual developmental disorder 51 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6233 KCNC1 is_implicated_in DOID:0111447 progressive myoclonus epilepsy 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4823 HBA1 is_implicated_in DOID:0111363 Heinz body anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12917504 20151029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17984249 20151029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16817825 20151029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16818665 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3771 FMO3 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9536088 20070809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0050784 primary progressive multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19616314 20181011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6485 LAMA5 is_implicated_in DOID:2590 familial nephrotic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221012 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11922883 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4979 MNX1 is_implicated_in DOID:0111546 Currarino syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 is_implicated_in DOID:2018 hyperinsulinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15998776 20070531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_implicated_in DOID:9993 hypoglycemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9435328 20070416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18940188 20090428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6653 LMX1A is_implicated_in DOID:0110591 autosomal dominant nonsyndromic deafness 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18823627 20090916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25151357 20141022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5244 HSPA9 is_implicated_in DOID:0060335 autosomal dominant sideroblastic anemia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20142525 20151006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18565828 20151006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20197700 20151006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19016491 20151006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4584 GRIN1 is_implicated_in DOID:0070387 developmental and epileptic encephalopathy 101 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 is_implicated_in DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B is_implicated_in DOID:0060573 von Willebrand's disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15226188 20160208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15269835 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7225 MPZ is_implicated_in DOID:0050540 Charcot-Marie-Tooth disease type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180425 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 is_implicated_in DOID:5517 stomach carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15319296 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40050 MCIDAS is_implicated_in DOID:0111855 primary ciliary dyskinesia 42 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:0080822 aspirin-induced respiratory disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25975240 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 is_implicated_in DOID:0080751 keratosis pilaris atrophicans ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6597 LIFR is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14740318 20070320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4544 GRK5 is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21184589 20120229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_not_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21049406 20121029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4571 GRIA1 is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220720 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_not_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19021011 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4006 FUCA1 is_implicated_in DOID:14500 fucosidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2642067 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4006 FUCA1 is_implicated_in DOID:14500 fucosidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:0060873 isolated growth hormone deficiency type IA ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14594175 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4261 GH1 is_implicated_in DOID:0060873 isolated growth hormone deficiency type IA ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4135 GALT is_implicated_in DOID:0111459 classic galactosemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191106 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4087 GABRG2 is_implicated_in DOID:0112210 developmental and epileptic encephalopathy 74 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190515 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11239517 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20661602 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:0111279 psoriasis 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25700262 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19175939 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18368064 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17067345 20231107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19111404 20231107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5965 IL10RB is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_implicated_in DOID:0080202 adenoid cystic carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23685749 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_implicated_in DOID:0080202 adenoid cystic carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31483290 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_not_implicated_in DOID:1123 spondyloarthropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21927904 20160202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:12177 common variable immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10652157 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13243 LMBR1 is_implicated_in DOID:0050603 acheiropody ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11630 HNF1B is_implicated_in DOID:557 kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16971658 20151026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11630 HNF1B is_implicated_in DOID:557 kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17971380 20151026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4803 HADHB is_implicated_in DOID:0111277 mitochondrial trifunctional protein deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8162643 20140108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:2860 hemoglobinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24930900 20151215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7328 MSH5 is_implicated_in DOID:0080870 primary ovarian insufficiency 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10013 GRK1 is_implicated_in DOID:8499 night blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9020843 20070222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21067287 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5417 IFNA1 is_implicated_in DOID:12287 Crimean-Congo hemorrhagic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26694082 20200728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3960 FSCN2 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11527955 20070108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20375120 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22483685 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4879 HEXB is_implicated_in DOID:3323 Sandhoff disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2147027 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4879 HEXB is_implicated_in DOID:3323 Sandhoff disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28051794 20190711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6954 MCPH1 is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22775483 20170718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6954 MCPH1 is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20978018 20170718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6512 LARS1 is_implicated_in DOID:0080717 infantile liver failure syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18183 GIPC3 is_implicated_in DOID:0110470 autosomal recessive nonsyndromic deafness 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6814 MAGEL2 is_implicated_in DOID:0111715 Schaaf-Yang syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6859 MAP3K7 is_implicated_in DOID:0111787 frontometaphyseal dysplasia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:633 myositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19493236 20111017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4571 GRIA1 is_implicated_in DOID:0081235 autosomal recessive intellectual developmental disorder 76 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220720 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:0060849 osteoporosis-pseudoglioma syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:0060849 osteoporosis-pseudoglioma syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11719191 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:0060849 osteoporosis-pseudoglioma syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16679074 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11470996 20110711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4335 GLUD1 is_implicated_in DOID:2018 hyperinsulinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10636977 20070417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11833070 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23749488 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12406553 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26782562 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22507625 20140818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:0080855 Parkinsonism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20838799 20111017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:3021 acute kidney failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22739978 20121113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:5614 eye disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16273766 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21424 IFT74 is_implicated_in DOID:0050777 Joubert syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_not_implicated_in DOID:2938 Epstein-Barr virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29446487 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_not_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17980059 20130121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5434 IFNB1 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31810024 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7326 MSH3 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28093084 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6493 LAMC2 is_implicated_in DOID:3209 junctional epidermolysis bullosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6493 LAMC2 is_implicated_in DOID:3209 junctional epidermolysis bullosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8012393 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5414 IFITM3 is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32348495 20200623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5099 HOXA1 is_implicated_in DOID:0050682 Athabaskan brainstem dysgenesis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5099 HOXA1 is_implicated_in DOID:0050682 Athabaskan brainstem dysgenesis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18412118 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:0111056 platelet-type bleeding disorder 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2052556 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:0111056 platelet-type bleeding disorder 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15705799 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:0111056 platelet-type bleeding disorder 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7833477 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:0111056 platelet-type bleeding disorder 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6112 IRAK1 is_implicated_in DOID:9008 psoriatic arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20500689 20131212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5172 HR is_implicated_in DOID:987 alopecia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9736769 20070207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18374 HPSE2 is_implicated_in DOID:0050816 urofacial syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180221 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:10754 otitis media ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17908769 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5208 HSD11B1 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26671915 20230628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18129 GHRL is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18848536 20091013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_not_implicated_in DOID:0111275 speech-language disorder-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19352412 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0110965 brachydactyly type A2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4845 HCN1 is_implicated_in DOID:0080429 developmental and epileptic encephalopathy 24 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4077 GABRA3 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9561979 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:2320 obstructive lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11875051 20101215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_implicated_in DOID:0070036 autosomal dominant intellectual developmental disorder 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12655278 20070322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_not_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22840759 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:0060688 arteriovenous malformations of the brain ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13315 HDAC8 is_implicated_in DOID:0080509 Cornelia de Lange syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24403048 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13315 HDAC8 is_implicated_in DOID:0080509 Cornelia de Lange syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13315 HDAC8 is_implicated_in DOID:0080509 Cornelia de Lange syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22889856 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6776 MAF is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11772997 20170717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6776 MAF is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24664492 20170717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13254 FTSJ1 is_implicated_in DOID:0112034 non-syndromic X-linked intellectual disability 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6080 INPPL1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12086927 20090817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6080 INPPL1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15220217 20090817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4341 GLUL is_implicated_in DOID:114 heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26395743 20230824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5439 IFNGR1 is_implicated_in DOID:0111955 immunodeficiency 27A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6132 ISL1 is_implicated_in DOID:1882 atrial heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24634231 20230406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:0060496 respiratory allergy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18849614 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15638228 20070628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:0112250 Gaucher's disease type IIIC ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29020928 20200818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25133 MARS2 is_implicated_in DOID:0050942 spastic ataxia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20127014 20211029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 is_implicated_in DOID:2596 larynx cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10067818 20110711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4816 HARS1 is_implicated_in DOID:0110842 Usher syndrome type 3B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5994 IL1R2 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31744444 20220712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3132 porphyria cutanea tarda ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20957336 20170313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3960 FSCN2 is_implicated_in DOID:0110406 retinitis pigmentosa 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2375 MED17 is_implicated_in DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12859 choreatic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17559688 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3791 FOLR1 is_implicated_in DOID:0050719 cerebral folate receptor alpha deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15461 MANF is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8649854 20070122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13243 LMBR1 is_implicated_in DOID:0111350 Laurin-Sandrow syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6460 KRT83 is_implicated_in DOID:0080251 erythrokeratodermia variabilis et progressiva 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6118 IRF3 is_implicated_in DOID:936 brain disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:750 peptic ulcer disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20405713 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19877 GALNT12 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_not_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17651147 20110322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19428376 20220425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4041 FZD3 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15274031 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4041 FZD3 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14642436 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:2018 hyperinsulinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9726033 20070517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18957 MAGI2 is_implicated_in DOID:0080271 nephrotic syndrome type 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6925 MBP is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1691612 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:0080365 endometrial hyperplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19419940 20091208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6872 MAPK10 is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:13838853 20190122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24356376 20160927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6560 LFNG is_implicated_in DOID:0112361 spondylocostal dysostosis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0081318 multiple synostoses syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19505916 20100909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4221 GDF6 is_implicated_in DOID:0080589 Klippel-Feil syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:0050697 chorioamnionitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15723707 20170628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_implicated_in DOID:3181 oligodendroglioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15455350 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7456 MT-ND2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10737123 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7456 MT-ND2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8723226 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6717 LTBP4 is_implicated_in DOID:0070139 autosomal recessive cutis laxa type IC ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4171 GATA2 is_implicated_in DOID:8692 myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19304323 20160407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4079 GABRA5 is_implicated_in DOID:0112215 developmental and epileptic encephalopathy 79 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19258635 20200629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16672072 20200629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_implicated_in DOID:0060001 withdrawal disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19111404 20231107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6919 MBD4 is_implicated_in DOID:6039 uveal melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:2862 glucosephosphate dehydrogenase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15718915 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23573 MORC2 is_implicated_in DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19204185 20110316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6354 KLHL3 is_implicated_in DOID:4479 pseudohypoaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT is_implicated_in DOID:3008 invasive ductal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12231533 20080218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_not_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14521259 20061127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32454910 20230328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4400 GNB3 is_implicated_in DOID:0110866 congenital stationary night blindness 1H ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8569364 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23859717 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4389 GNAO1 is_implicated_in DOID:0080450 developmental and epileptic encephalopathy 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:9733 renal tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19548368 20130118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10627122 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5542 IGHMBP2 is_implicated_in DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5542 IGHMBP2 is_implicated_in DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11528396 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21157 GTF2H5 is_implicated_in DOID:0111871 photosensitive trichothiodystrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:2596 larynx cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19252926 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_not_implicated_in DOID:0050117 disease by infectious agent ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16494622 20160823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18328165 20110922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20716 KLC2 is_implicated_in DOID:0060491 SPOAN syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3673 FGF17 is_implicated_in DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7316 MS4A2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8817330 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7316 MS4A2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19862939 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7316 MS4A2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19218813 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7316 MS4A2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21320344 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 is_implicated_in DOID:1206 Rett syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16183801 20231011 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 is_implicated_in DOID:1206 Rett syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11214906 20231011 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 is_implicated_in DOID:1206 Rett syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231011 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7422 MT-CO3 is_implicated_in DOID:3687 MELAS syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18587274 20110930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7493034 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:614 lymphopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17596285 20160318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:0080159 Cryptococcal meningitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21592999 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:0050697 chorioamnionitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15128916 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 is_implicated_in DOID:0060580 Noonan syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6416 KRT14 is_implicated_in DOID:4644 epidermolysis bullosa simplex ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6416 KRT14 is_implicated_in DOID:4644 epidermolysis bullosa simplex ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1717157 20211103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15784111 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:9655 oral mucosa leukoplakia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18507060 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:10603 glucose intolerance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15602651 20081103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7128 MLH3 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11586295 20070308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19030725 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4439 GP1BA is_implicated_in DOID:0050864 non-arteritic anterior ischemic optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17337399 20140721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:2219 Glanzmann's thrombasthenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14687991 20061104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:9164 achalasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11837716 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17053076 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5208 HSD11B1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28750217 20230628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7095 MID1 is_implicated_in DOID:0080697 Opitz GBBB syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6176 ITPA is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24519039 20160208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0111765 X-linked cardiac valvular dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17190868 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0111765 X-linked cardiac valvular dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21606 MPC1 is_implicated_in DOID:0080363 mitochondrial pyruvate carrier deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:9620 vesicoureteral reflux ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22906585 20120829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17855 GLCE is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27699767 20230804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0080788 proximal symphalangism 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201021 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:13550 angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23585864 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21205020 20121128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28221473 20151012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24247 GLYCTK is_implicated_in DOID:0111626 D-glyceric aciduria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:2218 blood platelet disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:898 autosomal dominant polycystic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25920554 20191204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17160266 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14703689 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16409268 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4076 GABRA2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16080114 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:5773 oral submucous fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18573513 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:5773 oral submucous fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22752755 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18298806 20220627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16797832 20220627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18129 GHRL is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4204 GCNT2 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15161861 20140717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15894659 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6919 MBD4 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20676650 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19551141 20130306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15319295 20130306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19027 LRRC8A is_implicated_in DOID:2583 agammaglobulinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14660746 20070216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19431193 20100914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0050902 medulloblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18952980 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6367 KLK6 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12074831 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6367 KLK6 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12480753 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6919 MBD4 is_implicated_in DOID:0080199 colorectal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10637515 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16126303 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7225 MPZ is_implicated_in DOID:0110158 Charcot-Marie-Tooth disease type 2I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18205184 20100402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6315 KHK is_implicated_in DOID:0111680 essential fructosuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6266 KCNJ5 is_implicated_in DOID:0110654 long QT syndrome 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5422 IFNA17 is_implicated_in DOID:12287 Crimean-Congo hemorrhagic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26694082 20200728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17034009 20231107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8786086 20121102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6116 IRF1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16961714 20110315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20303013 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18199464 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16915 HAX1 is_implicated_in DOID:0112133 severe congenital neutropenia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6408 MAFB is_implicated_in DOID:0111534 multicentric carpotarsal osteolysis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15802 GATA5 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26617239 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24767290 20230920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15455 MBTPS2 is_implicated_in DOID:0080754 X-linked keratosis follicularis spinulosa decalvans ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:0070271 Lynch syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10716257 20150624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11402127 20150624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6414 KRT12 is_implicated_in DOID:0080670 Meesmann corneal dystrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200429 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11592034 20170109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12070003 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24979673 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7994040 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_implicated_in DOID:9408 acute myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20044086 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:0111726 geleophysic dysplasia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6131 IRF9 is_implicated_in DOID:0111978 immunodeficiency 65 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_not_implicated_in DOID:2876 laryngeal squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24074040 20220627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7027 MERTK is_implicated_in DOID:0110367 retinitis pigmentosa 38 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15729581 20070517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18942221 20090928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5233 HSPA1B is_implicated_in DOID:2316 brain ischemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15992611 20070814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:848 arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19026120 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:848 arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19005160 20111018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3749 FLI1 is_implicated_in DOID:2218 blood platelet disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A is_implicated_in DOID:0060001 withdrawal disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19060480 20231114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5212 HSD17B3 is_implicated_in DOID:1923 disorder of sexual development ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8075637 20070222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8641022 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32034489 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21933611 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5287 HTR1B is_implicated_in DOID:12995 conduct disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14714219 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4298 GLB1 is_implicated_in DOID:0080501 GM1 gangliosidosis type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190306 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:2219 Glanzmann's thrombasthenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:2219 Glanzmann's thrombasthenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1967954 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12612583 20161123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25755106 20161123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15802 GATA5 is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23295592 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:0060688 arteriovenous malformations of the brain ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:13774 Addison's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19858318 20110812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:13774 Addison's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21816777 20110812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4266 GHRHR is_implicated_in DOID:0060870 isolated growth hormone deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8528260 20070417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9545018 20151111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:0060892 late onset Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5022 FOXA2 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10868949 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:11123 Henoch-Schoenlein purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11836690 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19960 KIAA0586 is_implicated_in DOID:0110992 Joubert syndrome 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:0111532 osteoglophonic dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15625620 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:0111532 osteoglophonic dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4396 GNB1 is_implicated_in DOID:0070072 autosomal dominant intellectual developmental disorder 42 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15060098 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:3969 thyroid gland papillary carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23749488 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4313 GLDC is_implicated_in DOID:9268 glycine encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230614 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4313 GLDC is_implicated_in DOID:9268 glycine encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15851735 20230614 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4313 GLDC is_implicated_in DOID:9268 glycine encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17361008 20230614 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6929 MC1R is_implicated_in DOID:6846 familial melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16636 KIF1B is_implicated_in DOID:0110154 Charcot-Marie-Tooth disease type 2A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11389829 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16636 KIF1B is_implicated_in DOID:0110154 Charcot-Marie-Tooth disease type 2A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14203 JPH3 is_implicated_in DOID:0090104 Huntington's disease-like 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3974 FTCD is_implicated_in DOID:0111679 glutamate formiminotransferase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6441 KRT4 is_implicated_in DOID:0081287 white sponge nevus 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6256 KCNJ10 is_implicated_in DOID:0110498 autosomal recessive nonsyndromic deafness 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31533 MIR146A is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26909569 20230428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:2671 transitional cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11314002 20080215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33882 INPP5K is_implicated_in DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6848 MAP3K1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17997823 20080529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6848 MAP3K1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17529967 20080529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6848 MAP3K1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32753933 20220111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4951 HLA-DRB3 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15201511 20201119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21741664 20110811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7406 MT2A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16518702 20120605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7406 MT2A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18349110 20120605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5351 ICOS is_implicated_in DOID:0081144 common variable immunodeficiency 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190710 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15710 LDB3 is_not_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26419279 20170314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:8929 atrophic gastritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20082482 20110812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1586 rheumatic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17559688 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:0060703 Muenke Syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6284 KCNMA1 is_implicated_in DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14048 MRPS16 is_implicated_in DOID:0111483 combined oxidative phosphorylation deficiency 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6132 ISL1 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30536204 20230405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1555 urticaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16433794 20110919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23861158 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28521 FBXO43 is_implicated_in DOID:0112353 spermatogenic failure 64 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5141 HP is_implicated_in DOID:14067 Plasmodium falciparum malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24478401 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17175070 20070321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6024 IL7R is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19505916 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16873705 20061127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5234 HSPA1L is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17428599 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_not_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21349879 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4041 FZD3 is_implicated_in DOID:1928 Williams-Beuren syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9147651 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18619044 20110406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20160424 20110406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6181 ITPR2 is_implicated_in DOID:0060603 isolated anhidrosis with normal sweat glands ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:552 pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20423913 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4115 GALC is_implicated_in DOID:10587 Krabbe disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0080178 mucositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20303013 20180821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_implicated_in DOID:9849 Meniere's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19241595 20130828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4855 HDC is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20608921 20110322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:14067 Plasmodium falciparum malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18194515 20110829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6834 MAOB is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9129714 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4335 GLUD1 is_implicated_in DOID:0070217 familial hyperinsulinemic hypoglycemia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21632096 20140707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18806884 20140707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12513847 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16472391 20110912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9848715 20140203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16970687 20140203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15068623 20140203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4832 HBG2 is_implicated_in DOID:0080773 delta beta-thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6423 KRT16 is_implicated_in DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6919 MBD4 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18495292 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25850245 20160317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17315188 20160317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4288 GJB6 is_implicated_in DOID:14693 Clouston syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15675129 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19034 MAST1 is_implicated_in DOID:0050671 female breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30303537 20220609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6895 MARCO is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28693442 20210223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6895 MARCO is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23617307 20210223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6895 MARCO is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27853145 20210223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13520 MESD is_implicated_in DOID:0111849 osteogenesis imperfecta type 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3804 FOXD3 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11152664 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14154 LMF1 is_implicated_in DOID:0111422 familial lipase maturation factor 1 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 is_implicated_in DOID:14116 multiple symmetric lipomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230607 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29121062 20211130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_implicated_in DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28510 GLIS3 is_implicated_in DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18363 IFNL1 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24269996 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3748 FLG is_implicated_in DOID:0110098 atopic dermatitis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25028103 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:11165 common wart ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15257408 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18359774 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18831943 20140721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7189 MOBP is_implicated_in DOID:9255 frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24994843 20200522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16678588 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18781864 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19455410 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26486291 20190709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19031431 20090619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7105 MITF is_implicated_in DOID:14021 Tietze's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10851256 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:11656 cicatricial pemphigoid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8052655 20131021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:11656 cicatricial pemphigoid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9683867 20131021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:8544 chronic fatigue syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21468604 20210816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6891 MAPRE2 is_implicated_in DOID:0112243 congenital symmetric circumferential skin creases 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18625 FKBP14 is_implicated_in DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3969 FSHR is_implicated_in DOID:5425 ovarian hyperstimulation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3969 FSHR is_implicated_in DOID:5425 ovarian hyperstimulation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12930928 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:7959 duodenal gastrinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17135306 20100326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6392 KIF23 is_implicated_in DOID:0111399 congenital dyserythropoietic anemia type III ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3819 FOXO1 is_implicated_in DOID:4051 alveolar rhabdomyosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3662 FGB is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18278190 20120306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17071 KDM4C is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24952432 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3971 FST is_implicated_in DOID:11612 polycystic ovary syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10411917 20070412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4281 GJA8 is_implicated_in DOID:0110231 cataract 1 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12029 sympathetic ophthalmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9062965 20131021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12029 sympathetic ophthalmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11222331 20131021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14557478 20140211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1019 osteomyelitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18312480 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:8997 polycythemia vera ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19258483 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3663 FGD1 is_implicated_in DOID:6683 X-linked Aarskog syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23211637 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3663 FGD1 is_implicated_in DOID:6683 X-linked Aarskog syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16353258 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3663 FGD1 is_implicated_in DOID:6683 X-linked Aarskog syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20082460 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3663 FGD1 is_implicated_in DOID:6683 X-linked Aarskog syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3663 FGD1 is_implicated_in DOID:6683 X-linked Aarskog syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7954831 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:8869 neuromyelitis optica ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27049564 20200722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:8869 neuromyelitis optica ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21748712 20200722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3662 FGB is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19352213 20121205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:104 bacterial infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24453114 20160823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6309 KERA is_implicated_in DOID:11342 arcus senilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10802664 20070307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:12835 quadriplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23415255 20170313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_not_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10848780 20160808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:10754 otitis media ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17908769 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:10754 otitis media ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18560870 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12196663 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22876127 20140114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6115 IREB2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16914832 20120822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:2340 craniosynostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25873011 20161121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:848 arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19035472 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14063 HDAC4 is_implicated_in DOID:8670 eating disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24216484 20141201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:0110959 Gaucher's disease type III ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6665 LOXL1 is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18223248 20131031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5439 IFNGR1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5439 IFNGR1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19575238 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6231 KCNB1 is_implicated_in DOID:0080461 developmental and epileptic encephalopathy 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28806457 20210507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6231 KCNB1 is_implicated_in DOID:0080461 developmental and epileptic encephalopathy 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18361938 20160822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23524567 20211008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:0060222 Scheie syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180207 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23694 GPR161 is_implicated_in DOID:0050902 medulloblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221102 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20031594 20230622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:9155 mucocutaneous leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7595196 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22674410 20170626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22512728 20170626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7456 MT-ND2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15262184 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:0050784 primary progressive multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19616314 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:11265 trachoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11023480 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20043 GEMIN5 is_implicated_in DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210818 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10102715 20090520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6423 KRT16 is_implicated_in DOID:2121 ectodermal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7539673 20070301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6413 KRT10 is_implicated_in DOID:0081359 epidermolytic hyperkeratosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230517 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5433 IFNAR2 is_implicated_in DOID:0111994 immunodeficiency 45 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4400 GNB3 is_implicated_in DOID:1168 familial hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17161225 20090914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4951 HLA-DRB3 is_implicated_in DOID:0080822 aspirin-induced respiratory disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25975240 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:9675 pulmonary emphysema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10631150 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21484 MCM9 is_implicated_in DOID:0080496 ovarian dysgenesis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6367 KLK6 is_implicated_in DOID:4752 multiple system atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12928483 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6239 KCND3 is_implicated_in DOID:0110226 Brugada syndrome 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:0081289 Antley-Bixler syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10633130 20170404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:2508 Takayasu's arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17428358 20230920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23113841 20140721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:10325 silicosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11264025 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_not_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17303389 20120321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:2352 hemochromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10194428 20190906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:2352 hemochromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8696333 20190906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:2352 hemochromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30651232 20190906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:2352 hemochromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12850493 20190906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23064 GSTO2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20374258 20110922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:9415 allergic asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28380482 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_implicated_in DOID:162 cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20818610 20111014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15710 LDB3 is_implicated_in DOID:0110423 dilated cardiomyopathy 1C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:182 calcinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17825092 20090427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 is_not_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11546917 20061106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19152241 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4562 GRAP is_implicated_in DOID:0111642 autosomal recessive nonsyndromic deafness 114 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190626 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:12960 acrocephalosyndactylia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10735635 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:12960 acrocephalosyndactylia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9677057 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:12960 acrocephalosyndactylia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:12960 acrocephalosyndactylia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23532954 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:12960 acrocephalosyndactylia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7668257 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17582 KAT6B is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24444492 20141029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:13543 hyperparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16563611 20100329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:11336 rhinoscleroma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17321882 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31648 MIR96 is_implicated_in DOID:0110576 autosomal dominant nonsyndromic deafness 50 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_not_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25436036 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A is_implicated_in DOID:13809 familial combined hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18340007 20170518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31693169 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33836681 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_implicated_in DOID:0050559 Fukuyama congenital muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4075 GABRA1 is_implicated_in DOID:0111314 idiopathic generalized epilepsy 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:0110497 autosomal recessive nonsyndromic deafness 39 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19576567 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:0110497 autosomal recessive nonsyndromic deafness 39 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15968 GDAP1 is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7391 MSX1 is_implicated_in DOID:13714 anodontia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8696335 20070309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24758241 20191014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7150 MLYCD is_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10455107 20070327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:38221 MIR2861 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181003 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3809 FOXF1 is_implicated_in DOID:13042 persistent fetal circulation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6240 KCNE1 is_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12228786 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_not_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18713787 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR is_implicated_in DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230719 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5969 IL12A is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26631030 20200421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5969 IL12A is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20521253 20200421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5969 IL12A is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27819525 20200421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21474 INPP5E is_implicated_in DOID:0110980 Joubert syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26052 INTS11 is_implicated_in DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230719 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6585 LHCGR is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12679452 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6585 LHCGR is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17692113 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6585 LHCGR is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17709176 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11352862 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7200 MOV10 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24338417 20180319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22269120 20120510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:0111102 maturity-onset diabetes of the young type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1037 lymphoid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22537952 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0050440 familial partial lipodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10655060 20170227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4217 GDF2 is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5033 HNRNPA2B1 is_implicated_in DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30291871 20190905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20097100 20190905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4278 GJA4 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16677656 20070813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4278 GJA4 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12477941 20070813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4278 GJA4 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15982495 20070813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_not_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22840759 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG is_implicated_in DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16333836 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG is_implicated_in DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_not_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22404659 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12022040 20061106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27649069 20210722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21072 MANEA is_implicated_in DOID:594 panic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24473444 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15977 HES7 is_implicated_in DOID:0112364 spondylocostal dysostosis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7392 MSX2 is_implicated_in DOID:0060285 parietal foramina ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29136 KDM4B is_implicated_in DOID:5940 malignant peripheral nerve sheath tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21785329 20141017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21889618 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6692 LRP1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12402342 20061030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17489060 20200727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8468491 20200727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21315052 20200727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23536957 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15597 HPS3 is_implicated_in DOID:0060541 Hermansky-Pudlak syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11590544 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15597 HPS3 is_implicated_in DOID:0060541 Hermansky-Pudlak syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15127882 20070830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:987 alopecia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7573371 20131028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4624 GSS is_implicated_in DOID:0112252 glutathione synthetase deficiency of erythrocytes ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A is_implicated_in DOID:9993 hypoglycemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18268044 20081104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21832969 20111109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5233 HSPA1B is_implicated_in DOID:1168 familial hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15992611 20070814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11425011 20161214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_implicated_in DOID:0050646 distal arthrogryposis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4118 GALK1 is_implicated_in DOID:14695 galactokinase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19158434 20150624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:2366 West Nile fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23220498 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24872 GNAS-AS1 is_implicated_in DOID:0080222 pseudohypoparathyroidism type IB ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17084840 20211021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:10754 otitis media ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16750996 20140718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22971512 20190426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10215103 20110912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17911365 20110912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10241 thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26691424 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7459 MT-ND4 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10737123 20111020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12297 Vogt-Koyanagi-Harada disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17605936 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12297 Vogt-Koyanagi-Harada disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19176112 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4180 GBE1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28355295 20200121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:2799 bronchiolitis obliterans ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19104434 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10792421 20140211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 is_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20332709 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20406895 20100831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4136 GAMT is_implicated_in DOID:9252 amino acid metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8651275 20070412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1362 FRRS1L is_implicated_in DOID:0080435 developmental and epileptic encephalopathy 37 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20019189 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 is_implicated_in DOID:0081042 T-cell prolymphocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24446122 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25366721 20231121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28900078 20231121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19473562 20110922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20401725 20110922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20597111 20110922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_implicated_in DOID:12918 thromboangiitis obliterans ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32567246 20230925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18358 IL17RC is_implicated_in DOID:2058 chronic mucocutaneous candidiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4326 GLRA1 is_implicated_in DOID:0060696 hyperekplexia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_implicated_in DOID:5577 gastrinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17278096 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28870 MDFIC is_implicated_in DOID:0050580 hereditary lymphedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220831 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21591983 20160412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6700 LRP8 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12399018 20120511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28349833 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:0050127 sinusitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20358028 20101115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20140303 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22407040 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4574 GRIA4 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12497607 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0070370 restrictive dermopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6482 LAMA2 is_implicated_in DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:10126 keratoconus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24416191 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16979413 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30550 MARCHF6 is_implicated_in DOID:0111695 familial adult myoclonic epilepsy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:0111390 mucopolysaccharidosis Ih ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33219256 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19368146 20121101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_implicated_in DOID:10123 pigmentation disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26548378 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16636 KIF1B is_implicated_in DOID:2152 ovary epithelial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25854172 20170206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_implicated_in DOID:0081214 autosomal recessive intellectual developmental disorder 51 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18222354 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20403483 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_implicated_in DOID:8791 breast carcinoma in situ ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8649861 20090727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17367 IFT57 is_implicated_in DOID:4501 orofaciodigital syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:8567 Hodgkin's lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21916526 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19181 KIF14 is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19965803 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3964 FSHB is_implicated_in DOID:13938 amenorrhea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8220432 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5172 HR is_implicated_in DOID:0050634 alopecia universalis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14897 ITPKC is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33470690 20220617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4173 GATA4 is_implicated_in DOID:0110107 atrial heart septal defect 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6848 MAP3K1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23042672 20220111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6848 MAP3K1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31686841 20220111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23441116 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6823 MAN1B1 is_implicated_in DOID:0081097 Rafiq syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4394 GNAT2 is_implicated_in DOID:13399 color blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12077706 20070112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16650 MRPL44 is_implicated_in DOID:0111469 combined oxidative phosphorylation deficiency 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26735262 20190711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7225 MPZ is_implicated_in DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6242 KCNE2 is_implicated_in DOID:0110648 long QT syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24565 KANSL1 is_implicated_in DOID:0050880 Koolen de Vries syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17986285 20130121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6759 MARCKS is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14358 IRX1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28358424 20230705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5136 HOXD13 is_implicated_in DOID:0111819 syndactyly type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17236141 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5136 HOXD13 is_implicated_in DOID:0111819 syndactyly type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4132 GALR1 is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15930442 20070628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_implicated_in DOID:0112223 developmental and epileptic encephalopathy 89 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20499 L2HGDH is_implicated_in DOID:2476 hereditary spastic paraplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24573090 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:1037 lymphoid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20705761 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25629058 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26443250 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18222354 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15227729 20061104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24850777 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4416 GNPAT is_implicated_in DOID:0110852 rhizomelic chondrodysplasia punctata type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18712 LGI4 is_implicated_in DOID:0080978 arthrogryposis multiplex congenita-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15153543 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19502269 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15895258 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26084639 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:3627 aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7762551 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28083615 20200921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23571152 20200921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4570 GRHPR is_implicated_in DOID:0111671 primary hyperoxaluria type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:13945 CADASIL ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_implicated_in DOID:13141 uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20868569 20230925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20213229 20151029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16231358 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_implicated_in DOID:557 kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15983323 20090610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_implicated_in DOID:557 kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16928730 20090610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29525679 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20297661 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3976 FTH1 is_implicated_in DOID:0111031 hemochromatosis type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4023 FXR1 is_implicated_in DOID:0081344 congenital myopathy 9B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_not_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23861158 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4832 HBG2 is_implicated_in DOID:10923 sickle cell anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2432426 20070316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_implicated_in DOID:0050744 anaplastic large cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18987657 20160810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6132 ISL1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30390123 20230405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6132 ISL1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20520780 20230405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4070 GABBR1 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19763258 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24862 MOGS is_implicated_in DOID:0070254 congenital disorder of glycosylation type IIb ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15331147 20181010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16013913 20181010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10206232 20181010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16965549 20181010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:1587 thrombocytopenia due to platelet alloimmunization ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22775462 20160315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7415 MT-ATP8 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17619138 20110912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20226 KIF26A is_implicated_in DOID:0090131 complex cortical dysplasia with other brain malformations ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4315 GLE1 is_implicated_in DOID:0060559 lethal congenital contracture syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5391 IDUA is_implicated_in DOID:0111389 mucopolysaccharidosis Ih/s ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19133 HS6ST2 is_implicated_in DOID:0111843 Paganini-Miozzo syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190626 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16636 KIF1B is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18997785 20170206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32424945 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:8483 retinal artery occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17438520 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24767290 20230920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6585 LHCGR is_implicated_in DOID:0111545 familial male-limited precocious puberty ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31949807 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30948177 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:37 skin disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21357384 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17055358 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4173 GATA4 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3631 FDPS is_implicated_in DOID:3805 porokeratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6001 IL2 is_implicated_in DOID:1577 limited scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17444587 20140702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:2596 larynx cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23516596 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:13481 thanatophoric dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10073901 20080215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19752772 20100405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29669 IFT43 is_implicated_in DOID:0080805 cranioectodermal dysplasia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:0110883 inflammatory bowel disease 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4510 KISS1R is_implicated_in DOID:0112310 central precocious puberty 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:9008 psoriatic arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19554022 20140328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:9008 psoriatic arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21349879 20140328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4281 GJA8 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9497259 20070108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6242 KCNE2 is_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15368194 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15928955 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 is_implicated_in DOID:0111110 maturity-onset diabetes of the young type 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16491645 20070510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29634 MEGF10 is_implicated_in DOID:0081345 congenital myopathy 10B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230607 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6708 LSS is_implicated_in DOID:0110267 cataract 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25629058 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5351 ICOS is_implicated_in DOID:0060025 immunoglobulin alpha deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19020530 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_not_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19328219 20231110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:11678 onchocerciasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22117902 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_implicated_in DOID:0111057 platelet-type bleeding disorder 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230823 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_implicated_in DOID:0111057 platelet-type bleeding disorder 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23815599 20230823 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27897113 20181005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12133567 20181005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6136 ITGA11 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772397 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15465 GPHN is_implicated_in DOID:0111166 molybdenum cofactor deficiency type C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18423940 20120302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27468578 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6040 ILK is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772397 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:1580 diffuse scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16832637 20111216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19174490 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18258609 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16429 LIAS is_implicated_in DOID:3649 pyruvate decarboxylase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24864 GAPDHS is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15507493 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8733445 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4689 GUCY2D is_implicated_in DOID:0050534 congenital stationary night blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34961832 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_implicated_in DOID:0080202 adenoid cystic carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31483290 20211221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6610 LIM2 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11917274 20070307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3662 FGB is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8565160 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14504370 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16060290 20080917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:11336 rhinoscleroma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17321882 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10013 GRK1 is_implicated_in DOID:0110713 Oguchi disease-2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180808 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30821106 20220215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10316 pneumoconiosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16188098 20131121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18763028 20100910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16846526 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:13406 pulmonary sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15713215 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:614 lymphopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17596285 20160318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3801 FOXC2 is_implicated_in DOID:4977 lymphedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11371511 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3801 FOXC2 is_implicated_in DOID:4977 lymphedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15523639 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 is_implicated_in DOID:417 autoimmune disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31121195 20190920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:10923 sickle cell anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:10923 sickle cell anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:6304979 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28035729 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7180 MN1 is_implicated_in DOID:4586 familial meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6840 MAP2K1 is_implicated_in DOID:4253 melorheostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15710 LDB3 is_implicated_in DOID:0080095 myofibrillar myopathy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4076 GABRA2 is_implicated_in DOID:0112214 developmental and epileptic encephalopathy 78 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7001 MEIS2 is_implicated_in DOID:0050567 orofacial cleft ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24678003 20221019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6427 KRT17 is_implicated_in DOID:2121 ectodermal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7539673 20070301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4076 GABRA2 is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15024690 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33862 GRXCR2 is_implicated_in DOID:0110462 autosomal recessive nonsyndromic deafness 101 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4878 HEXA is_implicated_in DOID:3320 Tay-Sachs disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:0081371 lacrimoauriculodentodigital syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15734 KIRREL1 is_implicated_in DOID:0112266 nephrotic syndrome type 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210324 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6024 IL7R is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220706 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5381 IDE is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12765971 20070820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15598 HAMP is_implicated_in DOID:0111032 hemochromatosis type 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:0080820 occupational asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24709764 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4394 GNAT2 is_implicated_in DOID:0110010 achromatopsia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24063 GALM is_implicated_in DOID:9870 galactosemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13312 GSTO1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17194543 20110914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13312 GSTO1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14570706 20110914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0050012 chikungunya ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23710940 20200722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28887 LEMD3 is_not_implicated_in DOID:0111536 Buschke-Ollendorff syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20083694 20161014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26520 KASH5 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6404 KPTN is_implicated_in DOID:0081206 autosomal recessive intellectual developmental disorder 41 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:2340 craniosynostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11467490 20161206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18647855 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17213232 20070813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6458 KRT81 is_implicated_in DOID:0050472 monilethrix ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25169964 20201118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 is_implicated_in DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:3492 mixed connective tissue disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12559632 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6293 KCNN4 is_implicated_in DOID:0111577 dehydrated hereditary stomatocytosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28167353 20230623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24622111 20230623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12938145 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5102 HOXA13 is_implicated_in DOID:0111544 Guttmacher syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15802 GATA5 is_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23175127 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6638 LMNB2 is_implicated_in DOID:0111450 progressive myoclonus epilepsy 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:0060892 late onset Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17250723 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4041 FZD3 is_not_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15657645 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6176 ITPA is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22009189 20160208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14991055 20170228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16752402 20170228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB is_implicated_in DOID:11836 clubfoot ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27395407 20170228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28844 FBXO38 is_implicated_in DOID:0111210 autosomal dominant distal hereditary motor neuronopathy 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6080 INPPL1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15220217 20070713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6144 ITGA8 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23153507 20180525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14712310 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4936 HLA-DOA is_implicated_in DOID:0080820 occupational asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24709764 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_implicated_in DOID:0070216 familial hyperinsulinemic hypoglycemia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20499 L2HGDH is_implicated_in DOID:0050573 2-hydroxyglutaric aciduria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26208971 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20499 L2HGDH is_implicated_in DOID:0050573 2-hydroxyglutaric aciduria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24894778 20180220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6005 IL21 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23236436 20210617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:10126 keratoconus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23592922 20131106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22351163 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19309 KANK1 is_implicated_in DOID:0081360 spastic quadriplegic cerebral palsy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_implicated_in DOID:5016 hepatocellular clear cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25355558 20190919 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20007077 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17050030 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4573 GRIA3 is_implicated_in DOID:0060823 syndromic X-linked intellectual disability 94 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4026 FXYD2 is_implicated_in DOID:0060885 renal hypomagnesemia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11062458 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4026 FXYD2 is_implicated_in DOID:0060885 renal hypomagnesemia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4367 GM2A is_implicated_in DOID:4795 GM2 gangliosidosis, AB variant ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5006 HMGCR is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0050790 fibular hypoplasia and complex brachydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12121354 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0050790 fibular hypoplasia and complex brachydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4037 FYN is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12670706 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:11713 diabetic angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_implicated_in DOID:0110539 autosomal recessive nonsyndromic deafness 97 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4855 HDC is_implicated_in DOID:11119 Gilles de la Tourette syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4138 GANAB is_implicated_in DOID:0110860 polycystic kidney disease 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25369080 20230721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11336748 20200716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11957 MED12 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12216017 20200805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15844 HPS4 is_implicated_in DOID:3753 Hermansky-Pudlak syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12664304 20160728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15844 HPS4 is_implicated_in DOID:3753 Hermansky-Pudlak syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11836498 20160728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15844 HPS4 is_implicated_in DOID:3753 Hermansky-Pudlak syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23563589 20160728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16905 KLHL41 is_implicated_in DOID:0110929 nemaline myopathy 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:2921 glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17596285 20160318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6278 KCNK3 is_implicated_in DOID:14557 primary pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29046 FBXO28 is_implicated_in DOID:0070386 developmental and epileptic encephalopathy 100 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220316 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32218415 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:8568 infectious mononucleosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21482926 20201119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:14768 Saethre-Chotzen syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180725 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_implicated_in DOID:0111745 cerebellar ataxia type 43 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:874 bacterial pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18641104 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14962818 20110104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21244 LEMD2 is_implicated_in DOID:0110243 cataract 46 juvenile-onset ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29262 IFT80 is_implicated_in DOID:0110086 asphyxiating thoracic dystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:1579 respiratory system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19403501 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1584 acute chest syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23590899 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4479 MCHR1 is_implicated_in DOID:11981 morbid obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16186414 20070510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7456 MT-ND2 is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1352971 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4422 GNS is_implicated_in DOID:12801 mucopolysaccharidosis III ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12573255 20070122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14283 IKZF5 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210113 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:9669 senile cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22446016 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7490 MT-TL1 is_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7906985 20130318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_not_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27730688 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6700 LRP8 is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20208369 20120511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5147 HPD is_implicated_in DOID:0111362 hawkinsinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14686 JAM2 is_implicated_in DOID:0060230 basal ganglia calcification ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200408 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4311 GCLC is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16690975 20110705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6936 MCCC1 is_implicated_in DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 is_implicated_in DOID:2842 Jervell-Lange Nielsen syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 is_implicated_in DOID:2842 Jervell-Lange Nielsen syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12051962 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6776 MAF is_implicated_in DOID:0110256 cataract 21 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5969 IL12A is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27175695 20200421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5969 IL12A is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19458352 20200421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5969 IL12A is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23433321 20200421 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6484 LAMA4 is_implicated_in DOID:0110438 dilated cardiomyopathy 1JJ ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4081 GABRB1 is_implicated_in DOID:0080428 developmental and epileptic encephalopathy 45 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19331 MMAB is_implicated_in DOID:0060743 methylmalonic acidemia cblB type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16870093 20110923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15940757 20110923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16887863 20110923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20848524 20110829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB is_implicated_in DOID:0080006 bone development disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14991055 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB is_implicated_in DOID:0080006 bone development disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15994868 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5136 HOXD13 is_implicated_in DOID:0050581 brachydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12649808 20170208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30380970 20210506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 is_implicated_in DOID:2355 anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19651813 20160726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4223 MSTN is_implicated_in DOID:0111072 myostatin-related muscle hypertrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180822 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16132956 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4195 GCK is_implicated_in DOID:0060639 permanent neonatal diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200506 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14202 JPH2 is_implicated_in DOID:0110323 hypertrophic cardiomyopathy 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0060851 pemphigus vulgaris ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28197992 20190912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:231 motor neuron disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10215103 20110908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6140 ITGA4 is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19259978 20180518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11811 KLF11 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15774581 20090723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15466015 20061130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:8437 intestinal obstruction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30291871 20190905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0110977 brachydactyly type A1C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6176 ITPA is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24519039 20160208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB is_implicated_in DOID:0111960 immunodeficiency 15A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12873455 20131209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6357 KLK1 is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15086490 20061024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6387 KLC1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19911314 20111212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6387 KLC1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15364413 20111212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6139 ITGA3 is_implicated_in DOID:3209 junctional epidermolysis bullosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7326 MSH3 is_implicated_in DOID:0080412 familial adenomatous polyposis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19157 IL27 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17318299 20110304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6371 KLKB1 is_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19307730 20130912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_implicated_in DOID:10976 membranous glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15464186 20070327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4823 HBA1 is_implicated_in DOID:1099 alpha thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4040 FZD2 is_implicated_in DOID:0080845 omodysplasia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_not_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21927904 20160202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18712 LGI4 is_implicated_in DOID:1825 childhood absence epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14505228 20150113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18873 IFIH1 is_implicated_in DOID:0050629 Aicardi-Goutieres syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:824 periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22795294 20121025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4707 GYS2 is_implicated_in DOID:2747 glycogen storage disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9691087 20070326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B is_implicated_in DOID:1037 lymphoid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20705761 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9182 pemphigus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18780165 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11040018 20061117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10953187 20110906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6524 LCK is_implicated_in DOID:0111937 immunodeficiency 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4021 KDSR is_implicated_in DOID:0080250 erythrokeratodermia variabilis et progressiva 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4716 H1-2 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19806355 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19199550 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS is_implicated_in DOID:3382 liposarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20332486 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6848 MAP3K1 is_implicated_in DOID:0080763 diffuse gastric cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24759887 20220111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:9182 pemphigus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18780165 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16404 IL17F is_implicated_in DOID:2058 chronic mucocutaneous candidiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:321 tropical spastic paraparesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25729550 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5227 HSF4 is_implicated_in DOID:0110255 cataract 5 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:824 periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15491310 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17870 INVS is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19177160 20230106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16247506 20070824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4393 GNAT1 is_implicated_in DOID:0110715 congenital stationary night blindness autosomal dominant 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:986 alopecia areata ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8077705 20121109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:14067 Plasmodium falciparum malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11076705 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6255 KCNJ1 is_implicated_in DOID:0110143 Bartter disease type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4323 GLO1 is_implicated_in DOID:178 vascular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18079478 20130415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4510 KISS1R is_implicated_in DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3602 toxic encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27220440 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3602 toxic encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8923609 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:0060652 familial erythrocytosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16101830 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11426025 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12622781 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4823 HBA1 is_implicated_in DOID:0111631 familial erythrocytosis 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6572 LGI1 is_implicated_in DOID:0060748 familial temporal lobe epilepsy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4172 GATA3 is_implicated_in DOID:2527 nephrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10935639 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4192 GCGR is_implicated_in DOID:0112306 Mahvash Disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210602 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:12134 factor VIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20082647 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7461 MT-ND5 is_implicated_in DOID:3687 MELAS syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18587274 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7461 MT-ND5 is_implicated_in DOID:3687 MELAS syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10589546 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7461 MT-ND5 is_implicated_in DOID:3687 MELAS syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21850008 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20019189 20100330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15802 GATA5 is_implicated_in DOID:9408 acute myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33684162 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4454 GPC6 is_implicated_in DOID:0080844 omodysplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30372 KLHL40 is_implicated_in DOID:0110930 nemaline myopathy 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12949934 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6145 ITGA9 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21764681 20180529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14726935 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_implicated_in DOID:0112182 mismatch repair cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15638228 20070628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21424 IFT74 is_implicated_in DOID:0081011 Bardet-Biedl syndrome 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:322 myelitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22884298 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4173 GATA4 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25430 LRRC56 is_implicated_in DOID:0111854 primary ciliary dyskinesia 39 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25726 LAS1L is_implicated_in DOID:0060814 Wilson-Turner syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6284 KCNMA1 is_implicated_in DOID:1827 idiopathic generalized epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28852433 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4174 GATA6 is_implicated_in DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18969 IL31RA is_implicated_in DOID:0080931 primary localized cutaneous amyloidosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17095 LARS2 is_implicated_in DOID:0050857 Perrault syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13299 LGR4 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6325 KIF5C is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24581549 20170412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17071 KDM4C is_implicated_in DOID:0060001 withdrawal disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22072270 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26058 LAGE3 is_implicated_in DOID:0080244 Galloway-Mowat syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4311 GCLC is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12598062 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4311 GCLC is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:12030 panuveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21357402 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:13774 Addison's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20455895 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:13774 Addison's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12072047 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:589 congenital hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1520632 20070329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:8986 narcolepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11179016 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4221 GDF6 is_implicated_in DOID:0110217 Leber congenital amaurosis 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:14499 Fabry disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17353161 20121029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7175 MMP8 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17974962 20080710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4124 GALNT2 is_implicated_in DOID:0050571 congenital disorder of glycosylation type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200610 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18638378 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6086 INSL3 is_implicated_in DOID:11383 cryptorchidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12601553 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6086 INSL3 is_implicated_in DOID:11383 cryptorchidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7316 MS4A2 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8817330 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7103 MIP is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10802646 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4396 GNB1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17893434 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17387388 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6341 KISS1 is_implicated_in DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18362 IMPG2 is_implicated_in DOID:0110371 retinitis pigmentosa 56 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18708297 20110912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17619138 20110912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16126303 20100915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:1474 aggressive periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17524385 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1573 KRIT1 is_implicated_in DOID:0080491 cerebral cavernous malformation 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14509 MRPS23 is_implicated_in DOID:0112115 combined oxidative phosphorylation deficiency 46 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200812 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21243434 20110916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6585 LHCGR is_implicated_in DOID:2696 Leydig cell tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11857565 20080422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:104 bacterial infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16987934 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6294 KCNQ1 is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:0050168 autoimmune polyendocrine syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21388354 20110811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29514 GLDN is_implicated_in DOID:0060558 lethal congenital contracture syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17428599 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:7235 pancreatic mucinous cystadenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28570009 20190426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9675 pulmonary emphysema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20495862 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7132 KMT2A is_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35731275 20230217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4323 GLO1 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17346350 20130415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7104 MIPEP is_implicated_in DOID:0111488 combined oxidative phosphorylation deficiency 31 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7128 MLH3 is_implicated_in DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4235 GFAP is_implicated_in DOID:4252 Alexander disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6482 LAMA2 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27611182 20180608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27051043 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22496224 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27083422 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26197724 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:13001 carotid stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12364729 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:11204 allergic conjunctivitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22023794 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27310 FLCN is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:14040 autoimmune polyendocrine syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16254435 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:14040 autoimmune polyendocrine syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12734793 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24613087 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9220309 20180724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19691 MECR is_implicated_in DOID:5723 optic atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24054 KNL1 is_implicated_in DOID:0070291 primary autosomal recessive microcephaly 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5101 HOXA11 is_implicated_in DOID:9827 radioulnar synostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11101832 20160727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5209 HSD11B2 is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9683587 20070518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0111784 otopalatodigital syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12612583 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0111784 otopalatodigital syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15968 GDAP1 is_implicated_in DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21365284 20170202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16063 MLLT10 is_implicated_in DOID:8864 acute monocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7662954 20061219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4422 GNS is_implicated_in DOID:0111402 mucopolysaccharidosis type IIID ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191106 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5964 IL10RA is_implicated_in DOID:0110899 inflammatory bowel disease 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:8692 myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16313269 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5024 HNF4A is_implicated_in DOID:0080760 Fanconi renotubular syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 is_implicated_in DOID:3362 coronary aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12103254 20061106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B is_implicated_in DOID:4928 intrahepatic cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33014052 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12765 FOXN1 is_implicated_in DOID:987 alopecia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10206641 20070219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 is_implicated_in DOID:3459 breast carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19383352 20100419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:11712 lipoatrophic diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12196663 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25979 MIEF1 is_implicated_in DOID:5723 optic atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11957 MED12 is_implicated_in DOID:1967 leiomyosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26891131 20170629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13556 IFT122 is_implicated_in DOID:0080803 cranioectodermal dysplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4221 GDF6 is_implicated_in DOID:0081320 multiple synostoses syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15885889 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4077 GABRA3 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11840313 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13312 GSTO1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20818931 20110915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13312 GSTO1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14570706 20110915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25190649 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19565552 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23717640 20210524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6006 IL21R is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11821949 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_not_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22404659 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_not_implicated_in DOID:4428 dyslexia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21897444 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4389 GNAO1 is_implicated_in DOID:0112276 neurodevelopmental disorder with involuntary movements ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12749 LAT2 is_implicated_in DOID:1928 Williams-Beuren syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11003705 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6439 KRT2 is_implicated_in DOID:1697 ichthyosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7524919 20070302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15909293 20070413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:5517 stomach carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7773929 20070309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_implicated_in DOID:419 scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16078323 20230720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:1407 anterior uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16899524 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6190 JAK1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23788652 20211130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14557478 20140211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23177 KEAP1 is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18692501 20120827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:10223 dermatomyositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12485445 20140722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4451 GPC3 is_implicated_in DOID:2154 nephroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3670 FGF13 is_implicated_in DOID:0050776 non-syndromic X-linked intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2810 GSDME is_implicated_in DOID:0110575 autosomal dominant nonsyndromic deafness 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12987 agranulocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20868635 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4214 GDF1 is_implicated_in DOID:0050545 visceral heterotaxy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1686 glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10511023 20131022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:615 leukopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19555437 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11137992 20090427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23740230 20150501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7994040 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12070003 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6345 KLF1 is_implicated_in DOID:0111400 congenital dyserythropoietic anemia type IV ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191009 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21173 LTV1 is_implicated_in DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28244954 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4637 GSTM5 is_implicated_in DOID:13223 uterine fibroid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18184915 20111101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6996 MEF2C is_implicated_in DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:988 mitral valve prolapse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12918850 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6008 IL2RA is_implicated_in DOID:0111968 immunodeficiency 41 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5433 IFNAR2 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18121 MFRP is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22605927 20161017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4286 GJB4 is_implicated_in DOID:0080248 erythrokeratodermia variabilis et progressiva 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12486603 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4091 GABRR2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16080114 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4934 HLA-DMA is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10375868 20061117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26178 FHOD3 is_implicated_in DOID:0080326 familial hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210707 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14508 MRPS22 is_implicated_in DOID:0111473 combined oxidative phosphorylation deficiency 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:0070004 myeloid neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15858187 20151228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:0070004 myeloid neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23845539 20151228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6696 LRP4 is_implicated_in DOID:0090015 Cenani-Lenz syndactyly syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:9146 visceral leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12438370 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23331206 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20331879 20140521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4938 HLA-DPA1 is_implicated_in DOID:11678 onchocerciasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8854084 20120328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11336748 20200716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:13025 retinopathy of prematurity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24033735 20131018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14248 MED15 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12497610 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18035413 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11488937 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22924777 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18177825 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4556 GPX4 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18850177 20220630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6182 ITPR3 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:1520 colon carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11972882 20210525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6142 ITGA6 is_implicated_in DOID:3209 junctional epidermolysis bullosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9185503 20070226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7180 MN1 is_implicated_in DOID:8692 myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7731705 20070308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6529 LCP2 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210707 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6121 IRF6 is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12219090 20170518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6121 IRF6 is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20672350 20170518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7010 MEN1 is_implicated_in DOID:5577 gastrinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15944766 20100330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18409070 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11841482 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:8991 cervix uteri carcinoma in situ ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10073700 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:8991 cervix uteri carcinoma in situ ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15458897 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:8991 cervix uteri carcinoma in situ ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18351579 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4390 GNAQ is_implicated_in DOID:0111529 familial multiple nevi flammei ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22467227 20200117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4092 GAD1 is_implicated_in DOID:1742 drug psychosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27967329 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17357145 20070823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16397405 20070823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9744491 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:0080822 aspirin-induced respiratory disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25975240 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22377896 20141210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:1580 diffuse scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11014350 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_implicated_in DOID:0080685 aortic dissection ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28097184 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:12399 pathological gambling ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22740152 20231113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17494 GJC2 is_implicated_in DOID:4977 lymphedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20537300 20170814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17494 GJC2 is_implicated_in DOID:4977 lymphedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21266381 20170814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15115915 20110711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6189 JAG2 is_implicated_in DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6716 LTBP3 is_implicated_in DOID:0111727 geleophysic dysplasia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6267 KCNJ6 is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21307845 20120511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:8805 intermediate coronary syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15104219 20061104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20444 MBD5 is_implicated_in DOID:0070031 autosomal dominant intellectual developmental disorder 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19838709 20160125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10485 esophageal atresia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20740495 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6065 INHA is_implicated_in DOID:10286 prostate carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11818495 20080311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10672954 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:12859 choreatic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17559688 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4824 HBA2 is_implicated_in DOID:0111631 familial erythrocytosis 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6483 LAMA3 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12855645 20181003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6416 KRT14 is_implicated_in DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29418 FNIP1 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14593215 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:10632 Wolfram syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9309689 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12948297 20081103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_implicated_in DOID:14681 Silver-Russell syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6006 IL21R is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19644854 20120816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7456 MT-ND2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1370613 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7376 MSR1 is_implicated_in DOID:9206 Barrett's esophagus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16002 MPLKIP is_implicated_in DOID:0050528 nonphotosensitive trichothiodystrophy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190904 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_not_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18221301 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18817 HPS6 is_implicated_in DOID:0060544 Hermansky-Pudlak syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB is_implicated_in DOID:0050648 atelosteogenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_not_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22182247 20210504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:1584 acute chest syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22966170 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19628284 20170721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20471697 20170721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20444 MBD5 is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23055267 20161025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20444 MBD5 is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23632792 20161025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3722 FKBP6 is_implicated_in DOID:1928 Williams-Beuren syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9782077 20061110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4390 GNAQ is_implicated_in DOID:0111563 Sturge-Weber syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4250 GGT1 is_implicated_in DOID:0111257 gamma-glutamyl transpeptidase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17016522 20070516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15048662 20070516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22404659 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12727968 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16390810 20090428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6929 MC1R is_implicated_in DOID:10123 pigmentation disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210421 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4171 GATA2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4171 GATA2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25241285 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15455 MBTPS2 is_implicated_in DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6343 KITLG is_implicated_in DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19042 MASTL is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12890928 20070105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17550 KREMEN1 is_implicated_in DOID:0111650 ectodermal dysplasia 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11014350 20140220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6595 LHX3 is_implicated_in DOID:9410 panhypopituitarism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12543794 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15659047 20070510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:3082 interstitial lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21520010 20140313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6121 IRF6 is_implicated_in DOID:0060055 popliteal pterygium syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15840 KMT2B is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220720 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6742 LZTR1 is_implicated_in DOID:0060588 Noonan syndrome 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7132 KMT2A is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8361504 20070531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26926 JAGN1 is_implicated_in DOID:0112134 severe congenital neutropenia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25129144 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26926 JAGN1 is_implicated_in DOID:0112134 severe congenital neutropenia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25851723 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26926 JAGN1 is_implicated_in DOID:0112134 severe congenital neutropenia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6758 MAB21L2 is_implicated_in DOID:0111802 syndromic microphthalmia 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6325 KIF5C is_implicated_in DOID:0090133 complex cortical dysplasia with other brain malformations 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10705106 20070420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:8549 chronic ulcer of skin ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21455563 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17539022 20080215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:14115 toxic shock syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17202308 20120928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10600011 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14973098 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4579 GRIK1 is_not_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11702055 20070918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3606 FBP1 is_implicated_in DOID:5204 fructose-1,6-bisphosphatase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3606 FBP1 is_implicated_in DOID:5204 fructose-1,6-bisphosphatase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7763253 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28340949 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:4376 milk allergy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19220774 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:401 multidrug-resistant tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14522182 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17979505 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20739761 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_implicated_in DOID:0080545 hyper IgE syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200812 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30767 KNSTRN is_implicated_in DOID:8866 actinic keratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30972880 20200604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0080177 hepatic veno-occlusive disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15142875 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7427 MT-CYB is_implicated_in DOID:4001 ovarian carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11507041 20080805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10534244 20131209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16328014 20070510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20467983 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17532303 20100903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:4398 pustulosis of palm and sole ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12691703 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_implicated_in DOID:3068 glioblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14669534 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17920 MIEF2 is_implicated_in DOID:0112110 combined oxidative phosphorylation deficiency 49 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200930 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_implicated_in DOID:1586 rheumatic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2737695 20111114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19473366 20151006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6833 MAOA is_implicated_in DOID:594 panic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15670397 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19522770 20140328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16873 FIG4 is_implicated_in DOID:0060202 amyotrophic lateral sclerosis type 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15802 GATA5 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23289003 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11630 HNF1B is_implicated_in DOID:0111101 maturity-onset diabetes of the young type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:0060001 withdrawal disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19060480 20231110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:986 alopecia areata ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16231148 20140218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6234 KCNC2 is_implicated_in DOID:0070389 developmental and epileptic encephalopathy 103 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220629 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3800 FOXC1 is_implicated_in DOID:14686 Axenfeld-Rieger syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18498376 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3800 FOXC1 is_implicated_in DOID:14686 Axenfeld-Rieger syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12614756 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3800 FOXC1 is_implicated_in DOID:14686 Axenfeld-Rieger syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15477465 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15108192 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15737702 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18708297 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4519 GPR68 is_implicated_in DOID:0080960 amelogenesis imperfecta type 2A6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4401 GNB5 is_implicated_in DOID:0081008 intellectual developmental disorder with cardiac arrhythmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6848 MAP3K1 is_implicated_in DOID:1993 rectum cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23859041 20220112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6848 MAP3K1 is_implicated_in DOID:1993 rectum cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23027623 20220112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4221 GDF6 is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18716610 20170322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19448408 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6482 LAMA2 is_implicated_in DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19918037 20110304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_implicated_in DOID:0080802 autosomal recessive craniometaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6764 MAD2L2 is_implicated_in DOID:0111080 Fanconi anemia complementation group V ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6155 ITGB2 is_implicated_in DOID:4247 coronary restenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11703955 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13243 LMBR1 is_implicated_in DOID:0111818 syndactyly type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13013 KAT6A is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12676584 20141125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4817 HARS2 is_implicated_in DOID:0050857 Perrault syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 is_implicated_in DOID:0112182 mismatch repair cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6156 ITGB3 is_implicated_in DOID:0050864 non-arteritic anterior ischemic optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20162297 20140711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:3602 toxic encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17022435 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44480 IFNL4 is_implicated_in DOID:0111823 autosomal hemophilia A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27904617 20201104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15820084 20101112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12694338 20121113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B is_implicated_in DOID:2921 glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19640933 20130215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11678850 20101117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:11123 Henoch-Schoenlein purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9186886 20121112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16618 MRPS34 is_implicated_in DOID:0111492 combined oxidative phosphorylation deficiency 32 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15318028 20110912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11181039 20110912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8119534 20121109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_implicated_in DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11137992 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6106 FOXP3 is_implicated_in DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15561966 20120508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19820367 20180711 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180711 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5209 HSD11B2 is_implicated_in DOID:4367 apparent mineralocorticoid excess syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_implicated_in DOID:0110444 dilated cardiomyopathy 1X ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15833432 20170111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28867 IGF2BP2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4795 H6PD is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19935835 20120801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12744 MLXIPL is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24448738 20230912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:11088 asphyxia neonatorum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21058530 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3666 FGF10 is_implicated_in DOID:0081372 lacrimoauriculodentodigital syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27730688 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:2893 cervix carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10813720 20131216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1553789 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7096 MID2 is_implicated_in DOID:0112048 non-syndromic X-linked intellectual disability 101 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30497 KIF7 is_implicated_in DOID:0111356 hydrolethalus syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3749 FLI1 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15232614 20061110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4689 GUCY2D is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11565546 20070208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_implicated_in DOID:1307 dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21220649 20111031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29597 IRGM is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3959 FRZB is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6263 KCNJ2 is_implicated_in DOID:0050434 Andersen-Tawil syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7415 MT-ATP8 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15254717 20081210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25051072 20160401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_implicated_in DOID:4006 bladder urothelial carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30352907 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9164324 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4679 GUCA1B is_implicated_in DOID:0110382 retinitis pigmentosa 48 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14189 LST1 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9808588 20100216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18640 LDLRAP1 is_implicated_in DOID:0090105 autosomal recessive hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17893005 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25705 KCTD17 is_implicated_in DOID:0090036 myoclonic dystonia 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:12206 dengue hemorrhagic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22817980 20160316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4198 GCM2 is_implicated_in DOID:13543 hyperparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4887 HJV is_implicated_in DOID:2352 hemochromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14647275 20070205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33391418 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28002581 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4952 HLA-DRB4 is_implicated_in DOID:0080822 aspirin-induced respiratory disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25975240 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18073300 20140328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12765 FOXN1 is_implicated_in DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28522810 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13861 LZTS1 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10097140 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13861 LZTS1 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5974 IL13RA1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17006604 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23870089 20140624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_not_implicated_in DOID:4990 essential tremor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19773194 20111102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17182961 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4462 GPNMB is_implicated_in DOID:0080932 primary localized cutaneous amyloidosis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4933 HLA-C is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32424945 20200625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:289 endometriosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20797713 20110811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:0111535 progressive osseous heteroplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4216 GDF11 is_implicated_in DOID:0070418 vertebral hypersegmentation and orofacial anomalies ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17513 HOMER2 is_implicated_in DOID:0110589 autosomal dominant nonsyndromic deafness 68 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31199602 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22351163 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10965818 20110906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8568 infectious mononucleosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22537952 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19250218 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6708 LSS is_implicated_in DOID:0080950 alopecia-mental retardation syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200429 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23837223 20131022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6242 KCNE2 is_implicated_in DOID:2843 long QT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15840476 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6338 KIR3DL1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23073291 20200918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_implicated_in DOID:1307 dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20930301 20151120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18204169 20110321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15505 MBOAT7 is_implicated_in DOID:0081219 autosomal recessive intellectual developmental disorder 57 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14513 MRPS28 is_implicated_in DOID:0112114 combined oxidative phosphorylation deficiency 47 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200812 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5383 IDH2 is_implicated_in DOID:4928 intrahepatic cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22824796 20191015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:0050567 orofacial cleft ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11471167 20170314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18365 IFNL3 is_implicated_in DOID:2917 cryoglobulinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24293567 20160812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:615 leukopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19555437 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:8567 Hodgkin's lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19573080 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17022 HPS5 is_implicated_in DOID:0060543 Hermansky-Pudlak syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31400761 20220331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6019 IL6R is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20197062 20151029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4600 GRM8 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15211621 20120628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19026120 20111017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18544563 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1304 MRAP is_implicated_in DOID:0080620 familial glucocorticoid deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12864991 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15713222 20190509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7370 MSL3 is_implicated_in DOID:0111838 Basilicata-Akhtar syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191002 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6021 IL6ST is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220316 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:3069 malignant astrocytoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12241105 20110902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3604 FBN2 is_implicated_in DOID:0111595 congenital contractural arachnodactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11754102 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3604 FBN2 is_implicated_in DOID:0111595 congenital contractural arachnodactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8849 GATB is_implicated_in DOID:0112119 combined oxidative phosphorylation deficiency 41 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16879749 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:594 panic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24856568 20170626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18788 KLRK1 is_implicated_in DOID:321 tropical spastic paraparesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22170554 20200923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21454453 20160128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29066969 20211231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24204805 20190509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30160782 20190509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19321798 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1686 glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10511023 20131022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5208 HSD11B1 is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23659736 20230628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15597 HPS3 is_implicated_in DOID:3753 Hermansky-Pudlak syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11455388 20070207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5233 HSPA1B is_implicated_in DOID:14115 toxic shock syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12771604 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10564681 20080613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_not_implicated_in DOID:3458 breast adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11466624 20080215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4044 FZD6 is_implicated_in DOID:0080079 nonsyndromic congenital nail disorder 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200408 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5102 HOXA13 is_implicated_in DOID:0060739 hand-foot-genital syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5102 HOXA13 is_implicated_in DOID:0060739 hand-foot-genital syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9020844 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:8997 polycythemia vera ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22018952 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5994 IL1R2 is_implicated_in DOID:0050686 organ system cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25158664 20220715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:13406 pulmonary sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15881283 20201118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20018070 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:633 myositis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17586554 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14533660 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6427 KRT17 is_implicated_in DOID:0050449 pachyonychia congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:1389 polyneuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24487381 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3806 FOXE1 is_implicated_in DOID:0050655 Bamforth-Lazarus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4118 GALK1 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7670469 20070111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13861 LZTS1 is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10097140 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_implicated_in DOID:0110083 arrhythmogenic right ventricular dysplasia 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14373 GLMN is_implicated_in DOID:2436 glomangioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:9383 iridocyclitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20445114 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6833 MAOA is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24356376 20160927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15844 HPS4 is_implicated_in DOID:0060542 Hermansky-Pudlak syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6585 LHCGR is_implicated_in DOID:0112259 Leydig cell hypoplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15717 GEMIN4 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25495208 20231115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7180 MN1 is_implicated_in DOID:3565 meningioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7731706 20070308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4617 GSK3B is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21393552 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3756 FLNC is_implicated_in DOID:0080096 myofibrillar myopathy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28660 ISCA1 is_implicated_in DOID:0080274 multiple mitochondrial dysfunctions syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20134 GLRX5 is_implicated_in DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1092 FOXL2 is_implicated_in DOID:0080860 primary ovarian insufficiency 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:350 mastocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19178408 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4458 GPI is_implicated_in DOID:440 neuromuscular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9856489 20070321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1459 hypothyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17588142 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6648 LMOD2 is_implicated_in DOID:0081163 dilated cardiomyopathy 2G ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4323 GLO1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18413187 20130415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15331559 20090427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_implicated_in DOID:0050467 erythrokeratodermia variabilis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25398053 20170612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17916905 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:0111941 immunodeficiency 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13356 MCOLN1 is_implicated_in DOID:3343 glycoproteinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10973263 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_implicated_in DOID:0070000 3-methylglutaconic aciduria type 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15802 GATA5 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25543888 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:9008 psoriatic arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21253 LHFPL5 is_implicated_in DOID:0110518 autosomal recessive nonsyndromic deafness 67 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:0111108 maturity-onset diabetes of the young type 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17494 GJC2 is_implicated_in DOID:0070208 hereditary lymphedema IC ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN is_implicated_in DOID:0111218 Friedreich ataxia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15665277 20090319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:9663 aphthous stomatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27266194 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4877 HESX1 is_implicated_in DOID:0060857 septooptic dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4877 HESX1 is_implicated_in DOID:0060857 septooptic dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9620767 20200115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6631 LMAN1 is_implicated_in DOID:2211 factor XIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9546392 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4298 GLB1 is_implicated_in DOID:0080489 GM1 gangliosidosis type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6158 ITGB4 is_implicated_in DOID:3209 junctional epidermolysis bullosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6463 KRT86 is_implicated_in DOID:421 hair disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9241275 20070302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C is_implicated_in DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C is_implicated_in DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22326837 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB is_implicated_in DOID:0090116 spondylocarpotarsal synostosis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:574 peripheral nervous system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19223573 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0080822 aspirin-induced respiratory disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25975240 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13356 MCOLN1 is_implicated_in DOID:0080490 mucolipidosis type IV ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21257739 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20345872 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28244954 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6181 ITPR2 is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17827064 20120503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19565552 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7391 MSX1 is_implicated_in DOID:0050591 tooth agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5358 IRF8 is_implicated_in DOID:0111986 immunodeficiency 32A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7105 MITF is_implicated_in DOID:6846 familial melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19030725 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10598809 20070521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17512053 20160506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6463 KRT86 is_implicated_in DOID:0050472 monilethrix ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6174 ITM2B is_implicated_in DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17349874 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4171 GATA2 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23151 FERMT3 is_implicated_in DOID:0110912 leukocyte adhesion deficiency 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19234463 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23151 FERMT3 is_implicated_in DOID:0110912 leukocyte adhesion deficiency 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17380888 20100914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18364273 20100914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 is_not_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16082623 20061106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10591678 20070515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5273 HSPG2 is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11101850 20070507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:4948 gallbladder carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19065724 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22426166 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26542219 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23093364 20140331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15832029 20151023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3604 FBN2 is_implicated_in DOID:0060249 scoliosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24833718 20170615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9653015 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16420246 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5234 HSPA1L is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18299791 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:11166 Human papillomavirus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25056374 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:4377 egg allergy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19220774 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:341 peripheral vascular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15295097 20061102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:6543 acne ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22705603 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24786325 20220131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:3326 purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16166103 20160816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4238 GFI1B is_implicated_in DOID:0111044 gray platelet syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24325358 20160309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6284 KCNMA1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21480501 20151111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4189 GCDH is_implicated_in DOID:0111254 glutaric acidemia I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4938 HLA-DPA1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27051043 20190614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15497451 20131017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR is_implicated_in DOID:0050470 Donohue syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17587057 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20978829 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23093364 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18708 GRIP1 is_implicated_in DOID:0111406 Fraser syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_not_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15944607 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0050454 periventricular nodular heterotopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23873601 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0050454 periventricular nodular heterotopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11532987 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0050454 periventricular nodular heterotopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0050454 periventricular nodular heterotopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9883725 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6716 LTBP3 is_implicated_in DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24846 GAS2L2 is_implicated_in DOID:0111858 primary ciliary dyskinesia 41 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190626 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:0050661 vitelliform macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22893068 20131101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28929 KRT74 is_implicated_in DOID:0111573 autosomal dominant woolly hair ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22213390 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14662415 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20356 GON7 is_implicated_in DOID:0080694 Galloway-Mowat syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15461 MANF is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8971156 20070122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6598 LIG1 is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1351188 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_not_implicated_in DOID:3572 intracranial sinus thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20946167 20230926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7103 MIP is_implicated_in DOID:0110251 cataract 15 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21734 LHX4 is_implicated_in DOID:9410 panhypopituitarism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12765 FOXN1 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10206641 20070219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:1474 aggressive periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28662328 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4242 GFPT2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14764791 20090528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22269120 20120510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6762 MAD1L1 is_implicated_in DOID:0060058 lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11423979 20070219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5227 HSF4 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12089525 20070214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_not_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18361935 20170626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:0050784 primary progressive multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11164908 20150320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6937 MCCC2 is_implicated_in DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21690 GET4 is_implicated_in DOID:0050571 congenital disorder of glycosylation type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19221176 20130118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19691 MECR is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14313 IFT81 is_implicated_in DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23818300 20180730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6617 LIPA is_implicated_in DOID:0080217 lysosomal acid lipase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7456 MT-ND2 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18708297 20111004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_not_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18512818 20140227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16973168 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4951 HLA-DRB3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22397267 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:0110741 type 1 diabetes mellitus 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5351 ICOS is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19020530 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4198 GCM2 is_implicated_in DOID:0111387 familial isolated hypoparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4271 GIPR is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17624916 20090825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17896805 20121115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:1184 nephrotic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14758530 20121101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:12206 dengue hemorrhagic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32524212 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16079101 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6446 KRT8 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11372009 20070227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4390 GNAQ is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17720980 20210419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6051 IMPA2 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11317223 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4311 GCLC is_implicated_in DOID:583 hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10733484 20160408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_not_implicated_in DOID:13550 angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23441116 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_implicated_in DOID:0080444 developmental and epileptic encephalopathy 27 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:161 keratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12485442 20131209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18324 HSD3B7 is_implicated_in DOID:1852 intrahepatic cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12679481 20070222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21245432 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0050185 erythema multiforme ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9627123 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7045 MGAT2 is_implicated_in DOID:0070253 congenital disorder of glycosylation type IIa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4458 GPI is_implicated_in DOID:589 congenital hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8499925 20070321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4458 GPI is_implicated_in DOID:589 congenital hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9856489 20070321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7456 MT-ND2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15254717 20081211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:216 dental caries ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30803280 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6006 IL21R is_implicated_in DOID:707 B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11821949 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27373035 20210927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21702039 20210927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25221 MMADHC is_implicated_in DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4938 HLA-DPA1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7576003 20120328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5218 HSD3B2 is_implicated_in DOID:10892 hypospadias ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14764821 20070522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14495 MRPS2 is_implicated_in DOID:0111482 combined oxidative phosphorylation deficiency 36 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1210 optic neuritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19286687 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6715 LTBP2 is_implicated_in DOID:0050475 Weill-Marchesani syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6715 LTBP2 is_implicated_in DOID:0050475 Weill-Marchesani syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22539340 20230406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29239 INTU is_implicated_in DOID:0080289 orofaciodigital syndrome XVII ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4800 HSD17B10 is_implicated_in DOID:0060810 syndromic X-linked intellectual disability type 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12215464 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4678 GUCA1A is_implicated_in DOID:0080314 cone-rod dystrophy 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200624 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16179637 20110104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7458 MT-ND3 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19458970 20120208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19703233 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20570631 20190731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:0111079 birdshot chorioretinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3341436 20131022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4180 GBE1 is_implicated_in DOID:2750 glycogen storage disease IV ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4180 GBE1 is_implicated_in DOID:2750 glycogen storage disease IV ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8613547 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6637 LMNB1 is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6128 IRS4 is_implicated_in DOID:0111835 congenital nongoitrous hypothyroidism 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191002 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5996 IL1RAPL1 is_implicated_in DOID:0112022 non-syndromic X-linked intellectual disability 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18579366 20150729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16084 LIMS2 is_implicated_in DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:11162 respiratory failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18582923 20101203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:8544 chronic fatigue syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16049290 20210621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11426023 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16868148 20090721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_implicated_in DOID:2476 hereditary spastic paraplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11898127 20070503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:0060180 colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2257626 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_implicated_in DOID:10908 hydrocephalus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6470 L1CAM is_implicated_in DOID:10908 hydrocephalus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7920659 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:10126 keratoconus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19043479 20140108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15347835 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11001883 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6857 MAP3K5 is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18327563 20151116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20711177 20110906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5136 HOXD13 is_implicated_in DOID:11383 cryptorchidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17216618 20170208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4556 GPX4 is_implicated_in DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:11832 visual epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17596285 20160318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17870 INVS is_implicated_in DOID:0111113 nephronophthisis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12872123 20230106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17870 INVS is_implicated_in DOID:0111113 nephronophthisis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7216 MPI is_implicated_in DOID:2978 carbohydrate metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9525984 20070309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6320 KIF3B is_implicated_in DOID:0112146 retinitis pigmentosa 89 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200722 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:11934 head and neck cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21133595 20190903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6263 KCNJ2 is_implicated_in DOID:0050793 short QT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19019892 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25154742 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4458 GPI is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9856489 20070321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17064856 20170313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32898339 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0050827 rheumatic heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17578051 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4846 HCN2 is_implicated_in DOID:0111310 familial febrile seizures 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:22474 MED13 is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19263 LMAN2L is_implicated_in DOID:0081215 autosomal recessive intellectual developmental disorder 52 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4237 GFI1 is_implicated_in DOID:0112131 severe congenital neutropenia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6383 KNG1 is_implicated_in DOID:0111676 high molecular weight kininogen deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7901207 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6383 KNG1 is_implicated_in DOID:0111676 high molecular weight kininogen deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6112 IRAK1 is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20500689 20131212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4699 GYG1 is_implicated_in DOID:0050579 glycogen storage disease XV ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4369 GMDS is_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25173105 20180627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15736 HID1 is_implicated_in DOID:0070391 developmental and epileptic encephalopathy 105 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220810 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11040079 20131209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5048 HNRNPU is_implicated_in DOID:0080418 developmental and epileptic encephalopathy 54 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7121 MKS1 is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18327255 20160920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4114 GAL is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15930442 20070628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30651232 20190906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6444 KRT6B is_implicated_in DOID:0050449 pachyonychia congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3788 FOLH1 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20458436 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7329 MSH6 is_implicated_in DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_implicated_in DOID:8719 in situ carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8649861 20090727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6121 IRF6 is_implicated_in DOID:11193 syndactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12219090 20070302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27468578 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:13336 congenital toxoplasmosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26856406 20210601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7105 MITF is_implicated_in DOID:0110950 Waardenburg syndrome type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6667 LPA is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18775538 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10325 silicosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11776400 20200717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6412 KRT1 is_implicated_in DOID:0081110 keratosis palmoplantaris striata 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:9383 iridocyclitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8162643 20140108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28929 KRT74 is_implicated_in DOID:0110700 hypotrichosis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:11563 retinal vasculitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12608042 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:0060574 von Willebrand's disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16409463 20160208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:0050156 idiopathic pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21373184 20110811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4600 GRM8 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22138692 20120628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24525 MMACHC is_implicated_in DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_not_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20808730 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24339523 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5467 IGF2R is_implicated_in DOID:2154 nephroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9070652 20130429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4635 GSTM3 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10680782 20110912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16216474 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12177 common variable immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10361244 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5233 HSPA1B is_implicated_in DOID:9669 senile cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23666708 20140624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR is_implicated_in DOID:0060870 isolated growth hormone deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2813379 20070416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12473595 20130122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:13636 Fanconi anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16173971 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15823277 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11826024 20150305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3755 FLNB is_implicated_in DOID:14764 Larsen syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15455 MBTPS2 is_implicated_in DOID:0111847 osteogenesis imperfecta type 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:1227 neutropenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11295474 20160318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5417 IFNA1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29080269 20200728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23396137 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6741 LZTFL1 is_implicated_in DOID:0110139 Bardet-Biedl syndrome 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20630084 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3801 FOXC2 is_implicated_in DOID:10952 nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15523639 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:0050127 sinusitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11037831 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14504370 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5993 IL1R1 is_implicated_in DOID:0060645 chronic recurrent multifocal osteomyelitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230809 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6700 LRP8 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18592168 20090320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33699 KHDC3L is_implicated_in DOID:3590 gestational trophoblastic neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4713 H19 is_implicated_in DOID:0050743 mature T-cell and NK-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34077009 20230329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:1417 choroid disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21357402 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26789 LACC1 is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200318 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12136229 20061126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12377749 20061126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6617 LIPA is_implicated_in DOID:14502 cholesterol ester storage disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:6097111 20070320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1340 pure red-cell aplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18689790 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6292 KCNN3 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12007452 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6292 KCNN3 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9672903 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6819 MALT1 is_implicated_in DOID:0060058 lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10523859 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17045328 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6677 LPL is_implicated_in DOID:13809 familial combined hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6460 KRT83 is_implicated_in DOID:0050472 monilethrix ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29597 IRGM is_implicated_in DOID:0110890 inflammatory bowel disease 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6009 IL2RB is_implicated_in DOID:9146 visceral leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17108990 20210310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6005 IL21 is_implicated_in DOID:0081153 common variable immunodeficiency 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4057 G6PD is_implicated_in DOID:14067 Plasmodium falciparum malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24943486 20151217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16644 IFITM5 is_implicated_in DOID:0110344 osteogenesis imperfecta type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5031 HNRNPA1 is_implicated_in DOID:0060211 amyotrophic lateral sclerosis type 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4319 GLI3 is_implicated_in DOID:13714 anodontia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22984994 20170131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:14040 autoimmune polyendocrine syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16254435 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18234 MOCOS is_implicated_in DOID:0070453 xanthinuria type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5466 IGF2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16750516 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6898 MARS1 is_implicated_in DOID:0070454 hereditary spastic paraplegia 70 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7160 MMP14 is_implicated_in DOID:0080696 Winchester syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4689 GUCY2D is_implicated_in DOID:0110078 Leber congenital amaurosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17550320 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12662 paracoccidioidomycosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17325942 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16960 LBX1 is_implicated_in DOID:0060731 congenital central hypoventilation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211006 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:409 liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30651232 20190906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5136 HOXD13 is_implicated_in DOID:0110967 brachydactyly type A4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17236141 20170208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5233 HSPA1B is_implicated_in DOID:0080784 urinary tract infection ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20379347 20130417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4335 GLUD1 is_implicated_in DOID:9993 hypoglycemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10636977 20070417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6601 LIG4 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16638864 20170714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_implicated_in DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:9477 pulmonary embolism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25161014 20230623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21151336 20140113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2568 MAMLD1 is_implicated_in DOID:10892 hypospadias ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20672371 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 is_implicated_in DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231011 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20462916 20110812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21205 LINGO1 is_implicated_in DOID:0081225 autosomal recessive intellectual developmental disorder 64 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3665 FGF1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17893707 20111109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6144 ITGA8 is_implicated_in DOID:14766 renal agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180711 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19918037 20110304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4267 GHSR is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16511600 20070531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14499 MRPS7 is_implicated_in DOID:0111497 combined oxidative phosphorylation deficiency 34 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2799 GRHL2 is_implicated_in DOID:0080669 posterior polymorphous corneal dystrophy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10892 hypospadias ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21300689 20170313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3806 FOXE1 is_implicated_in DOID:3969 thyroid gland papillary carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20889 LRIG2 is_implicated_in DOID:0050816 urofacial syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:0050560 Walker-Warburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20236121 20170119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4079 GABRA5 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9514592 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13308 GPRC5B is_implicated_in DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230726 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0110475 autosomal recessive nonsyndromic deafness 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7391 MSX1 is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12807959 20110527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28949 IQCB1 is_implicated_in DOID:0050576 Senior-Loken syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15723066 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28949 IQCB1 is_implicated_in DOID:0050576 Senior-Loken syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4279 GJA5 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22199024 20130205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13726 KMT2C is_implicated_in DOID:4927 Klatskin's tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33387086 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27644568 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11399938 20140320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6297 KCNQ3 is_implicated_in DOID:14264 benign neonatal seizures ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6297 KCNQ3 is_implicated_in DOID:14264 benign neonatal seizures ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9425900 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6297 KCNQ3 is_implicated_in DOID:14264 benign neonatal seizures ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10852552 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:9452 steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33081272 20231110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17866 HAVCR1 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16159638 20110321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6888 MAPKAPK3 is_implicated_in DOID:0060865 patterned macular dystrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27115882 20190905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6439 KRT2 is_implicated_in DOID:0060877 bullous congenital ichthyosiform erythroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4580 GRIK2 is_implicated_in DOID:0081182 autosomal recessive intellectual developmental disorder 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4138 GANAB is_implicated_in DOID:0080322 polycystic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27259053 20191018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7874165 20070413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6929 MC1R is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21052032 20120206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5970 IL12B is_implicated_in DOID:0111950 immunodeficiency 29 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6305 KDELR2 is_implicated_in DOID:0112201 osteogenesis imperfecta type 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772397 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6297 KCNQ3 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23596459 20150209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29669 IFT43 is_implicated_in DOID:0080292 retinitis pigmentosa 81 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14357 MMP21 is_implicated_in DOID:0050545 visceral heterotaxy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29350 IQCN is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221221 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6919 MBD4 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25162968 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6919 MBD4 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15205355 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4812 HAP1 is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18192679 20171002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4812 HAP1 is_implicated_in DOID:12858 Huntington's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20512606 20171002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21086 MIB1 is_implicated_in DOID:0060480 left ventricular noncompaction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28221473 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20854423 20110316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6357 KLK1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17022964 20070822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28880 MAGT1 is_implicated_in DOID:0111839 congenital disorder of glycosylation Icc ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24767290 20230920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12233881 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16712 FBXW7 is_implicated_in DOID:0070420 developmental delay, hypotonia, and impaired language ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221109 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11477481 20110920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0050426 Stevens-Johnson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8841298 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:0060071 pre-malignant neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28182092 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6619 LIPC is_implicated_in DOID:341 peripheral vascular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18413186 20090610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11561111 20140722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21510992 20140722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14282 IRF2BPL is_implicated_in DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6116 IRF1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27268603 20191004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15714 LRPPRC is_implicated_in DOID:0111180 French Canadian Leigh disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6423 KRT16 is_implicated_in DOID:0050449 pachyonychia congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4947 HLA-DRA is_implicated_in DOID:0060892 late onset Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21791235 20110906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7127 MLH1 is_not_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21093954 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22840759 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_implicated_in DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6701 LRPAP1 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:0080037 Worth syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17616 IL17RD is_implicated_in DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15564773 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0050820 atrioventricular block ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25469153 20170228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14348 HTRA2 is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18364387 20120301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:12134 factor VIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25930091 20160427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26558 HYLS1 is_implicated_in DOID:0111355 hydrolethalus syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6243 KCNE3 is_implicated_in DOID:14452 hypokalemic periodic paralysis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11207363 20070226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19026397 20111006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20454697 20111006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6338 KIR3DL1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31863692 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6338 KIR3DL1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6623 LIPG is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17016617 20070822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29673 MFAP5 is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_not_implicated_in DOID:8997 polycythemia vera ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19258483 20160129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4079 GABRA5 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9267853 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4318 GLI2 is_implicated_in DOID:0110873 holoprosencephaly 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3677 FGF20 is_implicated_in DOID:14766 renal agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25947 KLHL24 is_implicated_in DOID:4644 epidermolysis bullosa simplex ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5133 HOXD10 is_implicated_in DOID:0111568 congenital vertical talus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_not_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21049406 20121029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9476 HTRA1 is_implicated_in DOID:0111036 CADASIL 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22360648 20190729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19703233 20190729 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:5614 eye disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26654556 20191003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18562769 20120124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29077 IFT140 is_implicated_in DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5136 HOXD13 is_implicated_in DOID:0110971 brachydactyly type D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:9123 eczema herpeticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21458658 20140205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31001878 20190920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0111786 frontometaphyseal dysplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0111786 frontometaphyseal dysplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16835913 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5037 HNRNPDL is_implicated_in DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24120392 20170309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_implicated_in DOID:0111334 congenital leptin deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4192 GCGR is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7773293 20070529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6293 KCNN4 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19644414 20230726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21532063 20140523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16273766 20140523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_implicated_in DOID:1936 atherosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22328194 20130828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4400 GNB3 is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16908025 20090914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3808 FOXE3 is_implicated_in DOID:0110230 cataract 34 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6610 LIM2 is_implicated_in DOID:0110263 cataract 19 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5028 HNMT is_not_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10898922 20111103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_implicated_in DOID:0050933 ovarian serous carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16627982 20080527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14334 MRTFA is_implicated_in DOID:8761 acute megakaryocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11431691 20070221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0110640 congenital muscular dystrophy due to LMNA mutation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0110640 congenital muscular dystrophy due to LMNA mutation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24508248 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:9146 visceral leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23291585 20210621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_implicated_in DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12530118 20100921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4699 GYG1 is_implicated_in DOID:2747 glycogen storage disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5294 HTR2B is_implicated_in DOID:0080547 metabolic dysfunction-associated steatohepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33081272 20231110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4799 HADH is_implicated_in DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18625651 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25154742 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6357 KLK1 is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15167446 20061024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:480 movement disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16160620 20110912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11352862 20170309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22234881 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:51586 LINC01595 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19914098 20190318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6826 MAN2B1 is_implicated_in DOID:3413 alpha-mannosidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:1307 dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16983186 20150619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14533660 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21472143 20210517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6180 ITPR1 is_implicated_in DOID:0050978 spinocerebellar ataxia type 29 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6050 IMPA1 is_implicated_in DOID:0081221 autosomal recessive intellectual developmental disorder 59 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:2723 dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7573371 20131028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17071 KDM4C is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15805246 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15561 IL36RN is_implicated_in DOID:0080474 pustular psoriasis 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:9743 diabetic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19608431 20090720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19106642 20090326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6006 IL21R is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22021194 20120816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6917 MBD2 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24849540 20141104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6176 ITPA is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22009189 20160208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6188 JAG1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16934875 20120420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4084 GABRD is_implicated_in DOID:0111292 idiopathic generalized epilepsy 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30291871 20190905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18219832 20110328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:3717 gastric adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9506344 20210621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5209 HSD11B2 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11916625 20090618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4288 GJB6 is_implicated_in DOID:2121 ectodermal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11017065 20070216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19060480 20231114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6005 IL21 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18802358 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:1273 respiratory syncytial virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18043444 20101207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:12559 idiopathic juvenile osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22487062 20170320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7128 MLH3 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7013 MEOX1 is_implicated_in DOID:0080590 Klippel-Feil syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25837155 20170303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:2224 essential thrombocythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23130336 20151222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7197 MOG is_implicated_in DOID:8986 narcolepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15227729 20061104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6909 MATN3 is_implicated_in DOID:0070299 multiple epiphyseal dysplasia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4400 GNB3 is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12624279 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18679013 20090724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15265369 20090724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28242 HPDL is_implicated_in DOID:0112346 hereditary spastic paraplegia 83 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201007 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19347979 20220629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4214 GDF1 is_implicated_in DOID:0060772 multiple types of congenital heart defects 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:12859 choreatic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17559688 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16313300 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6121 IRF6 is_implicated_in DOID:0060239 Van der Woude syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_implicated_in DOID:3587 pancreatic ductal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16844323 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18869 GGN is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:1123 spondyloarthropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2257626 20131023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:1993 rectum cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22371331 20220330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6487 LAMB2 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34143713 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0050567 orofacial cleft ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11505167 20170309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4431 GOSR2 is_implicated_in DOID:0111449 progressive myoclonus epilepsy 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15520 LPAR6 is_implicated_in DOID:0110705 hypotrichosis 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220216 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15492856 20090428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:1564 fungal infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24886325 20160823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:1099 alpha thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14555303 20160725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4816 HARS1 is_implicated_in DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:0060500 drug allergy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16297214 20110923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30778 GATAD2B is_implicated_in DOID:0070048 GAND syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5432 IFNAR1 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21756311 20110809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6816 MAK is_implicated_in DOID:0110380 retinitis pigmentosa 62 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1742 LRBA is_implicated_in DOID:0081151 common variable immunodeficiency 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7154 MME is_implicated_in DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6948 MCM5 is_implicated_in DOID:0080255 Meier-Gorlin syndrome 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4298 GLB1 is_implicated_in DOID:3322 GM1 gangliosidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10737981 20170614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4298 GLB1 is_implicated_in DOID:3322 GM1 gangliosidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17309651 20170614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17237562 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20051322 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16873 FIG4 is_implicated_in DOID:0110184 Charcot-Marie-Tooth disease type 4J ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17444587 20100914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9834266 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5136 HOXD13 is_implicated_in DOID:0110972 brachydactyly type E1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19960 KIAA0586 is_implicated_in DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24782180 20151029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4274 GJA1 is_implicated_in DOID:0080249 erythrokeratodermia variabilis et progressiva 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16378661 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16741934 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:0112225 BH4-deficient hyperphenylalaninemia B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7326 MSH3 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6257 KCNJ11 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15292329 20070531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5135 HOXD12 is_implicated_in DOID:11836 clubfoot ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16331564 20170208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12624489 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4224 GDF9 is_implicated_in DOID:0080871 primary ovarian insufficiency 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7108 MKKS is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10973251 20070419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7108 MKKS is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15483080 20070419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18039 KDM5B is_implicated_in DOID:0081226 autosomal recessive intellectual developmental disorder 65 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:93 language disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20649982 20160928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_not_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11561111 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3801 FOXC2 is_implicated_in DOID:530 eyelid disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15523639 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_not_implicated_in DOID:552 pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19900796 20100917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15461 MANF is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9174057 20100610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6174 ITM2B is_implicated_in DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9646842 20140407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4964 HLA-G is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15611928 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4964 HLA-G is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6990 MECP2 is_implicated_in DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231011 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4706 GYS1 is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17356695 20090911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20522205 20101206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:591 phobic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8832771 20170201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18121 MFRP is_implicated_in DOID:10629 microphthalmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23742260 20161017 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:299 adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15688187 20070425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4174 GATA6 is_implicated_in DOID:0050651 atrioventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18365 IFNL3 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24304453 20160815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4837 HCCS is_implicated_in DOID:0111808 linear skin defects with multiple congenital anomalies 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20335620 20140113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4801 HADHA is_implicated_in DOID:0111277 mitochondrial trifunctional protein deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15927971 20140113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15455 MBTPS2 is_implicated_in DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4507 GABBR2 is_implicated_in DOID:0080291 developmental and epileptic encephalopathy 59 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6412 KRT1 is_implicated_in DOID:0050428 nonepidermolytic palmoplantar keratoderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15840 KMT2B is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20808730 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6266 KCNJ5 is_implicated_in DOID:446 primary hyperaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_implicated_in DOID:0060081 triple-receptor negative breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32923150 20210922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16799707 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11349219 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6701 LRPAP1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11425005 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:2998 testicular cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9111193 20121018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30093645 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5005 HMGCL is_implicated_in DOID:9252 amino acid metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8440722 20070206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6296 KCNQ2 is_implicated_in DOID:0080462 developmental and epileptic encephalopathy 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6251 KCNH2 is_implicated_in DOID:0110645 long QT syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6901 MASP1 is_implicated_in DOID:0060575 3MC syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16784756 20111020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4400 GNB3 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18656447 20090914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 is_implicated_in DOID:9206 Barrett's esophagus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19321798 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6701 LRPAP1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12394648 20061030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6486 LAMB1 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15523497 20070508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:0050117 disease by infectious agent ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22444663 20140718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6024 IL7R is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9843216 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4170 GATA1 is_implicated_in DOID:0112156 X-linked dyserythropoietic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7230 MRE11 is_implicated_in DOID:1993 rectum cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26735576 20220301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7216 MPI is_implicated_in DOID:0080554 congenital disorder of glycosylation Ib ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:3770 pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18637104 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3701 FHIT is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9635574 20181001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4933 HLA-C is_implicated_in DOID:9415 allergic asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28380482 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4196 GCKR is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12739015 20070813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19034 MAST1 is_implicated_in DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190417 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5155 HPN is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6897 MARK3 is_implicated_in DOID:0070356 visual impairment and progressive phthisis bulbi ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190724 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23405 LRMDA is_implicated_in DOID:0070100 oculocutaneous albinism type VII ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19439 KCNK18 is_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220216 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29682 GFM2 is_implicated_in DOID:0111475 combined oxidative phosphorylation deficiency 39 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190515 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6416 KRT14 is_implicated_in DOID:0111342 dermatopathia pigmentosa reticularis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:8869 neuromyelitis optica ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21908482 20200722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:8869 neuromyelitis optica ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27049564 20200722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15855027 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21890078 20170309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25033 LRTOMT is_implicated_in DOID:0110515 autosomal recessive nonsyndromic deafness 63 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6511 LARGE1 is_implicated_in DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12966029 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6511 LARGE1 is_implicated_in DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14373 GLMN is_implicated_in DOID:11294 arteriovenous malformation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11845407 20070110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:576 proteinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12138282 20121107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:574 peripheral nervous system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17684475 20110908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3683 FGF5 is_implicated_in DOID:0111566 familial isolated trichomegaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17582 KAT6B is_implicated_in DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17582 KAT6B is_implicated_in DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22077973 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3801 FOXC2 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12540636 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18364273 20100914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6193 JAK3 is_implicated_in DOID:0050458 juvenile myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23832011 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20145 GPR143 is_implicated_in DOID:0050633 ocular albinism 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19731237 20200514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21907168 20200514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25850245 20160315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7315 MS4A1 is_implicated_in DOID:0081148 common variable immunodeficiency 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190710 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15718477 20110420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7173 MMP3 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15467919 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4171 GATA2 is_implicated_in DOID:0111947 immunodeficiency 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23452 LIPN is_implicated_in DOID:0060717 autosomal recessive congenital ichthyosis 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14744747 20220622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:37212 KLLN is_implicated_in DOID:0081000 Cowden syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180829 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_implicated_in DOID:4441 dysgerminoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10362788 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20402821 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19664521 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4177 GBA1 is_implicated_in DOID:0110958 Gaucher's disease type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:13550 angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18334963 20131209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30546 FDX2 is_implicated_in DOID:699 mitochondrial myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6161 ITGB6 is_implicated_in DOID:0110064 amelogenesis imperfecta type 1H ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA is_implicated_in DOID:0112313 brain small vessel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17951283 20120306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22942567 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:2703 synovitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12889998 20160202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28221473 20151012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22487578 20151012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18829 KLHL10 is_implicated_in DOID:0070180 spermatogenic failure 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7391 MSX1 is_implicated_in DOID:6678 tooth and nail syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6776 MAF is_implicated_in DOID:0111688 Ayme-Gripp syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4162 GARS1 is_implicated_in DOID:0111204 obsolete distal hereditary motor neuronopathy type 5A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26521 LOXHD1 is_implicated_in DOID:11555 Fuchs' endothelial dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22341973 20170717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23026 GNPTG is_implicated_in DOID:3343 glycoproteinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10712439 20070112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28557 KLHDC8B is_implicated_in DOID:8567 Hodgkin's lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11511301 20121018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16020292 20131213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4696 GUSB is_implicated_in DOID:12803 Sly syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0050748 marginal zone lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16234023 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4220 GDF5 is_implicated_in DOID:0110964 brachydactyly type A1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20683927 20170127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6621 LIPE is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17318300 20070517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4585 GRIN2A is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12809987 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12651073 20201222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1395 schistosomiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16709874 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:11166 Human papillomavirus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16360200 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29941 GATAD1 is_implicated_in DOID:0110441 dilated cardiomyopathy 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6116 IRF1 is_implicated_in DOID:8736 smallpox ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18454680 20210303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18926055 20100914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_implicated_in DOID:0060473 Kabuki syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17653713 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15009387 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7576003 20120328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6224 KCNA5 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17267549 20070821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:10140 dry eye syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22128229 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4087 GABRG2 is_implicated_in DOID:1825 childhood absence epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12117362 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20445 MBD6 is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23055267 20161025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:12185 otosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22471616 20131004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4651 GTF2E2 is_implicated_in DOID:0111872 nonphotosensitive trichothiodystrophy 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12918 thromboangiitis obliterans ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32567246 20230925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14880 GTPBP3 is_implicated_in DOID:0111500 combined oxidative phosphorylation deficiency 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6263 KCNJ2 is_implicated_in DOID:1029 familial periodic paralysis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12045162 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28900078 20231109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4053 ISG15 is_implicated_in DOID:0111934 immunodeficiency 38 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16634865 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29715107 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4912 HINT1 is_implicated_in DOID:0050526 Gamstorp-Wohlfart syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:3138 acanthosis nigricans ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18583390 20161207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:3138 acanthosis nigricans ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10377013 20161207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16961137 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25799 GUF1 is_implicated_in DOID:0080427 developmental and epileptic encephalopathy 40 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6954 MCPH1 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20638839 20141105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4953 HLA-DRB5 is_implicated_in DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25169964 20201118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:0080820 occupational asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24709764 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5960 IKBKB is_implicated_in DOID:0111959 immunodeficiency 15B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1092 FOXL2 is_implicated_in DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11175783 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1092 FOXL2 is_implicated_in DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20297661 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0060500 drug allergy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11007341 20110926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0060284 paroxysmal nocturnal hemoglobinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12070003 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13586 FBXO7 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26223426 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22932 GMPPB is_implicated_in DOID:0111233 congenital muscular dystrophy-dystroglycanopathy A14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0111788 Melnick-Needles syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200408 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:13001 carotid stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16804000 20061130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5439 IFNGR1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19544176 20110419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6783 MAG is_implicated_in DOID:0110820 hereditary spastic paraplegia 75 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4283 GJB1 is_implicated_in DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21675 FSIP2 is_implicated_in DOID:0111911 spermatogenic failure 34 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:0080348 Alzheimer's disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25151357 20141022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6218 KCNA1 is_implicated_in DOID:0050989 episodic ataxia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7001 MEIS2 is_implicated_in DOID:8927 learning disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24678003 20221019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_not_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9002937 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29239 INTU is_implicated_in DOID:0050592 asphyxiating thoracic dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6427 KRT17 is_implicated_in DOID:0111556 steatocystoma multiplex ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5991 IL1A is_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23645090 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6010 IL2RG is_implicated_in DOID:628 combined T cell and B cell immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23348713 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30922 LINS1 is_implicated_in DOID:0081193 autosomal recessive intellectual developmental disorder 27 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_not_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22663548 20140328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20672314 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6708 LSS is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26200341 20210521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19035188 20220622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6623 LIPG is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16023652 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6391 KIF22 is_implicated_in DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3808 FOXE3 is_implicated_in DOID:0080607 anterior segment dysgenesis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6935 MCC is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6299 KCNQ5 is_implicated_in DOID:0080237 autosomal dominant intellectual developmental disorder 46 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15802 GATA5 is_implicated_in DOID:0080332 bicuspid aortic valve disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24638895 20221005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_not_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19877036 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6006 IL21R is_implicated_in DOID:12177 common variable immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18254984 20120817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:11713 diabetic angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23376458 20131022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:0080827 human cytomegalovirus infection ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25253288 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25947 KLHL24 is_implicated_in DOID:0080326 familial hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230215 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:2871 endometrial carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8960147 20180808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6714 LTBP1 is_implicated_in DOID:3144 cutis laxa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210728 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23064 GSTO2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14570706 20110914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4921 HIVEP2 is_implicated_in DOID:0070073 autosomal dominant intellectual developmental disorder 43 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6881 MAPK8 is_implicated_in DOID:2058 chronic mucocutaneous candidiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31784499 20210826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6490 LAMB3 is_implicated_in DOID:0110054 amelogenesis imperfecta type 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5969 IL12A is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27819525 20200420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4702 GYPA is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23696856 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4081 GABRB1 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16770606 20120320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20663564 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27468578 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12498973 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:11832 visual epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17596285 20160318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:0050331 lacrimoauriculodentodigital syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7001 MEIS2 is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30291340 20221019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_implicated_in DOID:13025 retinopathy of prematurity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18787502 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21212706 20131209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20642202 20140721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11630 HNF1B is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6973 MDM2 is_not_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22668018 20160504 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21993476 20120711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17655 GREM2 is_implicated_in DOID:0050591 tooth agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:752 GET3 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24547735 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7159 MMP13 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12392760 20061113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:12134 factor VIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23716558 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20554746 20211001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17356712 20070418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28340949 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25893807 20200724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11022854 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15622476 20210601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:9849 Meniere's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12542204 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6062 ING1 is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10866301 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4298 GLB1 is_implicated_in DOID:0111392 mucopolysaccharidosis type IVB ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25155 HOGA1 is_implicated_in DOID:0111672 primary hyperoxaluria type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1226 GIPC1 is_implicated_in DOID:0081298 oculopharyngodistal myopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200722 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10680782 20170314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17437619 20170314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23932298 20170314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1968 LYST is_implicated_in DOID:2935 Chediak-Higashi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6414 KRT12 is_implicated_in DOID:2566 corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9171831 20070301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17893434 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9802272 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22816799 20140818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6898 MARS1 is_implicated_in DOID:0111866 trichothiodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6697 LRP5 is_implicated_in DOID:0110937 autosomal dominant osteopetrosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:986 alopecia areata ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24446726 20140521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30563911 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4933 HLA-C is_implicated_in DOID:0111286 psoriasis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190904 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5440 IFNGR2 is_implicated_in DOID:0111995 immunodeficiency 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:4183 pseudopseudohypoparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18043 MCM10 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210526 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15461 MANF is_not_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17072959 20100610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19152241 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13315 HDAC8 is_implicated_in DOID:0060814 Wilson-Turner syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22889856 20170817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33928374 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20305143 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:11695 portal vein thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24758241 20191014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24555 INTS1 is_implicated_in DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191016 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19471602 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4893 HGF is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16723436 20140311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:1184 nephrotic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14760799 20121204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6138 ITGA2B is_not_implicated_in DOID:0060574 von Willebrand's disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16409463 20160208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13176 IKZF1 is_implicated_in DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22699455 20160505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7225 MPZ is_implicated_in DOID:0110157 Charcot-Marie-Tooth disease type 2J ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16635594 20061127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18608 LRRK1 is_implicated_in DOID:0081111 osteosclerotic metaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211222 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6145 ITGA9 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20479155 20180529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6009 IL2RB is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20860503 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5344 ICAM1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16978373 20070628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25541958 20190522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6011 IL3 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20332709 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25897 MFSD2A is_implicated_in DOID:0070277 primary autosomal recessive microcephaly 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:13166 allergic bronchopulmonary aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11474427 20140718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:13166 allergic bronchopulmonary aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16487239 20140718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19321798 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6600 LIG3 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19147782 20100330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18865 KCNT1 is_implicated_in DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21072 MANEA is_implicated_in DOID:2030 anxiety disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24473444 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7328 MSH5 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28093084 20210430 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15006924 20110902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5238 HSPA5 is_implicated_in DOID:0090145 dopamine beta-hydroxylase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21209083 20120117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_implicated_in DOID:1579 respiratory system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16550341 20101001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20406 KRT6C is_implicated_in DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6062 ING1 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5246 HSPB1 is_implicated_in DOID:0111207 autosomal dominant distal hereditary motor neuronopathy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4798 HABP2 is_implicated_in DOID:0111907 thrombophilia due to thrombin defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11298547 20140128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_not_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19416237 20140721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:0050827 rheumatic heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16426242 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:0050827 rheumatic heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17578051 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16025481 20131106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31923 LCA5 is_implicated_in DOID:0110215 Leber congenital amaurosis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:104 bacterial infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16987934 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5021 FOXA1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27050876 20220330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:0050827 rheumatic heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16043936 20061208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7105 MITF is_implicated_in DOID:0090002 Tietz syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3686 FGF8 is_implicated_in DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190904 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24936872 20160804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3762 FLRT3 is_implicated_in DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:27310 FLCN is_implicated_in DOID:0080218 primary spontaneous pneumothorax ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180523 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16882 HCN4 is_implicated_in DOID:13884 sick sinus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21202 KIF6 is_not_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21871624 20230331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29636 MNS1 is_implicated_in DOID:0050545 visceral heterotaxy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200812 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7381 MST1R is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201104 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6553 LEP is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15910756 20071203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5974 IL13RA1 is_not_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22045834 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:1495 cystic echinococcosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22308705 20200724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15533732 20061031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:13963 nuclear senile cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19329528 20230605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:0060581 Noonan syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17910045 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25917266 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6207 JUP is_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10902626 20070306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:848 arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20472930 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_not_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20808730 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3622 FKTN is_implicated_in DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17044012 20170110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6430 KRT18 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9011570 20070508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:9743 diabetic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29154870 20230523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17315188 20160818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7218 MPO is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19731237 20200512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:55085 HRURF is_implicated_in DOID:0110701 hypotrichosis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210407 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30734130 20190927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3765 FLT3 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33075166 20210720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:2913 acute pancreatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27173345 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20145 GPR143 is_implicated_in DOID:0111795 congenital nystagmus 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_implicated_in DOID:11847 coronary thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15306180 20230822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18626 IFT27 is_implicated_in DOID:0110141 Bardet-Biedl syndrome 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6015 IL4R is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9392697 20160818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4247 GGCX is_not_implicated_in DOID:11249 vitamin K deficiency bleeding ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11154138 20160309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:8986 narcolepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11179016 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4379 GNA11 is_implicated_in DOID:0090108 autosomal dominant hypocalcemia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11114 KDM5C is_implicated_in DOID:12190 descending colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30018131 20220227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:2862 glucosephosphate dehydrogenase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15718915 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5382 IDH1 is_not_implicated_in DOID:4928 intrahepatic cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26245674 20190920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6291 KCNN2 is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4329 GLRB is_implicated_in DOID:0060697 hyperekplexia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6091 INSR is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18925540 20090528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4938 HLA-DPA1 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10203020 20190619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13586 FBXO7 is_implicated_in DOID:0060372 Parkinson's disease 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26988 METTL23 is_implicated_in DOID:0081208 autosomal recessive intellectual developmental disorder 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23806793 20200408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_implicated_in DOID:0050660 Beare-Stevenson cutis gyrata syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6340 KIR3DS1 is_implicated_in DOID:0040086 Polyomavirus-associated nephropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23486513 20210817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15470475 20131107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23808178 20131004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16331578 20081103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17916905 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20616161 20180105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:8691 mycosis fungoides ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15761416 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5542 IGHMBP2 is_implicated_in DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6600 LIG3 is_implicated_in DOID:0070451 mitochondrial DNA depletion syndrome 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220330 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18483 LIPH is_implicated_in DOID:0110704 hypotrichosis 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 is_implicated_in DOID:670 amphetamine abuse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27967329 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:1790 malignant mesothelioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7606714 20131216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13312 GSTO1 is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15917099 20110914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5981 IL17A is_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24919468 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18867 KCNU1 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:0080750 erythema nodosum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12198697 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5241 HSPA8 is_implicated_in DOID:1073 renal hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21475814 20130423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6318 KIF2A is_implicated_in DOID:0090134 complex cortical dysplasia with other brain malformations 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15646 KLHL7 is_implicated_in DOID:0080331 cold-induced sweating syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24587 HYCC1 is_implicated_in DOID:0060793 hypomyelinating leukodystrophy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31042 GREB1L is_implicated_in DOID:0050564 autosomal dominant nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6528 LCP1 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14201 JPH1 is_implicated_in DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6554 LEPR is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23090836 20200218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6882 MAPK8IP1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:13258 typhoid fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11120931 20200716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17082 MLC1 is_implicated_in DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180711 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16801331 20120928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12679424 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6125 IRS1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14633864 20130117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4174 GATA6 is_implicated_in DOID:6419 tetralogy of Fallot ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6396 KPNA3 is_implicated_in DOID:0070457 hereditary spastic paraplegia 88 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221123 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6116 IRF1 is_implicated_in DOID:3717 gastric adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9679752 20070226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6859 MAP3K7 is_implicated_in DOID:0111785 frontometaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27426733 20221115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4323 GLO1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21738003 20130415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12404952 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4593 GRM1 is_implicated_in DOID:0080286 spinocerebellar ataxia 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6338 KIR3DL1 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28225833 20200918 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13875 FOXP2 is_implicated_in DOID:4186 articulation disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20923434 20160927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10713364 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 is_implicated_in DOID:9206 Barrett's esophagus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25447851 20161109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6292 KCNN3 is_implicated_in DOID:1229 paranoid schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12007452 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5233 HSPA1B is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18299791 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31880 MIR423 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30289085 20230320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3722 FKBP6 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221102 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:0080746 Sweet syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 is_implicated_in DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190703 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16147 MCM8 is_implicated_in DOID:0080867 primary ovarian insufficiency 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:13141 uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21846945 20140328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16648144 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29110 KIAA0753 is_implicated_in DOID:0050777 Joubert syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210825 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4962 HLA-E is_implicated_in DOID:0080820 occupational asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24709764 20180222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:988 mitral valve prolapse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8894996 20131022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:14040 autoimmune polyendocrine syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16254435 20110816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1184 FERRY3 is_implicated_in DOID:0081227 autosomal recessive intellectual developmental disorder 66 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_implicated_in DOID:0060789 hypomyelinating leukodystrophy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_implicated_in DOID:0060789 hypomyelinating leukodystrophy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18571143 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6016 IL5 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18687755 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_not_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22234881 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:2152 ovary epithelial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17084623 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18270 HHAT is_implicated_in DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16955210 20101130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6132 ISL1 is_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32771629 20230405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4910 HIF1A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16046581 20140806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10680782 20110912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:13025 retinopathy of prematurity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24033735 20131022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25202401 20160826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16028 IL33 is_implicated_in DOID:750 peptic ulcer disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31491552 20201014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5541 IGHM is_implicated_in DOID:0081136 agammaglobulinemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10807873 20061106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:417 autoimmune disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21744463 20110811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5009 HMGA2 is_implicated_in DOID:14681 Silver-Russell syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4433 GOT2 is_implicated_in DOID:0080715 developmental and epileptic encephalopathy 82 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:6196 reactive arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10648455 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_implicated_in DOID:1245 vulva cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12543794 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10491370 20061117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3689 FGFR2 is_not_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11069376 20080214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17797 MAP3K20 is_implicated_in DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6267 KCNJ6 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20220551 20120511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16877 MFN2 is_implicated_in DOID:0080068 Charcot-Marie-Tooth disease type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16437557 20070419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19959685 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18365 IFNL3 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23145809 20160815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6679 LPP is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_implicated_in DOID:2893 cervix carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17234722 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4114 GAL is_implicated_in DOID:0060754 familial temporal lobe epilepsy 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15805 GCNA is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6158 ITGB4 is_implicated_in DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6584 LHB is_implicated_in DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5358 IRF8 is_implicated_in DOID:0111985 immunodeficiency 32B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18073300 20140328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:10603 glucose intolerance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15277395 20070423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4238 GFI1B is_implicated_in DOID:0111049 platelet-type bleeding disorder 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_not_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18061666 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5017 HMX1 is_implicated_in DOID:0060482 oculoauricular syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4087 GABRG2 is_implicated_in DOID:0111298 familial febrile seizures 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190605 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23747403 20140113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29007 FRMPD4 is_implicated_in DOID:0112018 non-syndromic X-linked intellectual disability 104 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3688 FGFR1 is_implicated_in DOID:0111337 Jackson-Weiss syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20439102 20101230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28214 FRMD5 is_implicated_in DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221102 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0050840 cervical dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20843162 20110811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30497 KIF7 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26602496 20161013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33914 MINAR2 is_implicated_in DOID:0050565 autosomal recessive nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230215 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4037 FYN is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14999081 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A is_implicated_in DOID:594 panic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20817074 20111129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20672314 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17327437 20070515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3670 FGF13 is_implicated_in DOID:0070381 developmental and epileptic encephalopathy 90 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28741 ILDR1 is_implicated_in DOID:0110500 autosomal recessive nonsyndromic deafness 42 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6833 MAOA is_not_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15088153 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28927 KRT71 is_implicated_in DOID:0110710 hypotrichosis 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:10772 thrombotic thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19922436 20160328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:888 KIF1A is_implicated_in DOID:2476 hereditary spastic paraplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28362824 20170710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1245 vulva cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12543794 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13243 LMBR1 is_implicated_in DOID:0111564 hypoplastic or aplastic tibia with polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4298 GLB1 is_implicated_in DOID:0080502 GM1 gangliosidosis type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190306 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6724 LUM is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19843670 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:0050860 colorectal adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20375710 20140303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6002 IL20 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21109726 20110803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3800 FOXC1 is_implicated_in DOID:0080608 anterior segment dysgenesis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17071 KDM4C is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22483639 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:3069 malignant astrocytoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16247081 20070309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15191941 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:0111461 cardiofaciocutaneous syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:0111530 linear nevus sebaceous syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6021 IL6ST is_implicated_in DOID:0080596 hyper IgE recurrent infection syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5031 HNRNPA1 is_implicated_in DOID:0111189 distal myopathy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230823 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19125 FGD4 is_implicated_in DOID:0110192 Charcot-Marie-Tooth disease type 4H ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16227674 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:8632 Kaposi's sarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4400 GNB3 is_not_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16908025 20090914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21103062 20110308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3702 FHL1 is_implicated_in DOID:0080090 reducing body myopathy 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5261 HSPD1 is_implicated_in DOID:0110766 hereditary spastic paraplegia 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:820 myocarditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19127454 20110815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31648 MIR96 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23906647 20161018 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:3234 central nervous system lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22628023 20131001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20345872 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18427198 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6142 ITGA6 is_implicated_in DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_not_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22401717 20130128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6943 MCL1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27264345 20220215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4218 GDF3 is_implicated_in DOID:0080591 Klippel-Feil syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4795 H6PD is_implicated_in DOID:0090141 cortisone reductase deficiency 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180802 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4601 GRN is_implicated_in DOID:0050784 primary progressive multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20463744 20111031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6848 MAP3K1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21636554 20220112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6251 KCNH2 is_implicated_in DOID:2843 long QT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15840476 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6132 ISL1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11978668 20090625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19786980 20160201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31673 GRXCR1 is_implicated_in DOID:0110483 autosomal recessive nonsyndromic deafness 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5208 HSD11B1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15452033 20230629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12850485 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31825269 20230626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:11656 cicatricial pemphigoid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9008223 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:11656 cicatricial pemphigoid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9683867 20131203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_not_implicated_in DOID:341 peripheral vascular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15175819 20061116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5961 IKBKG is_implicated_in DOID:0112003 immunodeficiency 33 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16614121 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6501 LAMP2 is_implicated_in DOID:0050437 Danon disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7114 MKRN3 is_implicated_in DOID:0112309 central precocious puberty 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29136 KDM4B is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210526 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:12148 alveolar echinococcosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9756400 20200723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6685 LRAT is_implicated_in DOID:0110188 Leber congenital amaurosis 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5465 IGF1R is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21047277 20130423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7097 MIF is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17585860 20101230 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20661602 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17071 KDM4C is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20410850 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:2018 hyperinsulinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9667398 20070522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:216 dental caries ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29594988 20190916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4317 GLI1 is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26715268 20220208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_not_implicated_in DOID:1240 leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18414197 20160125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19857 ISCA2 is_implicated_in DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10449435 20101202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3823 FOXP1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26460480 20161110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15823277 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_not_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20551628 20121025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:0050168 autoimmune polyendocrine syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21388354 20110811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6137 ITGA2 is_implicated_in DOID:0060573 von Willebrand's disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15226188 20160824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4076 GABRA2 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4393 GNAT1 is_implicated_in DOID:0110714 congenital stationary night blindness 1G ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5013 HMOX1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17991645 20160203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9639 HACD1 is_implicated_in DOID:0081337 congenital myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220810 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4953 HLA-DRB5 is_implicated_in DOID:639 acute disseminated encephalomyelitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15201511 20201119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22932 GMPPB is_implicated_in DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5461 IGBP1 is_implicated_in DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18121 MFRP is_implicated_in DOID:0080634 nanophthalmos ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11454644 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30860 LSM11 is_implicated_in DOID:0050629 Aicardi-Goutieres syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210825 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7414 MT-ATP6 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12618962 20110913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_implicated_in DOID:13714 anodontia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24351915 20170720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6055 IMPG1 is_implicated_in DOID:0050661 vitelliform macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:2988 antiphospholipid syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11157139 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15889 FERMT1 is_implicated_in DOID:2731 vesiculobullous skin disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12668616 20070307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4392 GNAS is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17062894 20161206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5956 IHH is_implicated_in DOID:0111816 syndactyly type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21167467 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:0111363 Heinz body anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2599881 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:0111363 Heinz body anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6343 KITLG is_implicated_in DOID:0110590 autosomal dominant nonsyndromic deafness 69 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5208 HSD11B1 is_implicated_in DOID:0090140 cortisone reductase deficiency 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6081 INS is_implicated_in DOID:0060639 permanent neonatal diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4593 GRM1 is_implicated_in DOID:0080062 autosomal recessive spinocerebellar ataxia 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4689 GUCY2D is_implicated_in DOID:0111011 cone-rod dystrophy 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4226 GDI1 is_implicated_in DOID:0112058 non-syndromic X-linked intellectual disability 41 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:13001 carotid stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12364729 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4388 GNAL is_implicated_in DOID:0090055 dystonia 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7108 MKKS is_implicated_in DOID:0111255 McKusick-Kaufman syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5294 HTR2B is_implicated_in DOID:9452 steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33081272 20231110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24678 FTO is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20400278 20230622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:13608 biliary atresia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30059753 20190705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14673 FYCO1 is_implicated_in DOID:0110238 cataract 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:480 movement disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19051221 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:13636 Fanconi anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16173971 20160121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19698 KCNV2 is_implicated_in DOID:0081022 retinal cone dystrophy 3B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6217 KATNB1 is_implicated_in DOID:0112236 lissencephaly 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25599 INAVA is_implicated_in DOID:0112155 inflammatory bowel disease 29 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200311 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:5688 Werner syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12927431 20170228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23932298 20170310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6443 KRT6A is_implicated_in DOID:0050449 pachyonychia congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5295 HTR2C is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8742444 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:11724 limb-girdle muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14523375 20170119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6693 LRP1B is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31164891 20210928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3618 FCGR2B is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4271 GIPR is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19254363 20090825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5154 HPGD is_implicated_in DOID:14283 primary hypertrophic osteoarthropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7459 MT-ND4 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19434233 20111019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:2152 ovary epithelial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17084623 20080616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28900078 20231109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7462 MT-ND6 is_implicated_in DOID:3652 Leigh disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20019223 20120419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28380482 20180223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6242 KCNE2 is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6898 MARS1 is_implicated_in DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20180006 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9818947 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30171 HSPB8 is_implicated_in DOID:0111208 obsolete distal hereditary motor neuronopathy type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:0111359 large congenital melanocytic nevus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_implicated_in DOID:8725 vascular dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15832029 20151023 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4620 GSN is_implicated_in DOID:0050637 Finnish type amyloidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4931 HLA-A is_implicated_in DOID:0050426 Stevens-Johnson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:686 liver carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28763918 20191001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0060071 pre-malignant neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28182092 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3498 MECOM is_implicated_in DOID:0070004 myeloid neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9044825 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6220 KCNA2 is_implicated_in DOID:0080416 developmental and epileptic encephalopathy 32 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4010 FUS is_implicated_in DOID:1289 neurodegenerative disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21908872 20111110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15144709 20140722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5232 HSPA1A is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21993476 20120711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23568549 20140226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7155 MMP1 is_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20935575 20140717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29670 GNPTAB is_implicated_in DOID:0080071 mucolipidosis III alpha/beta ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5233 HSPA1B is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15223990 20070814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3668 FGF12 is_implicated_in DOID:0080425 developmental and epileptic encephalopathy 47 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7217 MPL is_implicated_in DOID:2224 essential thrombocythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14764528 20151211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4263 GHR is_implicated_in DOID:5353 colonic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19864451 20150518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6859 MAP3K7 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17785553 20080725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:10933 obsessive-compulsive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15901 IFT52 is_implicated_in DOID:0050592 asphyxiating thoracic dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18129 GHRL is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21472143 20210517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26219 FUZ is_implicated_in DOID:0080074 neural tube defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6358 KLK10 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11920956 20091130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6407 KRAS is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17056636 20070309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6215 KARS1 is_implicated_in DOID:0110534 autosomal recessive nonsyndromic deafness 89 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3754 FLNA is_implicated_in DOID:0112149 terminal osseous dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:1024 leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19280228 20121029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5970 IL12B is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19279357 20101103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4563 GRAP2 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15063762 20210423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5286 HTR1A is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21512427 20111129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_not_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20331879 20140521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:0111366 familial hepatic adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190313 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3661 FGA is_implicated_in DOID:0050636 familial visceral amyloidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_not_implicated_in DOID:0070004 myeloid neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23845539 20151223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:0050748 marginal zone lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16234023 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29110 KIAA0753 is_implicated_in DOID:4501 orofaciodigital syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4922 HK1 is_implicated_in DOID:2861 congenital nonspherocytic hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7655856 20070424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6442 KRT5 is_implicated_in DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15900487 20140204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14388 GP6 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20723028 20230824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6119 IRF4 is_implicated_in DOID:0050749 peripheral T-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18987657 20160810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20626741 20160811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5971 IL12RB1 is_implicated_in DOID:0111990 immunodeficiency 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR is_implicated_in DOID:12783 migraine without aura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12873747 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5994 IL1R2 is_implicated_in DOID:1474 aggressive periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24818754 20140626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5980 IL16 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16387589 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19061 FFAR4 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15889 FERMT1 is_implicated_in DOID:1272 telangiectasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12668616 20070307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19368 HYDIN is_implicated_in DOID:0110617 primary ciliary dyskinesia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4013 FUT2 is_implicated_in DOID:0050731 vitamin B12 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181003 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5870 IGLL1 is_implicated_in DOID:0081135 agammaglobulinemia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6844 MAP2K4 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26165383 20211001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21071 IYD is_implicated_in DOID:0112188 thyroid dyshormonogenesis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4367 GM2A is_implicated_in DOID:3321 GM2 gangliosidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10364519 20070110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15987486 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6006 IL21R is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20072140 20120813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:0112006 immunodeficiency 69 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200812 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4624 GSS is_implicated_in DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4586 GRIN2B is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16549338 20070907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23064 GSTO2 is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15917099 20110914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3771 FMO3 is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9536088 20070809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17926179 20160412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7327 MSH4 is_implicated_in DOID:0070164 spermatogenic failure 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220706 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6547 LDLR is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12209363 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_implicated_in DOID:1798 pancreatic endocrine carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14501508 20100415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16433795 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:13166 allergic bronchopulmonary aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23278646 20200717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6343 KITLG is_implicated_in DOID:9258 Waardenburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220720 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6307 KDR is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22919317 20140404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:0060532 latex allergy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15536412 20110817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4940 HLA-DPB1 is_implicated_in DOID:11166 Human papillomavirus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17349874 20210929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:0080160 Cytomegalovirus retinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11564593 20131021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:3385 bacterial vaginosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17470593 20140718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:9675 pulmonary emphysema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20525719 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6631 LMAN1 is_implicated_in DOID:2216 factor V deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9546392 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11621 HNF1A is_implicated_in DOID:0050524 maturity-onset diabetes of the young ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23674172 20211231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4638 GSTP1 is_implicated_in DOID:4961 bone marrow disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16995867 20160127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6251 KCNH2 is_implicated_in DOID:0050793 short QT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18363 IFNL1 is_implicated_in DOID:12206 dengue hemorrhagic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31981768 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:0080177 hepatic veno-occlusive disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15834437 20140804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26576 KY is_implicated_in DOID:0080098 myofibrillar myopathy 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7376 MSR1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17903305 20090320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5217 HSD3B1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12054649 20070807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21067483 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29450 GLIS2 is_implicated_in DOID:0111116 nephronophthisis 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17493 GMNN is_implicated_in DOID:0080517 Meier-Gorlin syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31042 GREB1L is_implicated_in DOID:14766 renal agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17997 FKRP is_implicated_in DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29582627 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6636 LMNA is_implicated_in DOID:6713 cerebrovascular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16117820 20090319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:106 pleural tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10377182 20100920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6833 MAOA is_implicated_in DOID:0060693 Brunner Syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4193 GCH1 is_implicated_in DOID:11713 diabetic angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19515581 20230721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3690 FGFR3 is_implicated_in DOID:0111158 SADDAN ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6021 IL6ST is_implicated_in DOID:11613 hyperandrogenism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12917504 20070817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12637 KDM6A is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25151357 20141210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7462 MT-ND6 is_implicated_in DOID:0070350 spinal muscular atrophy with lower extremity predominant 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8016139 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6132 ISL1 is_not_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23229290 20230405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4932 HLA-B is_implicated_in DOID:3875 thrombophlebitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12372094 20131011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6371 KLKB1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19307730 20130912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26087 HEATR3 is_implicated_in DOID:1339 Diamond-Blackfan anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221102 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3691 FGFR4 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25860955 20211022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3672 FGF16 is_implicated_in DOID:0111813 syndactyly type 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4396 GNB1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16252083 20080602 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6762 MAD1L1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4083 GABRB3 is_implicated_in DOID:0080447 developmental and epileptic encephalopathy 43 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_not_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28340949 20190930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20731 GNB4 is_implicated_in DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:0050426 Stevens-Johnson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28689274 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4948 HLA-DRB1 is_implicated_in DOID:3459 breast carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15382064 20091124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4093 GAD2 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19500151 20231108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4886 HFE is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30651232 20190906 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7176 MMP9 is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20808730 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3800 FOXC1 is_implicated_in DOID:1686 glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18498376 20170516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:44480 IFNL4 is_implicated_in DOID:2917 cryoglobulinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24293567 20190425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5099 HOXA1 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14960295 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22105495 20131003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25068 GATC is_implicated_in DOID:0112118 combined oxidative phosphorylation deficiency 42 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4632 GSTM1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20226777 20110922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18873 IFIH1 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220316 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6186 IVD is_implicated_in DOID:14753 isovaleric acidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7158 MMP12 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19628284 20170719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4075 GABRA1 is_implicated_in DOID:0080431 developmental and epileptic encephalopathy 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4221 GDF6 is_implicated_in DOID:0060836 isolated microphthalmia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:2988 antiphospholipid syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11157139 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6014 IL4 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20524005 20110308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14746878 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5970 IL12B is_implicated_in DOID:0060859 salmonellosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9854038 20070226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5472 IGFBP3 is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15844718 20070712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7133 KMT2D is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30121816 20221013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6709 LTA is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22294627 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6145 ITGA9 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772397 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7325 MSH2 is_not_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16614121 20210503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:3454 brain infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11798899 20110822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3951 FXN is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9588463 20090520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4284 GJB2 is_implicated_in DOID:0110564 autosomal dominant nonsyndromic deafness 3A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7227 MRAS is_implicated_in DOID:0112169 Noonan syndrome 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190731 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3702 FHL1 is_implicated_in DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4312 GCLM is_implicated_in DOID:8725 vascular dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17548779 20151022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3616 FCGR2A is_not_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23249566 20160318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4942 HLA-DQA1 is_implicated_in DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16234023 20210621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7455 MT-ND1 is_implicated_in DOID:3687 MELAS syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15466014 20110909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4243 GFRA1 is_implicated_in DOID:14766 renal agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3700 FH is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25576295 20210814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24861 G6PC3 is_implicated_in DOID:0112136 severe congenital neutropenia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6342 KIT is_implicated_in DOID:4440 seminoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10362788 20080411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19064563 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21235536 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24669 FIGLA is_implicated_in DOID:0080863 primary ovarian insufficiency 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18005 GIMAP5 is_implicated_in DOID:10762 portal hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210818 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6192 JAK2 is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20627814 20120510 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6998 MEFV is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12746942 20110328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4187 GC is_implicated_in DOID:848 arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21844150 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4798 HABP2 is_implicated_in DOID:3969 thyroid gland papillary carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5173 HRAS is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8098541 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22932 GMPPB is_implicated_in DOID:0112374 muscular dystrophy-dystroglycanopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26310427 20180627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28072 LYRM7 is_implicated_in DOID:0080117 mitochondrial complex III deficiency nuclear type 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6231 KCNB1 is_implicated_in DOID:1826 epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32954514 20210507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7029 MET is_implicated_in DOID:4465 papillary renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4553 GPX1 is_not_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25894370 20220701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3608 FCAR is_implicated_in DOID:12132 granulomatosis with polyangiitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22147912 20130326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4641 GSTT1 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16002077 20110923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2372 MED23 is_implicated_in DOID:0081190 autosomal recessive intellectual developmental disorder 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5973 IL13 is_implicated_in DOID:2723 dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23171465 20140327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5998 IL1RL1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20602249 20110802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19100 IL23R is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18368064 20140401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5438 IFNG is_implicated_in DOID:2862 glucosephosphate dehydrogenase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15718915 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4023 FXR1 is_implicated_in DOID:0081343 congenital myopathy 9A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200805 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29002 FCHO1 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6024 IL7R is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18687755 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:8689 anorexia nervosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7166 MMP2 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20484597 20140402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22219 KIAA1549 is_implicated_in DOID:0112143 retinitis pigmentosa 86 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6440 KRT3 is_implicated_in DOID:0080671 Meesmann corneal dystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4137 GAN is_implicated_in DOID:0090068 giant axonal neuropathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180221 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4827 HBB is_implicated_in DOID:8432 polycythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:4719677 20070329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6018 IL6 is_implicated_in DOID:0060901 lymphoplasmacytic lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19573080 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10457895 20110825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7059 MGMT is_implicated_in DOID:768 retinoblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15799820 20100416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3815 FOXI1 is_implicated_in DOID:0110498 autosomal recessive nonsyndromic deafness 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3619 FCGR3A is_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16846526 20110830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4944 HLA-DQB1 is_implicated_in DOID:1586 rheumatic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17559688 20110819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26527 HGSNAT is_implicated_in DOID:0111393 mucopolysaccharidosis type IIIC ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6922 MBL2 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25038892 20170627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17071 KDM4C is_implicated_in DOID:11934 head and neck cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19339270 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6055 IMPG1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210929 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6893 MAPT is_not_implicated_in DOID:4990 essential tremor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22911817 20140207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5962 IL10 is_not_implicated_in DOID:0081267 graft-versus-host disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20195716 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24054 KNL1 is_implicated_in DOID:1115 sarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31089155 20220303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16931 HYOU1 is_implicated_in DOID:0111974 immunodeficiency 59 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200826 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5293 HTR2A is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23241418 20231109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4855 HDC is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20608921 20110322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5273 HSPG2 is_implicated_in DOID:0090005 Schwartz-Jampel syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180704 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4555 GPX3 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22715394 20220627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5992 IL1B is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10025794 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6121 IRF6 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12219090 20070302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18618 LRRK2 is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21483109 20111014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5464 IGF1 is_not_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21976954 20140321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7001 MEIS2 is_implicated_in DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6000 IL1RN is_implicated_in DOID:10126 keratoconus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23462747 20140407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5986 IL18 is_implicated_in DOID:1555 urticaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21692767 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21699 CERKL is_implicated_in DOID:0110368 retinitis pigmentosa 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:34 ABCA4 is_implicated_in DOID:8466 retinal degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22661473 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19901851 20210416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2711 DCTN1 is_implicated_in DOID:0060193 amyotrophic lateral sclerosis type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2204 COL4A3 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19357112 20130322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:252 ADH4 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20077761 20231009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22989 COL22A1 is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30541770 20190102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23432218 20190425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3395 EPHB4 is_implicated_in DOID:0081030 central conducting lymphatic anomaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15860134 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:969 BBS4 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17003356 20070416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10780266 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28769 DRAM2 is_implicated_in DOID:0050572 cone-rod dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15832 BSCL2 is_implicated_in DOID:0111136 congenital generalized lipodystrophy type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180523 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:756 ASPA is_implicated_in DOID:3613 Canavan disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8252036 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:756 ASPA is_implicated_in DOID:3613 Canavan disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3026 DRD5 is_not_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15389755 20120123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:262 ADORA1 is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15257174 20070605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15478 ADAM33 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19940503 20101102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15478 ADAM33 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18778489 20101102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15478 ADAM33 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17961406 20101102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2890 DKC1 is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26360549 20160620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16876132 20240105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16395295 20240105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28472995 20240105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20188797 20240105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:171 ACVR1 is_implicated_in DOID:13374 fibrodysplasia ossificans progressiva ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26097044 20230428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:171 ACVR1 is_implicated_in DOID:13374 fibrodysplasia ossificans progressiva ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:171 ACVR1 is_implicated_in DOID:13374 fibrodysplasia ossificans progressiva ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32727600 20230428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17693525 20140908 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28416 CCDC26 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221026 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:172 ACVR1B is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33880365 20220324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27173253 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24318989 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27340861 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26499900 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2910 DLL4 is_implicated_in DOID:0060227 Adams-Oliver syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:319 ACAN is_implicated_in DOID:0112282 spondyloepiphyseal dysplasia Kimberley type ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16080123 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:319 ACAN is_implicated_in DOID:0112282 spondyloepiphyseal dysplasia Kimberley type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28358 D2HGDH is_implicated_in DOID:0111351 D-2-hydroxyglutaric aciduria 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190918 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23502783 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:9669 senile cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29156695 20210426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230927 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17213 COLEC11 is_implicated_in DOID:0060576 3MC syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28514 CEP112 is_implicated_in DOID:0112109 spermatogenic failure 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201021 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16319821 20140116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18483560 20140116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17563717 20140116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18055790 20140116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:13133 HELLP syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30066360 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:9675 pulmonary emphysema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9288046 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:9675 pulmonary emphysema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12579334 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:9675 pulmonary emphysema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20525719 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1701 CD81 is_implicated_in DOID:0081149 common variable immunodeficiency 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2244 COQ7 is_implicated_in DOID:0070245 primary coenzyme Q10 deficiency 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16820935 20220211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30346805 20220211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22674224 20140530 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17097034 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18854778 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:94 ACAT2 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16195894 20070406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1915 CHD1 is_implicated_in DOID:0080909 castration-resistant prostate carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22722839 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_not_implicated_in DOID:12185 otosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19503013 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18233 BANK1 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24127308 20141212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:987 alopecia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22014031 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1712 CDA is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18347182 20100210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1324 C4B is_implicated_in DOID:0060298 complement component 4b deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:559 AP1S1 is_implicated_in DOID:0060483 MEDNIK syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:559 AP1S1 is_implicated_in DOID:0060483 MEDNIK syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19057675 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:282 ADRA2B is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10404816 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2206 COL4A4 is_implicated_in DOID:0111365 benign familial hematuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2206 COL4A4 is_implicated_in DOID:0111365 benign familial hematuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19357112 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1393 CACNA1F is_implicated_in DOID:0050630 Aland Island eye disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17525176 20180910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1393 CACNA1F is_implicated_in DOID:0050630 Aland Island eye disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18318428 20080923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16969646 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10553500 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11037802 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21518482 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15807891 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21050 CDKAL1 is_implicated_in DOID:11714 gestational diabetes ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19002430 20091102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21771723 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25526467 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26852039 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21622582 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25422207 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2954 DNAI1 is_implicated_in DOID:0110594 primary ciliary dyskinesia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2079 CLN8 is_implicated_in DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181017 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17695467 20170508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24649009 20170508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11411 CDKL5 is_implicated_in DOID:0080467 developmental and epileptic encephalopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22678952 20180314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11411 CDKL5 is_implicated_in DOID:0080467 developmental and epileptic encephalopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3437 ERCC5 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24782167 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3437 ERCC5 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28924235 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18179894 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:700 ARNT is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27595394 20180111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26676 CFAP58 is_implicated_in DOID:0112271 spermatogenic failure 49 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210113 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21067572 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11884895 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21420 CDK20 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:12995 conduct disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10380986 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_implicated_in DOID:14735 hereditary angioedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21849258 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2898 DLD is_implicated_in DOID:9269 maple syrup urine disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1529 CAV3 is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9537420 20070207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:1168 familial hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7627691 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16194411 20141107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24069326 20141107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:0060746 basal laminar drusen ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3226 EFNB1 is_implicated_in DOID:14737 craniofrontonasal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:468 AMPD1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24508110 20230518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:468 AMPD1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11028479 20230518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1869 CETP is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10619997 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2336 CR2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:3454 brain infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17388993 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2861 DHFR is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22969948 20160307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2861 DHFR is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19861437 20160307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_not_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18251939 20140623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 is_implicated_in DOID:9743 diabetic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9489533 20140314 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_not_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20835238 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19041121 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11701 CRIPTO is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19853938 20161110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:890 AUH is_implicated_in DOID:0110002 3-methylglutaconic aciduria type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16755660 20140609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2051 CLDN9 is_implicated_in DOID:0112162 autosomal recessive nonsyndromic deafness 116 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1786 CDKN1C is_implicated_in DOID:5572 Beckwith-Wiedemann syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21653641 20111003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15821736 20111003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30664 CLPB is_implicated_in DOID:0081133 3-methylglutaconic aciduria type 7a ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220831 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14310 BRD7 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772500 20141001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2321 CPOX is_implicated_in DOID:13269 hereditary coproporphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15896662 20200427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2321 CPOX is_implicated_in DOID:13269 hereditary coproporphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12181641 20200427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2321 CPOX is_implicated_in DOID:13269 hereditary coproporphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30385147 20200427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2321 CPOX is_implicated_in DOID:13269 hereditary coproporphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9888388 20200427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2321 CPOX is_implicated_in DOID:13269 hereditary coproporphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23045 ARMC2 is_implicated_in DOID:0111919 spermatogenic failure 38 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190619 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:12574 posterior uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17417600 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25519 ANO10 is_implicated_in DOID:0050999 autosomal recessive spinocerebellar ataxia 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:564 AP2M1 is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191002 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:330 AGRP is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12213871 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:330 AGRP is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11554767 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:330 AGRP is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2509 CTNNA1 is_implicated_in DOID:0060864 patterned macular dystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:0080207 CAKUT2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21927809 20171107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24086 A1CF is_implicated_in DOID:13189 gout ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28679452 20181213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24086 A1CF is_implicated_in DOID:13189 gout ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28252667 20181213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27288 ACSF3 is_implicated_in DOID:0111263 combined malonic and methylmalonic acidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29521 C12orf57 is_implicated_in DOID:0111621 Temtamy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2482 CSTB is_implicated_in DOID:0111452 progressive myoclonus epilepsy 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191106 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18576 CCNO is_implicated_in DOID:0110600 primary ciliary dyskinesia 29 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2989 DOCK3 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14569117 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26545403 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31270100 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26621837 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17607662 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25262 C1orf167 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31175347 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17221209 20070406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11334615 20090811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22273503 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19169232 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23112567 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_not_implicated_in DOID:2044 drug-induced hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22178260 20190820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2953 DNAH9 is_implicated_in DOID:0111853 primary ciliary dyskinesia 40 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1121 BTC is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15793259 20090513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1121 BTC is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16306376 20090513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15961928 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15984 APTX is_implicated_in DOID:0050754 ataxia with oculomotor apraxia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15984 APTX is_implicated_in DOID:0050754 ataxia with oculomotor apraxia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12196655 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15984 APTX is_implicated_in DOID:0050754 ataxia with oculomotor apraxia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17572444 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15984 APTX is_implicated_in DOID:0050754 ataxia with oculomotor apraxia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21465257 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13886 ABCG5 is_implicated_in DOID:0090019 sitosterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191211 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13886 ABCG5 is_implicated_in DOID:0090019 sitosterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11452359 20191211 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18174194 20101216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_not_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23773920 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2961 DYNC1H1 is_implicated_in DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180704 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX is_implicated_in DOID:0080468 developmental and epileptic encephalopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17664401 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX is_implicated_in DOID:0080468 developmental and epileptic encephalopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3439 ERCC8 is_implicated_in DOID:2962 Cockayne syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19894250 20170808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3439 ERCC8 is_implicated_in DOID:2962 Cockayne syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21108394 20170808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA is_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA is_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11376172 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230927 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22187320 20230927 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3585 FANCD2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16679306 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:11123 Henoch-Schoenlein purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20702504 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:11123 Henoch-Schoenlein purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16521052 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:2235 prothrombin deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8839854 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:2235 prothrombin deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14629473 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:2235 prothrombin deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1349838 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16446 CARD14 is_implicated_in DOID:0080475 psoriasis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24017 AFAP1 is_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25173105 20180627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200619 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS is_implicated_in DOID:0080074 neural tube defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12649066 20070321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19865101 20150406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2553 CUL3 is_implicated_in DOID:4479 pseudohypoaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_implicated_in DOID:0060652 familial erythrocytosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9192789 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_implicated_in DOID:0060652 familial erythrocytosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8506290 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_implicated_in DOID:0060652 familial erythrocytosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20700488 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_implicated_in DOID:0060652 familial erythrocytosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11929803 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_implicated_in DOID:0060652 familial erythrocytosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10637 CXCL10 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18325387 20200519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2218 COL9A2 is_implicated_in DOID:0070298 multiple epiphyseal dysplasia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:3459 breast carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11289096 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3522 EYA4 is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15735644 20061129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3238 EGR1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18507785 20110517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16459167 20071019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 is_implicated_in DOID:0080339 familial erythrocytosis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1404 CACNB4 is_implicated_in DOID:963 episodic ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10762541 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18165636 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14757868 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21914625 20130816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23256180 20130816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2995 DPAGT1 is_implicated_in DOID:0110676 congenital myasthenic syndrome 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2022 CLCN4 is_implicated_in DOID:0112060 Raynaud-Claes syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:1474 aggressive periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21264360 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18620 COG4 is_implicated_in DOID:0070262 congenital disorder of glycosylation type IIj ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2499 CTF1 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11058912 20070806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3113 E2F1 is_implicated_in DOID:3498 pancreatic ductal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17233815 20190114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14628 CDCA7 is_implicated_in DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2219 COL9A3 is_implicated_in DOID:0070304 multiple epiphyseal dysplasia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:175 ACVRL1 is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:175 ACVRL1 is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15024723 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:175 ACVRL1 is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17219009 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:175 ACVRL1 is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18543223 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:175 ACVRL1 is_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16752392 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1324 C4B is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20452682 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:952 BARD1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17028982 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:952 BARD1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14550946 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:952 BARD1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16768547 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:952 BARD1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15695771 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30066360 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3007 DPM3 is_implicated_in DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200902 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24686516 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20554942 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25233467 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:933 BACE1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12824768 20150129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1090 DST is_implicated_in DOID:0070151 hereditary sensory and autonomic neuropathy type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2383 CRX is_implicated_in DOID:0111005 cone-rod dystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_not_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24915010 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10200023 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1171 ELP4 is_implicated_in DOID:12271 aniridia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_not_implicated_in DOID:11119 Gilles de la Tourette syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8725747 20170901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1396 CACNA1I is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28725167 20191216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1396 CACNA1I is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29308060 20191216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1754 CDH15 is_implicated_in DOID:0070033 autosomal dominant intellectual developmental disorder 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17057 CARD8 is_implicated_in DOID:0112154 inflammatory bowel disease 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:388 AKR1D1 is_implicated_in DOID:0111069 congenital bile acid synthesis defect 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 is_implicated_in DOID:13270 erythropoietic protoporphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 is_implicated_in DOID:13270 erythropoietic protoporphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18760763 20200121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 is_implicated_in DOID:13270 erythropoietic protoporphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23263862 20200121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 is_implicated_in DOID:0050977 spinocerebellar ataxia type 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26868664 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 is_implicated_in DOID:0050977 spinocerebellar ataxia type 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 is_implicated_in DOID:0050977 spinocerebellar ataxia type 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20725928 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 is_implicated_in DOID:0050977 spinocerebellar ataxia type 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20208537 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 is_implicated_in DOID:0050977 spinocerebellar ataxia type 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20354562 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 is_implicated_in DOID:0050977 spinocerebellar ataxia type 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24814845 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:221 ADAMTS5 is_not_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18240210 20150513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22183071 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17131345 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10369864 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14986169 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12780750 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10404810 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9672157 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20352109 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15785242 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2171 CNTN1 is_implicated_in DOID:0080101 Compton-North congenital myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8549 BLOC1S6 is_implicated_in DOID:0060547 Hermansky-Pudlak syndrome 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20626 CHD7 is_implicated_in DOID:0050834 CHARGE syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18073582 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20626 CHD7 is_implicated_in DOID:0050834 CHARGE syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20624498 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20626 CHD7 is_implicated_in DOID:0050834 CHARGE syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22033296 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20626 CHD7 is_implicated_in DOID:0050834 CHARGE syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23333604 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20626 CHD7 is_implicated_in DOID:0050834 CHARGE syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20626 CHD7 is_implicated_in DOID:0050834 CHARGE syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18445044 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10522 ACSM3 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12484505 20130308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25360 DDX59 is_implicated_in DOID:0060375 orofaciodigital syndrome V ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1987 CITED2 is_implicated_in DOID:0110113 atrial heart septal defect 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1464 CAMK4 is_not_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19001277 20231215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20303010 20100831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10627 CCL3 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3497 EVC is_implicated_in DOID:12714 Ellis-Van Creveld syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220926 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3497 EVC is_implicated_in DOID:12714 Ellis-Van Creveld syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10700184 20220926 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3497 EVC is_implicated_in DOID:12714 Ellis-Van Creveld syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34037314 20220926 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3497 EVC is_implicated_in DOID:12714 Ellis-Van Creveld syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29229899 20220926 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15644419 20160113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:14789 spondyloepiphyseal dysplasia congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:14789 spondyloepiphyseal dysplasia congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23079993 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:14789 spondyloepiphyseal dysplasia congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21204228 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_not_implicated_in DOID:8483 retinal artery occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12928685 20070406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2097 CMA1 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16446531 20110308 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22146151 20120710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14593914 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_implicated_in DOID:1933 Rubinstein-Taybi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_implicated_in DOID:1933 Rubinstein-Taybi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15706485 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_implicated_in DOID:1933 Rubinstein-Taybi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17220215 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10548 ATXN1 is_implicated_in DOID:0050954 spinocerebellar ataxia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180725 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25240 ANO6 is_implicated_in DOID:0111052 Scott syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_implicated_in DOID:13922 eosinophilic esophagitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26416193 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17143180 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20364586 20190826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29765251 20190826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 is_implicated_in DOID:0060887 ossification of the posterior longitudinal ligament of spine ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15834329 20170717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16980 CFHR3 is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18451143 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3522 EYA4 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15735644 20061129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33779075 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1984 CISH is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16025115 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19112571 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14211 BLNK is_implicated_in DOID:0060027 agammaglobulinemia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19706762 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20587604 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29993116 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27663783 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_not_implicated_in DOID:1407 anterior uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22714898 20131118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24323 CARTPT is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24323 CARTPT is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11522684 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 is_implicated_in DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:896 AVPR1B is_implicated_in DOID:3324 mood disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23962971 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:218 ADAMTS2 is_implicated_in DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15373769 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:218 ADAMTS2 is_implicated_in DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19575027 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A is_implicated_in DOID:10024 migraine with aura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10408532 20150805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:0050475 Weill-Marchesani syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:0050475 Weill-Marchesani syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12525539 20180822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2300 CPB2 is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19056482 20130506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19092854 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3512 EXT1 is_implicated_in DOID:206 hereditary multiple exostoses ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25421355 20170808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3512 EXT1 is_implicated_in DOID:206 hereditary multiple exostoses ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24297320 20170808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3512 EXT1 is_implicated_in DOID:206 hereditary multiple exostoses ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26839764 20170808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3512 EXT1 is_implicated_in DOID:206 hereditary multiple exostoses ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18330718 20170808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3512 EXT1 is_implicated_in DOID:206 hereditary multiple exostoses ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17767039 20170808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3512 EXT1 is_implicated_in DOID:206 hereditary multiple exostoses ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8981950 20170808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3512 EXT1 is_implicated_in DOID:206 hereditary multiple exostoses ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12490068 20170808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:2468 psychotic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10814723 20111107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:2468 psychotic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15386212 20111107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:0080611 anterior segment dysgenesis 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29748005 20210617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP is_implicated_in DOID:12119 hemosiderosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7539672 20070209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 is_implicated_in DOID:2352 hemochromatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16446107 20160212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080056 achondrogenesis type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23641913 20131118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_implicated_in DOID:2231 factor XII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20386432 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_implicated_in DOID:2231 factor XII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11248286 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_implicated_in DOID:2231 factor XII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_implicated_in DOID:2231 factor XII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18024408 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_implicated_in DOID:2231 factor XII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2510163 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:221 ADAMTS5 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22961118 20150513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19988 ANAPC1 is_implicated_in DOID:2732 Rothmund-Thomson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3706 ATP8B1 is_implicated_in DOID:1852 intrahepatic cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9500542 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21472143 20210517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3584 FANCC is_implicated_in DOID:13636 Fanconi anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16429406 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3584 FANCC is_implicated_in DOID:13636 Fanconi anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11110674 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2194 COL17A1 is_implicated_in DOID:3209 junctional epidermolysis bullosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7550320 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2194 COL17A1 is_implicated_in DOID:3209 junctional epidermolysis bullosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1058 BLM is_implicated_in DOID:2717 Bloom syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1058 BLM is_implicated_in DOID:2717 Bloom syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9388480 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1058 BLM is_implicated_in DOID:2717 Bloom syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10779560 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_implicated_in DOID:5426 primary ovarian insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24045675 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5228 DNAJB2 is_implicated_in DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:11832 visual epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19896112 20171108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18712175 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17513529 20110217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16584113 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15318095 20120104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:0080911 cerebrooculofacioskeletal syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20456449 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:0080911 cerebrooculofacioskeletal syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10739753 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:0080911 cerebrooculofacioskeletal syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21983886 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22200898 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_not_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10743824 20120228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2890 DKC1 is_implicated_in DOID:2729 dyskeratosis congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23946118 20160620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2890 DKC1 is_implicated_in DOID:2729 dyskeratosis congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9590285 20160620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2890 DKC1 is_implicated_in DOID:2729 dyskeratosis congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10364516 20160620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2890 DKC1 is_implicated_in DOID:2729 dyskeratosis congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10583221 20160620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21987080 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2186 COL11A1 is_implicated_in DOID:0050564 autosomal dominant nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231108 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3556 FABP2 is_implicated_in DOID:13001 carotid stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16013194 20061107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11319176 20150924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2648 CYP4F8 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1984 CISH is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_not_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10737710 20191212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25345946 20200326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14438 C2CD6 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220330 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_implicated_in DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8630485 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_implicated_in DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_implicated_in DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26997013 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_implicated_in DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10632111 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2396 CRYBA4 is_implicated_in DOID:0110271 cataract 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:281 ADRA2A is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19150055 20120323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:281 ADRA2A is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16178932 20120323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3529 F11 is_implicated_in DOID:2229 factor XI deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11127865 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3529 F11 is_implicated_in DOID:2229 factor XI deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10706758 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3529 F11 is_implicated_in DOID:2229 factor XI deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2813350 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3529 F11 is_implicated_in DOID:2229 factor XI deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1529 CAV3 is_implicated_in DOID:0110650 long QT syndrome 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:969 BBS4 is_implicated_in DOID:0110126 Bardet-Biedl syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26690 CEP120 is_implicated_in DOID:0080277 Joubert syndrome 31 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH is_not_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12051390 20070326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3343 EN2 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15024396 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2711 DCTN1 is_implicated_in DOID:0060486 Perry syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2711 DCTN1 is_implicated_in DOID:0060486 Perry syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20702129 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2711 DCTN1 is_implicated_in DOID:0060486 Perry syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19136952 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18318 ASXL1 is_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21712540 20160224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18318 ASXL1 is_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23619563 20160224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13916 APOM is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16572495 20091106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16538172 20170512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3097 DYSF is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9731526 20061219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2873 CYB5R3 is_implicated_in DOID:10783 methemoglobinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11295830 20070214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14872 ASPN is_not_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16542493 20141211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1069 BMP2 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17002564 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 is_implicated_in DOID:2734 keratosis follicularis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 is_implicated_in DOID:2734 keratosis follicularis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10080178 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3036 DSC2 is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25497880 20230417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2201 COL3A1 is_implicated_in DOID:14756 vascular type Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180620 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2502220 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16393 CARD11 is_implicated_in DOID:0111957 immunodeficiency 11A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:90 degenerative disc disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19180518 20120227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_not_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11844145 20160811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1777 CDK6 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9102208 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 is_implicated_in DOID:0112262 leucine-sensitive hypoglycemia of infancy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2545 CTSS is_implicated_in DOID:870 neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21228734 20120131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080676 Stickler syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12204008 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080676 Stickler syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9800905 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080676 Stickler syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23592912 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080676 Stickler syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080676 Stickler syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1677770 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080676 Stickler syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18276201 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080676 Stickler syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20179744 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080676 Stickler syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8737653 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080676 Stickler syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7487609 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080676 Stickler syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12511349 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 is_not_implicated_in DOID:3146 lipid metabolism disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7923858 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_implicated_in DOID:13636 Fanconi anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12827451 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_implicated_in DOID:13636 Fanconi anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15523645 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_implicated_in DOID:13636 Fanconi anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11110674 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2529 CTSD is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11304834 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20458436 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM is_implicated_in DOID:0070280 primary autosomal recessive microcephaly 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1929 CHGA is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18235090 20121019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20637 DPYSL5 is_implicated_in DOID:0060565 Ritscher-Schinzel syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210728 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:457 AMD1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30650190 20190218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28163 CCDC28B is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16327777 20141216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_not_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19032828 20140506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16565926 20150813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17245 CPA6 is_implicated_in DOID:0111308 familial febrile seizures 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3488 ETS1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1686010 20091026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3488 ETS1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1982251 20091026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:552 pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15928955 20110211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15478 ADAM33 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20003279 20101101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15478 ADAM33 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19284602 20101101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20590444 20220610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:897 AVPR2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17941907 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:897 AVPR2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18489790 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:897 AVPR2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19816050 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:897 AVPR2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17020465 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:897 AVPR2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17371330 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:897 AVPR2 is_implicated_in DOID:12387 nephrogenic diabetes insipidus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17550212 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2097 CMA1 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8759823 20110309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:800 ATP1A2 is_implicated_in DOID:10024 migraine with aura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12953268 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29357 ASXL3 is_implicated_in DOID:0080893 Bainbridge-Ropers syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_implicated_in DOID:2211 factor XIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21512576 20160330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_implicated_in DOID:2211 factor XIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19937244 20160330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_implicated_in DOID:2211 factor XIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23508224 20160330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_implicated_in DOID:2211 factor XIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20179087 20160330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_implicated_in DOID:2211 factor XIII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19438481 20160330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18771417 20171106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23227324 20171106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19012 CORIN is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16216958 20070802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19012 CORIN is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17485366 20070802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11393 AURKA is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10873097 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:670 amphetamine abuse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17187009 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:670 amphetamine abuse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15274053 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1323 C4A is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21943165 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29993116 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20587604 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33419953 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29193083 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21448929 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17672867 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15962231 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20628649 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34906413 20231116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19747 EVC2 is_implicated_in DOID:0111571 Weyers acrofacial dysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16739866 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17334527 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21312059 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1394429 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17161775 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:9477 pulmonary embolism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14996674 20110228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2336 CR2 is_implicated_in DOID:0081150 common variable immunodeficiency 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25189 ALKBH8 is_implicated_in DOID:0081232 autosomal recessive intellectual developmental disorder 71 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15672 ALG9 is_implicated_in DOID:0080564 congenital disorder of glycosylation Il ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:403 ALDH3A2 is_implicated_in DOID:14501 Sjogren-Larsson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13164 CNBP is_implicated_in DOID:0050759 myotonic dystrophy type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:2152 ovary epithelial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19786980 20120302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2698 DBT is_implicated_in DOID:9269 maple syrup urine disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21050 CDKAL1 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19741467 20091102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_implicated_in DOID:0050598 extrapulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24874302 20201016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 is_implicated_in DOID:0110998 Joubert syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15322546 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 is_implicated_in DOID:0110998 Joubert syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15467982 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 is_implicated_in DOID:0110998 Joubert syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16155189 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 is_implicated_in DOID:0110998 Joubert syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 is_implicated_in DOID:0110998 Joubert syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26541515 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 is_implicated_in DOID:0110998 Joubert syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18268248 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 is_implicated_in DOID:0110998 Joubert syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16453322 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 is_implicated_in DOID:0110998 Joubert syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18054307 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_not_implicated_in DOID:1580 diffuse scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22402147 20190726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29284 DIP2B is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2187 COL11A2 is_implicated_in DOID:0080673 fibrochondrogenesis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_implicated_in DOID:0080679 neuronal intestinal dysplasia type A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_implicated_in DOID:3328 temporal lobe epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19864112 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9251 CTSA is_implicated_in DOID:0080540 galactosialidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:0080409 familial adenomatous polyposis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20 AARS1 is_implicated_in DOID:0080451 developmental and epileptic encephalopathy 29 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19593802 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21983886 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22930568 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29993116 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22441734 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29416783 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19491260 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23023782 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23056235 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 is_implicated_in DOID:1168 familial hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1782747 20070118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1961 CHRNB1 is_implicated_in DOID:0110681 congenital myasthenic syndrome 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180314 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20634952 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20190274 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_implicated_in DOID:12554 hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14615110 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_implicated_in DOID:12554 hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16189652 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_implicated_in DOID:12554 hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14566051 20160829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25867436 20170725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19843100 20100830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8535440 20100830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1381442 20100830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16678503 20100830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7521937 20100830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19952026 20100830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7539891 20100830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16600946 20101220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23065222 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11106834 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17035401 20201028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3260 EIF2B4 is_implicated_in DOID:0070371 leukoencephalopathy with vanishing white matter 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3036 DSC2 is_implicated_in DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18758 BBS7 is_implicated_in DOID:0110129 Bardet-Biedl syndrome 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2202 COL4A1 is_implicated_in DOID:13223 uterine fibroid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1477 CAPN10 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16721485 20130730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1477 CAPN10 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18554168 20130730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1477 CAPN10 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20406624 20130730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10590188 20161116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23635803 20240112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:3500 gallbladder adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20438364 20100525 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22037783 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17221209 20070406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1633 CD19 is_implicated_in DOID:0081146 common variable immunodeficiency 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190710 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15126915 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20717043 20160301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE is_implicated_in DOID:5339 cyclic hematopoiesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE is_implicated_in DOID:5339 cyclic hematopoiesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21425445 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28957 EMC1 is_implicated_in DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:282 ADRA2B is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17039423 20090930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:282 ADRA2B is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17277585 20090930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11996959 20090612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2933 DMPK is_implicated_in DOID:11722 myotonic dystrophy type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8595416 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2933 DMPK is_implicated_in DOID:11722 myotonic dystrophy type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2592 CYP11B2 is_implicated_in DOID:446 primary hyperaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1731223 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28287 ALG14 is_implicated_in DOID:0110658 congenital myasthenic syndrome 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2972 DNM1 is_implicated_in DOID:0070376 developmental and epileptic encephalopathy 31B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230531 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27050379 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16710702 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3218 EFEMP1 is_implicated_in DOID:0060745 Doyne honeycomb retinal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3218 EFEMP1 is_implicated_in DOID:0060745 Doyne honeycomb retinal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10369267 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:61 ABCD1 is_implicated_in DOID:10588 adrenoleukodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8048932 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:61 ABCD1 is_implicated_in DOID:10588 adrenoleukodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18672 CDK5RAP2 is_implicated_in DOID:0070286 primary autosomal recessive microcephaly 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17764569 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18672 CDK5RAP2 is_implicated_in DOID:0070286 primary autosomal recessive microcephaly 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23587236 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18672 CDK5RAP2 is_implicated_in DOID:0070286 primary autosomal recessive microcephaly 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:188 ADAM10 is_implicated_in DOID:0060258 reticulate acropigmentation of Kitamura ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23137636 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16530497 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17896124 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17953702 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20116372 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26799 C2orf69 is_implicated_in DOID:0070426 combined oxidative phosphorylation deficiency 53 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210721 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2343 CRB1 is_implicated_in DOID:14791 Leber congenital amaurosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20956273 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2343 CRB1 is_implicated_in DOID:14791 Leber congenital amaurosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24715753 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 is_implicated_in DOID:11650 bronchopulmonary dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17196572 20161005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14739420 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29932 COASY is_implicated_in DOID:0110740 neurodegeneration with brain iron accumulation 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:815 ATP2B2 is_implicated_in DOID:0050564 autosomal dominant nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:2215 factor VII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26083983 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:2215 factor VII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1634227 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:2215 factor VII deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17098 DICER1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30833603 20210716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18141 DCDC2 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27501527 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22612324 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2265 COX4I1 is_implicated_in DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3334 EMP2 is_implicated_in DOID:0080386 nephrotic syndrome type 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5959 ELP1 is_implicated_in DOID:0050902 medulloblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211020 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18296645 20100409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2020 CLCN2 is_implicated_in DOID:0111312 idiopathic generalized epilepsy 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22173705 20200911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29621876 20200911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20554942 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23314339 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19577767 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19223495 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2652 CYP7B1 is_implicated_in DOID:0110810 hereditary spastic paraplegia 5A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2398 CRYBB2 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9158139 20070403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2398 CRYBB2 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11424921 20070403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26067842 20201002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14412 AGXT2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33879046 20230725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1512 CASQ1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17681849 20091102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:890 AUH is_implicated_in DOID:447 renal tubular transport disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12434311 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:13482 Proteus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:13482 Proteus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21793738 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3255 EIF2AK3 is_implicated_in DOID:0090060 Wolcott-Rallison syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3255 EIF2AK3 is_implicated_in DOID:0090060 Wolcott-Rallison syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10932183 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:11394 adult respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22897124 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:60 ABCC9 is_implicated_in DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15894829 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16445777 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2357 CRHR1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19210659 20110805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11849215 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2666 DAG1 is_implicated_in DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30213 ATP13A2 is_implicated_in DOID:0060556 Kufor-Rakeb syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 is_implicated_in DOID:1388 Tangier disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 is_implicated_in DOID:1388 Tangier disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10431236 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 is_implicated_in DOID:1388 Tangier disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11086027 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32747830 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_not_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16426246 20110930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29162 FAM149B1 is_implicated_in DOID:0050777 Joubert syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2037 CLDN16 is_implicated_in DOID:447 renal tubular transport disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10390358 20070208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2911 DLST is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10227647 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10435629 20210907 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19101982 20210907 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28328801 20210907 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27276713 20210907 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210907 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26968103 20210907 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17328 DTNBP1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15345706 20160621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17328 DTNBP1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12474144 20160621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21050 CDKAL1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19401414 20091102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21050 CDKAL1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18991055 20091102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21050 CDKAL1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18633108 20091102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_implicated_in DOID:5603 T-cell acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23341344 20160322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_implicated_in DOID:5603 T-cell acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26072070 20160322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10981554 20090911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23488625 20190826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24175826 20190826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9272683 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16013913 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:924 B4GALT1 is_implicated_in DOID:0070256 congenital disorder of glycosylation type IId ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2895 EDAR is_implicated_in DOID:0111663 ectodermal dysplasia 10A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10431241 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2895 EDAR is_implicated_in DOID:0111663 ectodermal dysplasia 10A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24187 CABIN1 is_implicated_in DOID:4001 ovarian carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18757082 20150805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17146 ARL2BP is_implicated_in DOID:0110419 retinitis pigmentosa with or without situs inversus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:10646 schizotypal personality disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22146151 20120710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24655058 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2400 CRYBB3 is_implicated_in DOID:0110268 cataract 22 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2169 CNTF is_implicated_in DOID:150 disease of mental health ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8834105 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:758 ASS1 is_implicated_in DOID:0070340 classic citrullinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200228 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18984 BMAL2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17728404 20091112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:485 ANGPT2 is_implicated_in DOID:0050580 hereditary lymphedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210616 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18381943 20100331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16520463 20100331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19147782 20100331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18443194 20081113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16671945 20081113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8817351 20081113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9259273 20081113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2715 DDAH1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30284143 20230721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2343 CRB1 is_implicated_in DOID:0110358 retinitis pigmentosa 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:1712 aortic valve stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11175284 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20 AARS1 is_implicated_in DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2889 DISC2 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:130 ACTA2 is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19639654 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:130 ACTA2 is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21212136 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:130 ACTA2 is_implicated_in DOID:14004 thoracic aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19320640 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19636371 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15604249 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17553133 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2736 DDX11 is_implicated_in DOID:0060535 Warsaw breakage syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE is_implicated_in DOID:0080625 severe congenital neutropenia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_not_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20684753 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_not_implicated_in DOID:1614 male breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17661168 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:376 AKAP6 is_implicated_in DOID:2152 ovary epithelial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29979793 20190201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2709 DCT is_implicated_in DOID:0050632 oculocutaneous albinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210203 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28416 CCDC26 is_implicated_in DOID:1319 brain cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26014354 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2590 CYP11A1 is_implicated_in DOID:0050811 congenital adrenal hyperplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12161514 20070212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:90 ACADS is_implicated_in DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9456365 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:13375 temporal arteritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15742444 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29096 ARHGAP44 is_implicated_in DOID:635 acquired immunodeficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21107268 20231208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29096 ARHGAP44 is_implicated_in DOID:635 acquired immunodeficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28069446 20231208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1328 C4BPB is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32747830 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19101034 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL is_implicated_in DOID:0070004 myeloid neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22315494 20160226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL is_implicated_in DOID:0070004 myeloid neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19387008 20160226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:0111862 congenital bilateral absence of vas deferens ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11119745 20161130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:0111862 congenital bilateral absence of vas deferens ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10653141 20161130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:318 AGA is_implicated_in DOID:0050461 aspartylglucosaminuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17366 AASS is_implicated_in DOID:9274 hyperlysinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19987 EPHA10 is_implicated_in DOID:0050564 autosomal dominant nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15077201 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26968103 20211209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10700176 20211209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:32700 CCDC103 is_implicated_in DOID:0110621 primary ciliary dyskinesia 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15591268 20100420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17941906 20140711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17903303 20110218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25311495 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24955348 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22019782 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16379025 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21909106 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23362846 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17456821 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17517971 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16877387 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23534868 20131016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3052 DSP is_implicated_in DOID:0090128 Carvajal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2185 COL10A1 is_implicated_in DOID:0080021 Schmid metaphyseal chondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2527 CTSB is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18706099 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2766 DEFB1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11829455 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2766 DEFB1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15569478 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0110291 Leber congenital amaurosis 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16909394 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0110291 Leber congenital amaurosis 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0110291 Leber congenital amaurosis 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17345604 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0110291 Leber congenital amaurosis 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18079693 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:0090130 cortical dysplasia-focal epilepsy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11021356 20210317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1500 CASP10 is_implicated_in DOID:0110115 autoimmune lymphoproliferative syndrome type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:0110429 dilated cardiomyopathy 1H ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20123316 20111215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230906 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19412632 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19252927 20100115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0111000 Joubert syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17564967 20230630 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0111000 Joubert syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17617513 20230630 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0111000 Joubert syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230630 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0111000 Joubert syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27434533 20230630 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0111000 Joubert syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17409309 20230630 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15879 CTNNBL1 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220518 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:195 ADAM17 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29988083 20180822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:1474 aggressive periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21264360 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10599336 20130904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14611903 20130904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19561157 20130904 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23287 ETHE1 is_implicated_in DOID:0060640 ethylmalonic encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2169 CNTF is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11890844 20070712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25329654 20211202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10451700 20080623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1052 BIN1 is_implicated_in DOID:3459 breast carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10652430 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22197 AP5Z1 is_implicated_in DOID:2476 hereditary spastic paraplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20613862 20141210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:924 B4GALT1 is_implicated_in DOID:5212 congenital disorder of glycosylation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11901181 20070202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10642 CXCL5 is_implicated_in DOID:0050156 idiopathic pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20137269 20110714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1940 CHM is_implicated_in DOID:9821 choroideremia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:0050902 medulloblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17238184 20120621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_not_implicated_in DOID:289 endometriosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15120698 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:225 ADAR is_implicated_in DOID:0050629 Aicardi-Goutieres syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:225 ADAR is_implicated_in DOID:0050629 Aicardi-Goutieres syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23001123 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3049 DSG2 is_implicated_in DOID:0110458 dilated cardiomyopathy 1BB ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13523 CLEC4M is_not_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17534355 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13523 CLEC4M is_not_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17534354 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29726119 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23435876 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27669215 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25544771 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:4186 articulation disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25895914 20171109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:746 ASL is_implicated_in DOID:14755 argininosuccinic aciduria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12408190 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:746 ASL is_implicated_in DOID:14755 argininosuccinic aciduria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:166 ACTN4 is_implicated_in DOID:0111128 focal segmental glomerulosclerosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180221 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2389 CRYAB is_implicated_in DOID:0080309 fatal infantile hypertonic myofibrillar myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180620 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14872 ASPN is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3007 DPM3 is_implicated_in DOID:0050570 congenital disorder of glycosylation type I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2348 CREBBP is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12461753 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19293197 20101025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_not_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23773920 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5951 CADM1 is_implicated_in DOID:3459 breast carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17260099 20080121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3153 ECM1 is_implicated_in DOID:14498 lipoid proteinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3153 ECM1 is_implicated_in DOID:14498 lipoid proteinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11929856 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:13544 low tension glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16778644 20131213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26193 CSPP1 is_implicated_in DOID:0110990 Joubert syndrome 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30237 CC2D1A is_implicated_in DOID:0081179 autosomal recessive intellectual developmental disorder 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25144241 20211124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16385653 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20149750 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16893393 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:225 ADAR is_implicated_in DOID:0060257 dyschromatosis symmetrica hereditaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12916015 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:225 ADAR is_implicated_in DOID:0060257 dyschromatosis symmetrica hereditaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:225 ADAR is_implicated_in DOID:0060257 dyschromatosis symmetrica hereditaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15955093 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1919 CHD4 is_implicated_in DOID:0060058 lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25407497 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1324 C4B is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22076784 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18603 COL25A1 is_implicated_in DOID:0081020 congenital fibrosis of the extraocular muscles 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25069034 20170801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28857155 20210603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2876 DIAPH1 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9360932 20070404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:989 BCL10 is_implicated_in DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180523 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3006 DPM2 is_implicated_in DOID:0080571 congenital disorder of glycosylation Iu ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20220260 20110207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1713 CDAN1 is_implicated_in DOID:0111398 congenital dyserythropoietic anemia type Ia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1713 CDAN1 is_implicated_in DOID:0111398 congenital dyserythropoietic anemia type Ia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15543010 20210111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1713 CDAN1 is_implicated_in DOID:0111398 congenital dyserythropoietic anemia type Ia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16754775 20210111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1713 CDAN1 is_implicated_in DOID:0111398 congenital dyserythropoietic anemia type Ia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12434312 20210111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1713 CDAN1 is_implicated_in DOID:0111398 congenital dyserythropoietic anemia type Ia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29031773 20210111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2188 COL12A1 is_implicated_in DOID:0050663 Bethlem myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:27337 ANO5 is_implicated_in DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20096397 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27337 ANO5 is_implicated_in DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23606453 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27337 ANO5 is_implicated_in DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27337 ANO5 is_implicated_in DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22742934 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2665 CD55 is_implicated_in DOID:10611 protein-losing enteropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16713443 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16514903 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22106858 20180718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17473192 20180718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11314047 20140417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3178 EDN3 is_implicated_in DOID:0110954 Waardenburg syndrome type 4B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1148 BUB1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9521327 20200226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1148 BUB1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14353 DNALI1 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26648 BBS12 is_implicated_in DOID:0110134 Bardet-Biedl syndrome 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24797 FAM83H is_implicated_in DOID:0110055 amelogenesis imperfecta type 3A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25966 ESRP1 is_implicated_in DOID:0111639 autosomal recessive nonsyndromic deafness 109 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20514076 20231211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3439 ERCC8 is_implicated_in DOID:0060240 UV-sensitive syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15140544 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28924235 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 is_implicated_in DOID:3627 aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22440127 20210302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22876122 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1513 CASQ2 is_implicated_in DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4888 CFHR1 is_implicated_in DOID:0110014 age related macular degeneration 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1938 CHKB is_implicated_in DOID:0110632 megaconial type congenital muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:9828 neonatal abstinence syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27983768 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10223461 20230524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:10941 intracranial aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19299629 20230524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26047 CT55 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:219 ADAMTS3 is_implicated_in DOID:0060366 Hennekam syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_not_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15112973 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1040 BFSP1 is_implicated_in DOID:0110264 cataract 33 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3528 F10 is_implicated_in DOID:2222 factor X deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3528 F10 is_implicated_in DOID:2222 factor X deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2790181 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3528 F10 is_implicated_in DOID:2222 factor X deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22008904 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2770 DES is_implicated_in DOID:0110431 dilated cardiomyopathy 1I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:370 AKAP12 is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19724895 20190206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2227 COMP is_implicated_in DOID:0070467 carpal tunnel syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210203 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:800 ATP1A2 is_implicated_in DOID:0111182 familial hemiplegic migraine 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:801 ATP1A3 is_implicated_in DOID:0070385 developmental and epileptic encephalopathy 99 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:0080776 partial androgen insensitivity syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17288 APOA5 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17087641 20090917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 is_implicated_in DOID:12347 osteogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21341209 20170113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 is_implicated_in DOID:12347 osteogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2567784 20170113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 is_implicated_in DOID:12347 osteogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16705691 20170113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:0060918 facioscapulohumeral muscular dystrophy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210825 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27393733 20210318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230927 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18395980 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16912 EMG1 is_implicated_in DOID:0050684 Bowen-Conradi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17097 EXOSC2 is_implicated_in DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A is_implicated_in DOID:0050956 spinocerebellar ataxia type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17918154 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14857 COG5 is_implicated_in DOID:0070261 congenital disorder of glycosylation type IIi ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1542 CBLB is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15629882 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1542 CBLB is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18201552 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:0080188 chronic myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21339759 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:801 ATP1A3 is_implicated_in DOID:0090056 dystonia 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:801 ATP1A3 is_implicated_in DOID:0090056 dystonia 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25359261 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17433 CHP1 is_implicated_in DOID:0050952 spastic ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190626 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8852658 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8001158 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18318 ASXL1 is_implicated_in DOID:0080188 chronic myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20880116 20160224 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11882399 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_implicated_in DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21465313 20220810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 is_implicated_in DOID:13271 cutaneous porphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21653323 20160212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1339 C6 is_implicated_in DOID:0060299 complement component 6 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11283205 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21926398 20210413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1951 CHRM2 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20351719 20111028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 is_implicated_in DOID:0080957 primary hypoalphalipoproteinemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10431236 20180802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 is_implicated_in DOID:0080957 primary hypoalphalipoproteinemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180802 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8514 CLDN11 is_implicated_in DOID:0070402 hypomyelinating leukodystrophy 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210526 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2674 DAPK1 is_implicated_in DOID:13223 uterine fibroid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:4905 pancreatic carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10922411 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:745 ASIP is_implicated_in DOID:10123 pigmentation disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12703 BEST1 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9662395 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:9563 bronchiectasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7543317 20100830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:9563 bronchiectasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12123489 20100830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1966 CHRNE is_implicated_in DOID:3635 congenital myasthenic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20157618 20180828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18325906 20180828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19191 DOCK8 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22476911 20210107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:947 BAIAP2 is_implicated_in DOID:11119 Gilles de la Tourette syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15303240 20170106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21191 DAOA is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14966479 20200803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28167353 20231218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9585673 20231218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:967 BBS2 is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11285252 20150129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:361 AK1 is_implicated_in DOID:2861 congenital nonspherocytic hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17662886 20160614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15944936 20140909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15208270 20140909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22816662 20140909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:13406 pulmonary sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19679608 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:321 AGL is_implicated_in DOID:2748 glycogen storage disease III ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:321 AGL is_implicated_in DOID:2748 glycogen storage disease III ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16705713 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19986 CYCS is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24326104 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19986 CYCS is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18345000 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19986 CYCS is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32791957 20210505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20484896 20121126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16685203 20121126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16041242 20121126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20739939 20121126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15207712 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18712274 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14341 EDARADD is_implicated_in DOID:0111653 ectodermal dysplasia 11A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:3192 neurilemmoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10595918 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17440948 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A is_implicated_in DOID:1838 Menkes disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20497190 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A is_implicated_in DOID:1838 Menkes disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7842019 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A is_implicated_in DOID:1838 Menkes disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10739752 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A is_implicated_in DOID:1838 Menkes disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A is_implicated_in DOID:1838 Menkes disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21208200 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A is_implicated_in DOID:1838 Menkes disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22074552 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12359139 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9857918 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26953 BLTP1 is_implicated_in DOID:0111555 Alkuraya-Kucinskas syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25266802 20210520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2383 CRX is_implicated_in DOID:0110333 Leber congenital amaurosis 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2383 CRX is_implicated_in DOID:0110333 Leber congenital amaurosis 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9537410 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30192652 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34906413 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28760944 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24974252 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25678 CLXN is_implicated_in DOID:9562 primary ciliary dyskinesia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:5381 bile duct adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25704541 20200117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18497059 20080923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2210 COL5A2 is_implicated_in DOID:0080726 Ehlers-Danlos syndrome classic type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5394 CFI is_implicated_in DOID:0050419 complement factor I deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24704376 20231214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10559562 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:13399 color blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21640793 20140521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17661914 20110930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30528 DNAJC19 is_implicated_in DOID:0110000 3-methylglutaconic aciduria type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18622 COG7 is_implicated_in DOID:630 genetic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15107842 20070329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25707398 20200519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25920557 20200519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1076 BMPR1A is_implicated_in DOID:0111686 hereditary mixed polyposis syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19723917 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2187 COL11A2 is_implicated_in DOID:0110509 autosomal recessive nonsyndromic deafness 53 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:0110893 inflammatory bowel disease 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12132 granulomatosis with polyangiitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12022356 20121231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19367 FAM13A is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25928290 20161012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19884274 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20417295 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24997152 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25860380 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29804528 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:0110019 age related macular degeneration 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19899988 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1442 CALM1 is_implicated_in DOID:0110655 long QT syndrome 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25050486 20140909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22816662 20140909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:11257 social phobia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21193173 20171108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17845580 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26690 CEP120 is_implicated_in DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28434 CCNQ is_implicated_in DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21732 ANTXR2 is_implicated_in DOID:0111669 hyaline fibromatosis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2343 CRB1 is_implicated_in DOID:0110079 Leber congenital amaurosis 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22131879 20160225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:4154 dentinogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11286811 20161221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15613777 20070801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11803524 20070801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23537 DHTKD1 is_implicated_in DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19770472 20171103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18452193 20171103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12532157 20090505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18805913 20090505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22065928 20140922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28811712 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19706847 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31740231 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1964 CHRNB4 is_implicated_in DOID:809 cocaine abuse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32841724 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23170137 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19648063 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_not_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19456854 20160210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP is_implicated_in DOID:0050711 aceruloplasminemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15328426 20131212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30489355 20190826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25367 CCDC8 is_implicated_in DOID:0060241 3-M syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22954124 20190822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21067572 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:118 ACO2 is_implicated_in DOID:0050883 infantile cerebellar-retinal degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3519 EYA1 is_implicated_in DOID:0111423 branchiootorenal syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191106 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2209 COL5A1 is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10777716 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2209 COL5A1 is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8752669 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2209 COL5A1 is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12145749 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2209 COL5A1 is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11278977 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:349 AHSG is_implicated_in DOID:0080628 alopecia-mental retardation syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13210 ARL6 is_implicated_in DOID:0110125 Bardet-Biedl syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 is_implicated_in DOID:0050848 obstructive sleep apnea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20948559 20101025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22705826 20140529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3522 EYA4 is_implicated_in DOID:0110542 autosomal dominant nonsyndromic deafness 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19903800 20110817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33188 AMTN is_implicated_in DOID:0080243 amelogenesis imperfecta type 3B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2946 DNAH17 is_implicated_in DOID:0111926 spermatogenic failure 39 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD is_implicated_in DOID:0110461 X-linked dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18141 DCDC2 is_implicated_in DOID:0111126 nephronophthisis 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_not_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23397959 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17272 CENPJ is_implicated_in DOID:0070010 Seckel syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17272 CENPJ is_implicated_in DOID:0070010 Seckel syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20522431 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_implicated_in DOID:13133 HELLP syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30066360 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30664 CLPB is_implicated_in DOID:0050590 severe congenital neutropenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14214 CIC is_implicated_in DOID:0080236 autosomal dominant intellectual developmental disorder 45 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2941 DNAH10 is_implicated_in DOID:0112336 spermatogenic failure 56 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210908 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16777502 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16530497 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22948905 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:281 ADRA2A is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19965390 20120326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29170 FAN1 is_implicated_in DOID:0060911 karyomegalic interstitial nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:4079 heart valve disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12578328 20201102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31264381 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:2569 retinal drusen ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18936151 20131015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:2569 retinal drusen ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22491393 20131015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21297 EPS8L3 is_implicated_in DOID:0110702 hypotrichosis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200408 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23137636 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19143970 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1733 CDK13 is_implicated_in DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1733 CDK13 is_implicated_in DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28807008 20221103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1733 CDK13 is_implicated_in DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29021403 20221103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1733 CDK13 is_implicated_in DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27479907 20221103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1733 CDK13 is_implicated_in DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29393965 20221103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29849 CADM2 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21864505 20200103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:987 BCKDHB is_implicated_in DOID:9269 maple syrup urine disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:987 BCKDHB is_implicated_in DOID:9269 maple syrup urine disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2022752 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:468 AMPD1 is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10086964 20230517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:468 AMPD1 is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15135700 20230517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:4674 androgen insensitivity syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1487249 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:4674 androgen insensitivity syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20888558 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:4674 androgen insensitivity syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8325950 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:4674 androgen insensitivity syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1424203 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:4674 androgen insensitivity syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:4674 androgen insensitivity syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7970939 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:4674 androgen insensitivity syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3186717 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3092 DYRK1B is_implicated_in DOID:0060612 abdominal obesity-metabolic syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15939106 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17108814 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1836 CEBPE is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220921 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_implicated_in DOID:0070193 autosomal recessive chronic granulomatous disease 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_implicated_in DOID:0090050 dystonia 27 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12098516 20170512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:10892 hypospadias ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15579657 20170106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3437 ERCC5 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27340861 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29561 ARV1 is_implicated_in DOID:0080417 developmental and epileptic encephalopathy 38 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10522 ACSM3 is_not_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11592044 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28762 AFG2B is_implicated_in DOID:0050565 autosomal recessive nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211208 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17642 DCLRE1C is_implicated_in DOID:0060010 Omenn syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10610 CCL11 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13557 ACE2 is_implicated_in DOID:14069 cerebral malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20117248 20201120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10720475 20120229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33779075 20221026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:2962 Cockayne syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18446857 20161202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:2962 Cockayne syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23599700 20161202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:2962 Cockayne syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25463447 20161202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3012 DPYD is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26846104 20160621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9126344 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9892244 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23454776 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17298432 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1962 CHRNB2 is_implicated_in DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21569632 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18317464 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:896 AVPR1B is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27920663 20190808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10647011 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30578 EXPH5 is_implicated_in DOID:4644 epidermolysis bullosa simplex ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:4852 pleomorphic xanthoastrocytoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25346165 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:473 AMT is_implicated_in DOID:9268 glycine encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9621520 20230614 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:473 AMT is_implicated_in DOID:9268 glycine encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230614 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:473 AMT is_implicated_in DOID:9268 glycine encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9600239 20230614 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:473 AMT is_implicated_in DOID:9268 glycine encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8005589 20230614 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20609 AIMP2 is_implicated_in DOID:0070404 hypomyelinating leukodystrophy 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2883 DIO1 is_implicated_in DOID:50 thyroid gland disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:2679 dysembryoplastic neuroepithelial tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25346165 20161202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2357 CRHR1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16113459 20110808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2357 CRHR1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19663668 20110808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2570 CYB5A is_implicated_in DOID:10783 methemoglobinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2107882 20070209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11391 AURKC is_implicated_in DOID:0070183 spermatogenic failure 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10189842 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19020530 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20080081 20101116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19567155 20101116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28642860 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:0070130 autosomal dominant cutis laxa 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180418 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2151 CNGB1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11379879 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2384 CRY1 is_implicated_in DOID:0111141 delayed sleep phase syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220824 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:469 AMPD2 is_implicated_in DOID:0060278 pontocerebellar hypoplasia type 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18312481 20101015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19096003 20101015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15940135 20101015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16387800 20101015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1078 BMPR2 is_implicated_in DOID:1681 heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21070126 20110330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26255 C3orf52 is_implicated_in DOID:4535 hypotrichosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230104 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_implicated_in DOID:4001 ovarian carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16721043 20100105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16148 CRLS1 is_implicated_in DOID:0070430 combined oxidative phosphorylation deficiency 57 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:428 ALMS1 is_implicated_in DOID:0050473 Alstrom syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16720663 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:428 ALMS1 is_implicated_in DOID:0050473 Alstrom syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11941369 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:428 ALMS1 is_implicated_in DOID:0050473 Alstrom syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:428 ALMS1 is_implicated_in DOID:0050473 Alstrom syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22876109 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11030411 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17259403 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18664331 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18599530 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15579791 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18346985 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19557432 20140819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1247 C1S is_implicated_in DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15784866 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2279 COX6A2 is_implicated_in DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:0080868 primary ovarian insufficiency 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16902 BCKDK is_implicated_in DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14412 AGXT2 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26984639 20230721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2294 COX8A is_implicated_in DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1057 BLK is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19180478 20100128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1074 BMP7 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17656261 20080116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17208 BICD2 is_implicated_in DOID:0070350 spinal muscular atrophy with lower extremity predominant 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200325 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:894 AVP is_implicated_in DOID:12388 neurohypophyseal diabetes insipidus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:894 AVP is_implicated_in DOID:12388 neurohypophyseal diabetes insipidus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18494865 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6027 CXCR2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19252927 20130829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17579607 20231211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB is_implicated_in DOID:9258 Waardenburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8634719 20070403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23828384 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16823505 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16969646 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11375354 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22116960 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19542745 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25568 FANCI is_implicated_in DOID:0050671 female breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30303537 20220609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19319135 20180706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18985 DCXR is_implicated_in DOID:0111258 pentosuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23296223 20131015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA is_not_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21195698 20111213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11301010 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17033622 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23357080 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18483852 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19536649 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12966032 20150701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14675603 20150701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9697696 20150701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12133586 20150701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13211 ATP2C1 is_implicated_in DOID:0050429 Hailey-Hailey disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22190368 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_implicated_in DOID:3602 toxic encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17938643 20160526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3551 F9 is_implicated_in DOID:0111899 X-linked thrombophilia due to factor IX defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26499900 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27340861 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_implicated_in DOID:2044 drug-induced hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17502832 20190820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22174912 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3495 ETV6 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12203785 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3495 ETV6 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18476590 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3495 ETV6 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9171997 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23505 BMS1 is_implicated_in DOID:0080661 nonsyndromic aplasia cutis congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200422 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:2871 endometrial carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19900189 20180425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL is_implicated_in DOID:0050458 juvenile myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19571318 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL is_implicated_in DOID:0050458 juvenile myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:61 mitral valve disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14765837 20201103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9251 CTSA is_implicated_in DOID:3211 lysosomal storage disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8514852 20070118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2079 CLN8 is_implicated_in DOID:0110723 neuronal ceroid lipofuscinosis 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10609 CCL1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16864713 20110112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:986 alopecia areata ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23567921 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25815 CEP63 is_implicated_in DOID:0070006 Seckel syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29043 DSTYK is_implicated_in DOID:0080206 CAKUT1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:8886 chorioretinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18523590 20140605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:493 ANK2 is_implicated_in DOID:13884 sick sinus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15178757 20070117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3529 F11 is_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19583818 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3529 F11 is_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22633531 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20188 DNAAF2 is_implicated_in DOID:0110612 primary ciliary dyskinesia 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1775 CDK5R1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19154537 20180907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1848 CEL is_implicated_in DOID:3153 lipomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17259390 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2472 CSRP3 is_implicated_in DOID:0110318 hypertrophic cardiomyopathy 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24537 CHMP2B is_not_implicated_in DOID:9255 frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16979267 20120302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3057 DTNA is_implicated_in DOID:0060480 left ventricular noncompaction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180425 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10527888 20110805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18547289 20110805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20067482 20110805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_not_implicated_in DOID:8029 sporadic breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17904846 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_not_implicated_in DOID:11612 polycystic ovary syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15950642 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17035 EXOSC8 is_implicated_in DOID:0112334 pontocerebellar hypoplasia type 1C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14604 AMN is_implicated_in DOID:13382 megaloblastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12590260 20070116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2884 DIO2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17224473 20070807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2623 CYP2C9 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16985032 20121008 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2151 CNGB1 is_implicated_in DOID:0110402 retinitis pigmentosa 45 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3436 ERCC4 is_implicated_in DOID:0050427 xeroderma pigmentosum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8797827 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23296223 20131015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23864767 20131015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1362221 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21794098 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15649153 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19129082 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24179546 20210413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13681 DCHS1 is_implicated_in DOID:0080585 Van Maldergem syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:325 AGPAT2 is_implicated_in DOID:811 lipodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11967537 20061219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29096 ARHGAP44 is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28510328 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25540 ARHGEF10L is_implicated_in DOID:0050933 ovarian serous carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29979793 20190201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14637 ABCA12 is_implicated_in DOID:0060656 autosomal recessive congenital ichthyosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12915478 20061203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231004 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12533788 20231004 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17085682 20231004 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21317 DYM is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12491225 20061219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11484167 20110817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11793160 20110817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:0050848 obstructive sleep apnea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19482546 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:0050848 obstructive sleep apnea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20182789 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3573 FADD is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16892 CD96 is_implicated_in DOID:0111581 C syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2303 CPE is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9662053 20070720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:4948 gallbladder carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7795450 20100407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 is_implicated_in DOID:0050952 spastic ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22022284 20160902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1391 CACNA1D is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23229155 20180207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20653773 20140417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10338331 20140417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:9540 vascular skin disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11457670 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1733 CDK13 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29021403 20221101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1733 CDK13 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29222009 20221101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17582598 20210901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:443 ALS2 is_implicated_in DOID:0060194 amyotrophic lateral sclerosis type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_implicated_in DOID:0080137 multiple endocrine neoplasia type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:42 ABCB11 is_implicated_in DOID:1852 intrahepatic cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9806540 20061206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15762 CRNKL1 is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23774526 20150401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:105 CNNM4 is_implicated_in DOID:0111404 Jalili syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200228 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20141546 20200922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1542 CBLB is_not_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17209142 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1542 CBLB is_not_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14961073 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21445332 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19126442 20201026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24874302 20201026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28009432 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:34 ABCA4 is_implicated_in DOID:8501 fundus dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16546111 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19626461 20141106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 is_implicated_in DOID:10609 rickets ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9486994 20070329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:567 AP3B2 is_implicated_in DOID:0080448 developmental and epileptic encephalopathy 48 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24268 ASCC1 is_implicated_in DOID:9206 Barrett's esophagus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9603795 20190513 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3627182 20190513 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190513 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1675 CD3G is_implicated_in DOID:0111973 immunodeficiency 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:557 kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29146704 20230622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B is_implicated_in DOID:1925 Coffin-Siris syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24674232 20171012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9722 ALDH18A1 is_implicated_in DOID:2476 hereditary spastic paraplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26026163 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:93 ACAT1 is_implicated_in DOID:14723 beta-ketothiolase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19012 CORIN is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28494 ACTL9 is_implicated_in DOID:0112279 spermatogenic failure 53 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210421 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20414371 20160811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:282 ADRA2B is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12535806 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS is_implicated_in DOID:9263 homocystinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS is_implicated_in DOID:9263 homocystinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7506602 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_not_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18431743 20140820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1848 CEL is_implicated_in DOID:0111105 maturity-onset diabetes of the young type 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2973 DNM1L is_implicated_in DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2891 DKK1 is_implicated_in DOID:13714 anodontia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22984994 20170131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8872868 20110817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:10892 hypospadias ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:10892 hypospadias ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15472213 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20214684 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17288 APOA5 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15177130 20090917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12353035 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25657 BCORL1 is_implicated_in DOID:0111841 Shukla-Vernon syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190821 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:823 ATP5F1A is_implicated_in DOID:0111498 combined oxidative phosphorylation deficiency 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:103 CNNM2 is_implicated_in DOID:0060884 renal hypomagnesemia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2397 CRYBB1 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12360425 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2206 COL4A4 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19357112 20130322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15643125 20070628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1713 CDAN1 is_implicated_in DOID:1338 congenital dyserythropoietic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16098079 20160526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14198 ELAC2 is_implicated_in DOID:0111496 combined oxidative phosphorylation deficiency 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:33 ABCA3 is_implicated_in DOID:12120 pulmonary alveolar proteinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2330 CPT2 is_implicated_in DOID:0080000 muscular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10873395 20070326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE is_implicated_in DOID:824 periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21796505 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23 ABAT is_implicated_in DOID:0060174 GABA aminotransferase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15219649 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:12716 newborn respiratory distress syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22574884 20140822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1919 CHD4 is_implicated_in DOID:1993 rectum cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25407497 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1093 BPGM is_implicated_in DOID:0111630 familial erythrocytosis 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1093 BPGM is_implicated_in DOID:0111630 familial erythrocytosis 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1421379 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1461 CAMK2B is_implicated_in DOID:0080230 autosomal dominant intellectual developmental disorder 54 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:552 pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15928955 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13681 DCHS1 is_implicated_in DOID:988 mitral valve prolapse ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX is_implicated_in DOID:0112021 non-syndromic X-linked intellectual disability ARX-related ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9149697 20070514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:409 liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20392357 20110211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29993116 20211201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33419953 20211201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14344 C1QTNF5 is_implicated_in DOID:0060869 late-onset retinal degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12739037 20120104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3573 FADD is_implicated_in DOID:1240 leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22244917 20160706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29349 CCSER1 is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19507017 20110128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20080081 20110128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:282 ADRA2B is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18953403 20090930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25223 COQ2 is_implicated_in DOID:0070238 primary coenzyme Q10 deficiency 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0060001 withdrawal disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11900601 20240109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11229427 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15995705 20070316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20823 DPP10 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21103062 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20823 DPP10 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14566338 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20823 DPP10 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19672052 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29013 CLEC16A is_implicated_in DOID:13774 Addison's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18593762 20110929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:801 ATP1A3 is_implicated_in DOID:0050635 alternating hemiplegia of childhood ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24431296 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:801 ATP1A3 is_implicated_in DOID:0050635 alternating hemiplegia of childhood ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20668462 20120712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21022 AARS2 is_implicated_in DOID:0111479 combined oxidative phosphorylation deficiency 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:3145 hyperlipoproteinemia type III ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:3145 hyperlipoproteinemia type III ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:199847 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:3145 hyperlipoproteinemia type III ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7175379 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19191 DOCK8 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32297155 20210107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28698188 20231214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20622881 20231214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11692167 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16392638 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12714611 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10835643 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17617515 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15459974 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 is_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16835894 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28570 DNAAF6 is_implicated_in DOID:0111850 primary ciliary dyskinesia 36 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:664 ARG2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20124949 20110329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:664 ARG2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16387594 20110329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28482 DYNLT2B is_implicated_in DOID:0050592 asphyxiating thoracic dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18623 COG8 is_implicated_in DOID:0070260 congenital disorder of glycosylation type IIh ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1142 BTNL2 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20176143 20141215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:67 ABCD3 is_implicated_in DOID:0111066 congenital bile acid synthesis defect 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1142 BTNL2 is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19882345 20141215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27232 CFAP418 is_implicated_in DOID:0081010 Bardet-Biedl syndrome 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28722 COQ5 is_implicated_in DOID:0112138 primary coenzyme Q10 deficiency 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200930 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2169 CNTF is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12404108 20070712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21645 CHCHD2 is_implicated_in DOID:0080504 Parkinson's disease 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:0060887 ossification of the posterior longitudinal ligament of spine ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21034624 20140815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:930 B4GALT7 is_implicated_in DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200826 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 is_implicated_in DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17656222 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24323 CARTPT is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10805512 20091006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24323 CARTPT is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10574510 20091006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17429315 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17562079 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2348 CREBBP is_implicated_in DOID:1933 Rubinstein-Taybi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9126344 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:705 Leber hereditary optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15838728 20120302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11891 CLEC3B is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15334463 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24036 APC2 is_implicated_in DOID:0090131 complex cortical dysplasia with other brain malformations ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191211 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3437 ERCC5 is_implicated_in DOID:0080913 cerebrooculofacioskeletal syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2023 CLCN5 is_implicated_in DOID:0080353 X-linked recessive hypophosphatemic rickets ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181017 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16435384 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16723154 20160629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17178268 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24950410 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24086514 20231206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2592 CYP11B2 is_implicated_in DOID:0110429 dilated cardiomyopathy 1H ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12031704 20180201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3556 FABP2 is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17211557 20070806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3551 F9 is_implicated_in DOID:0080839 X-linked warfarin sensitivity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201118 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2336 CR2 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23612877 20210706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30213 ATP13A2 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26223426 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 is_implicated_in DOID:0111418 familial apolipoprotein C-II deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191106 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12911785 20110805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20128419 20110805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24581936 20160531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24123600 20160531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26250462 20160531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2201 COL3A1 is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1370809 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2201 COL3A1 is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16012458 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2201 COL3A1 is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10706896 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_implicated_in DOID:0060200 amyotrophic lateral sclerosis type 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1142 BTNL2 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1142 BTNL2 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22991420 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2023 CLCN5 is_implicated_in DOID:0111798 X-linked nephrolithiasis type I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3557 FABP3 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18437121 20090527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2528 CTSC is_implicated_in DOID:3389 Papillon-Lefevre disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2528 CTSC is_implicated_in DOID:3389 Papillon-Lefevre disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10593994 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:794 ATIC is_implicated_in DOID:653 purine-pyrimidine metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15114530 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29426 CCBE1 is_implicated_in DOID:0060366 Hennekam syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28909 CCDC22 is_implicated_in DOID:0060572 Ritscher-Schinzel syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20091 AK7 is_implicated_in DOID:0111928 spermatogenic failure 27 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:0090109 autosomal dominant hypocalcemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7874174 20130110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:0090109 autosomal dominant hypocalcemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20501971 20130110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:0090109 autosomal dominant hypocalcemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8813042 20130110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23021409 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1402 CACNB2 is_implicated_in DOID:0110221 Brugada syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_not_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12632020 20131104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21921040 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16355111 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20395963 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15278436 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18566738 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1557 CBX7 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23955597 20160715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2263 COX15 is_implicated_in DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30000 BBS9 is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16380913 20141215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5959 ELP1 is_implicated_in DOID:4667 kyphosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11097445 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:10322 berylliosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20075058 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3257 EIF2B1 is_implicated_in DOID:0070374 leukoencephalopathy with vanishing white matter 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2860 DHCR7 is_implicated_in DOID:14692 Smith-Lemli-Opitz syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2860 DHCR7 is_implicated_in DOID:14692 Smith-Lemli-Opitz syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9683613 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17611497 20190213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 is_implicated_in DOID:0050944 spastic ataxia 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3178 EDN3 is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3178 EDN3 is_implicated_in DOID:10487 Hirschsprung's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9359047 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:589 ATG5 is_implicated_in DOID:0080259 autosomal recessive spinocerebellar ataxia 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17325140 20150615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13203 AICDA is_implicated_in DOID:2959 hyperimmunoglobulin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11112359 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13203 AICDA is_implicated_in DOID:2959 hyperimmunoglobulin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17553565 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13203 AICDA is_implicated_in DOID:2959 hyperimmunoglobulin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15372234 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13203 AICDA is_implicated_in DOID:2959 hyperimmunoglobulin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11007475 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:329 AGRN is_implicated_in DOID:0110657 congenital myasthenic syndrome 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180808 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3602 FBLN5 is_implicated_in DOID:0070135 autosomal recessive cutis laxa type IA ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30718 DNAJB13 is_implicated_in DOID:0110610 primary ciliary dyskinesia 34 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:0080264 exudative vitreoretinopathy 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17436151 20091103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:811 ATP2A1 is_implicated_in DOID:0050692 Brody myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8841193 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:811 ATP2A1 is_implicated_in DOID:0050692 Brody myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11231 ATL1 is_implicated_in DOID:0070156 hereditary sensory neuropathy type 1D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR is_implicated_in DOID:0070007 Seckel syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12640452 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR is_implicated_in DOID:0070007 Seckel syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20893 BCOR is_implicated_in DOID:0111799 syndromic microphthalmia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15004558 20150728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:11512 Budd-Chiari syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16825912 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:11512 Budd-Chiari syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9245936 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:11512 Budd-Chiari syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26238013 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:11512 Budd-Chiari syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:11512 Budd-Chiari syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29771426 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24866 CEP104 is_implicated_in DOID:0081236 autosomal recessive intellectual developmental disorder 77 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220831 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23740135 20190515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2605 CYP27A1 is_implicated_in DOID:4810 cerebrotendinous xanthomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2019602 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2605 CYP27A1 is_implicated_in DOID:4810 cerebrotendinous xanthomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20513133 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 is_implicated_in DOID:13544 low tension glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16785856 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:262 ADORA1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19019667 20101215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_implicated_in DOID:10024 migraine with aura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9513185 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1552 CBX2 is_not_implicated_in DOID:14447 gonadal dysgenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23219007 20141003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_not_implicated_in DOID:1727 retinal vein occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14994919 20131104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3273 EIF3H is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10362802 20080218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3026 DRD5 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14699430 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3026 DRD5 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11032390 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3026 DRD5 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27218147 20230719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:263 ADORA2A is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19019667 20101215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29849 CADM2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31341224 20200103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29106 DDHD2 is_implicated_in DOID:0110806 hereditary spastic paraplegia 54 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22964275 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23725389 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_implicated_in DOID:0080958 primary hypoalphalipoproteinemia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:0111907 thrombophilia due to thrombin defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9313761 20111219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1044 BGN is_implicated_in DOID:0111861 Meester-Loeys syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200619 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22171659 20111222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2642 CYP4A11 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16144986 20070614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:952 BARD1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16333312 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:952 BARD1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17972171 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:952 BARD1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17333333 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_not_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20731606 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_not_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22200898 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2077 CLN6 is_implicated_in DOID:0110729 neuronal ceroid lipofuscinosis 6A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0050576 Senior-Loken syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14867 APOL4 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19344 DENND5A is_implicated_in DOID:0080441 developmental and epileptic encephalopathy 49 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4035 ACKR1 is_implicated_in DOID:12978 Plasmodium vivax malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200527 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_implicated_in DOID:0110024 age related macular degeneration 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:8955 sideroblastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24325359 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:173 ACVR2A is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14988818 20080924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_implicated_in DOID:707 B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21918980 20160520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22840486 20140319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17206692 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:0110845 xeroderma pigmentosum group D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2330 CPT2 is_implicated_in DOID:3146 lipid metabolism disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1528846 20070326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9787187 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1395 CACNA1H is_implicated_in DOID:446 primary hyperaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:815 ATP2B2 is_implicated_in DOID:0110467 autosomal recessive nonsyndromic deafness 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30814645 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19693 COQ4 is_implicated_in DOID:0070244 primary coenzyme Q10 deficiency 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1494 ALX1 is_implicated_in DOID:0081047 frontonasal dysplasia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17855454 20161202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17854076 20161202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30373 DNMBP is_implicated_in DOID:0070354 cataract 48 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190605 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16584111 20190426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10782900 20190426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21594562 20190426 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:1712 aortic valve stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11903341 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_implicated_in DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_implicated_in DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24805811 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_implicated_in DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24289169 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_implicated_in DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24327140 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3508 EWSR1 is_implicated_in DOID:3369 Ewing sarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3508 EWSR1 is_implicated_in DOID:3369 Ewing sarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1522903 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3013 DPYS is_implicated_in DOID:653 purine-pyrimidine metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9718352 20070111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1504 CASP3 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20661084 20171004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20893 BCOR is_implicated_in DOID:5517 stomach carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27313181 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:0060643 primary sclerosing cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12783301 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:2987 familial mediterranean fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24773260 20201002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:2987 familial mediterranean fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17610314 20201002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16519598 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9555662 20130311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3557 FABP3 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12872269 20150121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:13166 allergic bronchopulmonary aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11243954 20100831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:967 BBS2 is_implicated_in DOID:0110124 Bardet-Biedl syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16869018 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2394 CRYBA1 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21850182 20150821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2394 CRYBA1 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22919269 20150821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2394 CRYBA1 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20142846 20150821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19046748 20091026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16492910 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16126332 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2015 CLCA1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14985398 20101111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:92 ACADVL is_implicated_in DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:0110759 type 1 diabetes mellitus 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231129 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:12574 posterior uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23497844 20131015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2324 CPSF1 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200408 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:0080205 CAKUT ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24131739 20171106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1397 CACNA1S is_implicated_in DOID:8545 malignant hyperthermia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1397 CACNA1S is_implicated_in DOID:8545 malignant hyperthermia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9199552 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:12704 ataxia telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21394217 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20141440 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22496165 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:48 ABCB7 is_implicated_in DOID:0050554 X-linked sideroblastic anemia with ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11843825 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:48 ABCB7 is_implicated_in DOID:0050554 X-linked sideroblastic anemia with ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:48 ABCB7 is_implicated_in DOID:0050554 X-linked sideroblastic anemia with ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10196363 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:48 ABCB7 is_implicated_in DOID:0050554 X-linked sideroblastic anemia with ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11050011 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27340861 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:0060700 familial hypocalciuric hypercalcemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7916660 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:0060700 familial hypocalciuric hypercalcemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21034470 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:0060700 familial hypocalciuric hypercalcemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:0060700 familial hypocalciuric hypercalcemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7726161 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17397 BANF1 is_implicated_in DOID:0081334 Nestor-Guillermo progeria syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1541 CBL is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20126411 20170106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27230 ESCO2 is_implicated_in DOID:5325 Roberts syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18186147 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27230 ESCO2 is_implicated_in DOID:5325 Roberts syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27230 ESCO2 is_implicated_in DOID:5325 Roberts syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15821733 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2961 DYNC1H1 is_implicated_in DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2516 CTNND2 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24256404 20201214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16446 CARD14 is_implicated_in DOID:9212 pityriasis rubra pilaris ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23497844 20131015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 is_implicated_in DOID:8158 complement component 5 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21883707 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2714 DCX is_implicated_in DOID:0111169 subcortical band heterotopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10369164 20170518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26464823 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13746 BRINP2 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21334929 20190419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19946 CAMSAP1 is_implicated_in DOID:0090131 complex cortical dysplasia with other brain malformations ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:5683 hereditary breast ovarian cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230927 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:713 ARSA is_implicated_in DOID:10581 metachromatic leukodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15375602 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:713 ARSA is_implicated_in DOID:10581 metachromatic leukodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:713 ARSA is_implicated_in DOID:10581 metachromatic leukodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15026521 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31802707 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28821819 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24562971 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33504116 20220418 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:13207 proliferative diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23549806 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 is_implicated_in DOID:0060284 paroxysmal nocturnal hemoglobinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:5750 endometrial serous adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16650962 20080117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24123 B9D1 is_implicated_in DOID:0050778 Meckel syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3157 EDA is_implicated_in DOID:0111664 ectodermal dysplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8696334 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3157 EDA is_implicated_in DOID:0111664 ectodermal dysplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22366260 20170828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:5679 retinal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17562993 20131212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:4029 gastritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20380014 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_implicated_in DOID:480 movement disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10220438 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6027 CXCR2 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23615182 20130828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2623 CYP2C9 is_implicated_in DOID:9993 hypoglycemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15963101 20090519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:12549 hepatitis A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12458570 20201028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2615 CYP2B6 is_implicated_in DOID:9828 neonatal abstinence syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28320034 20231130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4888 CFHR1 is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23243267 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4888 CFHR1 is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20893 BCOR is_implicated_in DOID:0111809 syndromic microphthalmia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221028 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20893 BCOR is_implicated_in DOID:0111809 syndromic microphthalmia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15004558 20221028 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2903 DLG4 is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200318 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23053964 20140624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28643196 20190703 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190703 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5394 CFI is_implicated_in DOID:0110025 age related macular degeneration 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 is_implicated_in DOID:9278 hyperargininemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 is_implicated_in DOID:9278 hyperargininemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7649538 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:0050591 tooth agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23079991 20171107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:0050591 tooth agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26166641 20171107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB is_implicated_in DOID:3265 chronic granulomatous disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8083361 20160311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB is_implicated_in DOID:3265 chronic granulomatous disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11122248 20160311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1232 EGLN1 is_implicated_in DOID:8432 polycythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21933857 20160622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1232 EGLN1 is_implicated_in DOID:8432 polycythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23859443 20160622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1232 EGLN1 is_implicated_in DOID:8432 polycythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16407130 20160622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1232 EGLN1 is_implicated_in DOID:8432 polycythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21828119 20160622 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13201 ADAMTS10 is_implicated_in DOID:0050475 Weill-Marchesani syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1076 BMPR1A is_implicated_in DOID:0050787 juvenile polyposis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11536076 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1076 BMPR1A is_implicated_in DOID:0050787 juvenile polyposis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:896 AVPR1B is_not_implicated_in DOID:3324 mood disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23962971 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19348 BET1L is_implicated_in DOID:13223 uterine fibroid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23892540 20190329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28337 C9orf72 is_implicated_in DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:164 ACTN2 is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11078270 20180226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28854834 20240112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17642 DCLRE1C is_implicated_in DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:0080652 calcium oxalate nephrolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20602573 20130102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:0080652 calcium oxalate nephrolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21966463 20130102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:0080652 calcium oxalate nephrolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17018660 20130102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:0080652 calcium oxalate nephrolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21183554 20130102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19522715 20140528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2027 CLCNKB is_implicated_in DOID:0110144 Bartter disease type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16624482 20130816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15590562 20130816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22300950 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0070118 Meckel syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0070118 Meckel syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17705300 20230630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0070118 Meckel syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17564974 20230630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1480 CAPN3 is_implicated_in DOID:0110273 autosomal dominant limb-girdle muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16410 DNAJC30 is_implicated_in DOID:0112065 nuclear type mitochondrial complex I deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210707 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3413 EPM2A is_implicated_in DOID:3534 Lafora disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18806293 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22273503 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1964 CHRNB4 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20587604 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1964 CHRNB4 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29416783 20220225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31948 CEACAM16 is_implicated_in DOID:0110574 autosomal dominant nonsyndromic deafness 4B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:9775 diastolic heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19021695 20201105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:9775 diastolic heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19752885 20201105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19520430 20160809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25957891 20160809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19358 ALG12 is_implicated_in DOID:0080559 congenital disorder of glycosylation Ig ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2343 CRB1 is_implicated_in DOID:0111541 pigmented paravenous chorioretinal atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2343 CRB1 is_implicated_in DOID:0111541 pigmented paravenous chorioretinal atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15623792 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17288 APOA5 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17548321 20090917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:0060673 Peters anomaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15621878 20140115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2214 COL7A1 is_implicated_in DOID:4959 epidermolysis bullosa dystrophica ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8275094 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2214 COL7A1 is_implicated_in DOID:4959 epidermolysis bullosa dystrophica ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11551 BRF1 is_implicated_in DOID:0080898 cerebellofaciodental syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15944607 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21228718 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:12449 aplastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26999617 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2209 COL5A1 is_implicated_in DOID:14720 Ehlers-Danlos syndrome classic type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180711 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1246 C1R is_implicated_in DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24526 ATL3 is_implicated_in DOID:0070154 hereditary sensory neuropathy type 1F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2187 COL11A2 is_implicated_in DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2187 COL11A2 is_implicated_in DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7859284 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3497 EVC is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29257216 20220926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1779 CDK8 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34815954 20220929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12161353 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18141 DCDC2 is_implicated_in DOID:14268 sclerosing cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18141 DCDC2 is_implicated_in DOID:14268 sclerosing cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27319779 20220420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2202 COL4A1 is_implicated_in DOID:0111547 retinal arterial tortuosity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2082 CLOCK is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23912676 20151009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2082 CLOCK is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23781009 20151009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2082 CLOCK is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23357097 20151009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:3969 thyroid gland papillary carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19286843 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2077 CLN6 is_implicated_in DOID:14503 neuronal ceroid lipofuscinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11791207 20170420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2077 CLN6 is_implicated_in DOID:14503 neuronal ceroid lipofuscinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21549341 20170420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2201 COL3A1 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19424605 20130823 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12480694 20161118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1486 CAPN9 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10835488 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32925 ATXN8 is_implicated_in DOID:0050959 spinocerebellar ataxia type 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18233 BANK1 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21989138 20141212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12480694 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14986169 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9398726 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:7188 autoimmune thyroiditis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16352685 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11685455 20090521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_not_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19736056 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_not_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24521996 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26751916 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23207642 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23056235 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29993116 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22441734 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1103 BRD2 is_implicated_in DOID:4890 juvenile myoclonic epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12830434 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_not_implicated_in DOID:9675 pulmonary emphysema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10853854 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:930 B4GALT7 is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10473568 20070202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14211 BLNK is_implicated_in DOID:2583 agammaglobulinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10583958 20070312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:349 AHSG is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17062776 20070705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2592 CYP11B2 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11687612 20180201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23454776 20140606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:216 ADAM9 is_implicated_in DOID:0111020 cone-rod dystrophy 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2911 DLST is_implicated_in DOID:0050773 paraganglioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190710 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2478 CST6 is_implicated_in DOID:0111651 ectodermal dysplasia 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190904 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1057 BLK is_implicated_in DOID:0111109 maturity-onset diabetes of the young type 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27198213 20210107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17208 BICD2 is_implicated_in DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1014 BCR is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:240 ADCY9 is_not_implicated_in DOID:3324 mood disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11840511 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1069 BMP2 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15334463 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:986 BCKDHA is_implicated_in DOID:9269 maple syrup urine disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1943689 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:986 BCKDHA is_implicated_in DOID:9269 maple syrup urine disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:986 BCKDHA is_implicated_in DOID:9269 maple syrup urine disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8037208 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17025 COL21A1 is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3482 ETFB is_implicated_in DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3437 ERCC5 is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21390047 20170508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18285692 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3436 ERCC4 is_implicated_in DOID:0110848 xeroderma pigmentosum group F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2020 CLCN2 is_implicated_in DOID:446 primary hyperaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16246971 20120912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28693442 20210223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:3507 dermatofibrosarcoma protuberans ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12641779 20120227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:3507 dermatofibrosarcoma protuberans ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22153773 20120227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:814 ATP2B1 is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220629 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21993476 20120711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25032 FAM151A is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3443 EREG is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30634928 20201006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17711870 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX is_implicated_in DOID:14744 Partington syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24528893 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX is_implicated_in DOID:14744 Partington syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:409 liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16408483 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3133 EBP is_implicated_in DOID:0111865 MEND syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_implicated_in DOID:0060295 complement component 2 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30726 CFAP70 is_implicated_in DOID:0111912 spermatogenic failure 41 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191211 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2187 COL11A2 is_implicated_in DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7859284 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2187 COL11A2 is_implicated_in DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2227 COMP is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7670471 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2227 COMP is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7670472 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24212 CISD2 is_implicated_in DOID:0110630 Wolfram syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17846994 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24212 CISD2 is_implicated_in DOID:0110630 Wolfram syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_implicated_in DOID:0050636 familial visceral amyloidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_implicated_in DOID:0070028 APP-related cerebral amyloid angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3010 DPP6 is_not_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20137488 20120203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_not_implicated_in DOID:9477 pulmonary embolism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25316662 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19954746 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15896660 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22154374 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11884895 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:42 ABCB11 is_implicated_in DOID:0070222 progressive familial intrahepatic cholestasis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20447715 20190606 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:42 ABCB11 is_implicated_in DOID:0070222 progressive familial intrahepatic cholestasis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23758865 20190606 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:42 ABCB11 is_implicated_in DOID:0070222 progressive familial intrahepatic cholestasis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190606 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2770 DES is_implicated_in DOID:0080092 myofibrillar myopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24080 APH1B is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18987747 20180803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:11123 Henoch-Schoenlein purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15315169 20160229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32286246 20200618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2623 CYP2C9 is_implicated_in DOID:0080665 warfarin resistance ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:11211 buphthalmos ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:11211 buphthalmos ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12567107 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:11211 buphthalmos ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10227395 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:11211 buphthalmos ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23922489 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:11211 buphthalmos ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16490498 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:11211 buphthalmos ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19597567 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:11211 buphthalmos ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19247456 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:11211 buphthalmos ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19593207 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:11211 buphthalmos ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20664688 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33983 CFC1B is_implicated_in DOID:0050545 visceral heterotaxy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25423076 20221116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33983 CFC1B is_implicated_in DOID:0050545 visceral heterotaxy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11062482 20221116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2214 COL7A1 is_implicated_in DOID:0111345 transient bullous dermolysis of the newborn ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25531380 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28927037 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28598207 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19919686 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:3498 pancreatic ductal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25470788 20171207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9688 CAVIN1 is_implicated_in DOID:0111138 congenital generalized lipodystrophy type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1698 CD79A is_implicated_in DOID:0081137 agammaglobulinemia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_implicated_in DOID:0112125 alpha-thalassemia myelodysplasia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:10608 celiac disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18728522 20091103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2858 DGUOK is_implicated_in DOID:700 mitochondrial metabolism disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11687800 20070404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15334463 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:0060233 cardiofaciocutaneous syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16474404 20140219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:3069 malignant astrocytoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25346165 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:3069 malignant astrocytoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19794125 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1958 CHRNA4 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14563588 20070807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15059615 20070807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12860263 20070807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_not_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10898895 20170901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_not_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15389764 20170901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_not_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11449395 20170901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26291 BBS10 is_implicated_in DOID:0110132 Bardet-Biedl syndrome 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13743 ALOXE3 is_implicated_in DOID:0060711 autosomal recessive congenital ichthyosis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:360 AIRE is_implicated_in DOID:14040 autoimmune polyendocrine syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9921903 20070111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13841 ADGRG6 is_implicated_in DOID:0060558 lethal congenital contracture syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19747 EVC2 is_implicated_in DOID:12714 Ellis-Van Creveld syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12571802 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19747 EVC2 is_implicated_in DOID:12714 Ellis-Van Creveld syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13887 ABCG8 is_implicated_in DOID:0090019 sitosterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11452359 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13887 ABCG8 is_implicated_in DOID:0090019 sitosterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13887 ABCG8 is_implicated_in DOID:0090019 sitosterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11099417 20191127 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18292 CFC1 is_implicated_in DOID:0050545 visceral heterotaxy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1482 CAPN5 is_implicated_in DOID:9719 neovascular inflammatory vitreoretinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24040354 20210412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25070 ACD is_implicated_in DOID:0070023 autosomal dominant dyskeratosis congenita 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25536 DALRD3 is_implicated_in DOID:0112220 developmental and epileptic encephalopathy 86 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15059615 20070807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14709372 20070807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30664 CLPB is_implicated_in DOID:0081134 3-methylglutaconic aciduria type 7b ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220831 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:343 AHCY is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18635682 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2938 DMXL2 is_implicated_in DOID:0080267 autosomal dominant nonsyndromic deafness 71 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2615 CYP2B6 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28389387 20210218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2615 CYP2B6 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30239753 20210218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:535 ANXA11 is_implicated_in DOID:0080225 amyotrophic lateral sclerosis type 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12451219 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25244 CCDC39 is_implicated_in DOID:0110598 primary ciliary dyskinesia 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:452 AMBN is_implicated_in DOID:0110065 amelogenesis imperfecta type 1F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19563524 20131118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26684 CFAP43 is_implicated_in DOID:1572 normal pressure hydrocephalus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_implicated_in DOID:2320 obstructive lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2475424 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17090 ARHGEF18 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21316 ANKRD11 is_implicated_in DOID:14780 KBG syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221117 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21316 ANKRD11 is_implicated_in DOID:14780 KBG syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21782149 20221117 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21316 ANKRD11 is_implicated_in DOID:14780 KBG syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25424714 20221117 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11941274 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3495 ETV6 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12161353 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3495 ETV6 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3495 ETV6 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9171997 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3495 ETV6 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10502316 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1965 CHRND is_implicated_in DOID:0110666 congenital myasthenic syndrome 3A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181024 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3177 EDN2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10976780 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3177 EDN2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10489105 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3273 EIF3H is_implicated_in DOID:10286 prostate carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14997205 20080218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3239 EGR2 is_implicated_in DOID:0050540 Charcot-Marie-Tooth disease type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180425 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18926681 20190814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2409 CRYGB is_implicated_in DOID:0110236 cataract 39 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD is_implicated_in DOID:1561 cognitive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24265581 20170428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24245 DRC1 is_implicated_in DOID:0110596 primary ciliary dyskinesia 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:494 ANK3 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33729739 20220830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25057782 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18806885 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19182256 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3239 EGR2 is_implicated_in DOID:0110195 Charcot-Marie-Tooth disease type 4E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11393 AURKA is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15466974 20080620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11596779 20160229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_not_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21543111 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28216 COX14 is_implicated_in DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23864767 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15714130 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19068087 20100607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 is_implicated_in DOID:11664 nephrosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19745105 20130315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:359 AIPL1 is_implicated_in DOID:1432 blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10873396 20070111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:0060688 arteriovenous malformations of the brain ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16179574 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:0060688 arteriovenous malformations of the brain ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24876084 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22300950 20131112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12426226 20150210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:60 ABCC9 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15034580 20061209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2207 COL4A5 is_implicated_in DOID:0110034 X-linked Alport syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10611 CCL13 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19865101 20150406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20595690 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20513133 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17914026 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2303 CPE is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9662053 20070720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1750 CDH11 is_implicated_in DOID:0080631 Elsahy-Waters syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26970 COX20 is_implicated_in DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1552 CBX2 is_implicated_in DOID:0111776 46,XY sex reversal 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14558 CLEC7A is_implicated_in DOID:2058 chronic mucocutaneous candidiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21907168 20200514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:11119 Gilles de la Tourette syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25258183 20170828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 is_implicated_in DOID:0111428 essential tremor 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9699897 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20908 DZIP1 is_implicated_in DOID:988 mitral valve prolapse ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:27337 ANO5 is_implicated_in DOID:0111338 isolated elevated serum creatine phosphokinase levels ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23055322 20161220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:14067 Plasmodium falciparum malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18003641 20201013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17574 ALPK3 is_implicated_in DOID:0080326 familial hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16410 DNAJC30 is_implicated_in DOID:1928 Williams-Beuren syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12073013 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 is_implicated_in DOID:0110850 xeroderma pigmentosum group B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:681 ARHGEF1 is_implicated_in DOID:0111991 immunodeficiency 62 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200624 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23123147 20171108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5394 CFI is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22815349 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5394 CFI is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23685748 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2956 DNASE1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_implicated_in DOID:6688 autoimmune lymphoproliferative syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15381239 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25407004 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19 AANAT is_implicated_in DOID:0050628 advanced sleep phase syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12736803 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16514903 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1001 BCL6 is_implicated_in DOID:707 B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11821949 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20103627 20100407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_not_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9270088 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_not_implicated_in DOID:9669 senile cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21599457 20150924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18672 CDK5RAP2 is_implicated_in DOID:0050569 Seckel syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26436113 20171108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1165 DAGLA is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25592173 20220215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21493 DNAAF4 is_implicated_in DOID:4428 dyslexia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2035 CLDN14 is_implicated_in DOID:0110487 autosomal recessive nonsyndromic deafness 29 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2026 CLCNKA is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15044642 20070322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21645569 20110913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_implicated_in DOID:750 peptic ulcer disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23267857 20210317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_implicated_in DOID:750 peptic ulcer disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9867757 20210317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12771 CCN6 is_implicated_in DOID:381 arthropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10471507 20070219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23314339 20211203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:9974 drug dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24455721 20231204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10082437 20131118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19740340 20131118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17288 APOA5 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19107359 20090917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1385 CABP2 is_implicated_in DOID:0110537 autosomal recessive nonsyndromic deafness 93 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:6039 uveal melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22187320 20140820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2974 DNM2 is_implicated_in DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17183065 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1119 BST2 is_implicated_in DOID:635 acquired immunodeficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26885809 20190423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2472 CSRP3 is_implicated_in DOID:0110449 dilated cardiomyopathy 1M ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2204 COL4A3 is_implicated_in DOID:0110033 autosomal recessive Alport syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:3905 lung carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22797725 20220404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25781 ARMC5 is_implicated_in DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13886 ABCG5 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11099417 20061209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28296 DYNC2I2 is_implicated_in DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7555560 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 is_implicated_in DOID:0060063 sideroblastic anemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7560104 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 is_implicated_in DOID:0060063 sideroblastic anemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11110715 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 is_implicated_in DOID:0060063 sideroblastic anemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 is_implicated_in DOID:0060063 sideroblastic anemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21252495 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3519 EYA1 is_implicated_in DOID:14702 branchiootorenal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16491411 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3519 EYA1 is_implicated_in DOID:14702 branchiootorenal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9361030 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3519 EYA1 is_implicated_in DOID:14702 branchiootorenal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3519 EYA1 is_implicated_in DOID:14702 branchiootorenal syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17637804 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17642 DCLRE1C is_implicated_in DOID:12177 common variable immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26476407 20160620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1232 EGLN1 is_implicated_in DOID:0080338 familial erythrocytosis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:0080846 latent autoimmune diabetes in adults ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12021137 20180206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:10892 hypospadias ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17579196 20070810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2701 DCC is_implicated_in DOID:0111153 congenital mirror movement disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34117140 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20582 CYP2U1 is_implicated_in DOID:0110808 hereditary spastic paraplegia 56 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1069 BMP2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17656261 20080116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:800 ATP1A2 is_implicated_in DOID:14264 benign neonatal seizures ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12953268 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10090949 20160623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26104880 20160623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:14184 polyneuropathy due to drug ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35135151 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:13550 angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17706090 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:797 ATOH1 is_implicated_in DOID:0050564 autosomal dominant nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17904846 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20604969 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19429453 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14633679 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16261413 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19739075 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22792352 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15604249 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16808847 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12692057 20200128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2726 DDIT3 is_implicated_in DOID:5363 myxoid liposarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1283316 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21027 ANKK1 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28854834 20240112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21027 ANKK1 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29550268 20240112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:251 ADH1C is_implicated_in DOID:0060892 late onset Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17283861 20070406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_not_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24861918 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18439068 20191212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26827895 20191212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1916152 20191212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29765251 20191212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25778454 20191212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12940444 20191212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18423 DEPDC5 is_implicated_in DOID:2234 focal epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:3304 germinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9554401 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:0080764 hereditary diffuse gastric cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25021 ASTE1 is_implicated_in DOID:0112182 mismatch repair cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21869 AGK is_implicated_in DOID:0110245 cataract 38 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:0110014 age related macular degeneration 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13733 CDH23 is_implicated_in DOID:0110467 autosomal recessive nonsyndromic deafness 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22072187 20121214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3585 FANCD2 is_implicated_in DOID:0111083 Fanconi anemia complementation group D2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1966 CHRNE is_implicated_in DOID:0110679 congenital myasthenic syndrome 4C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2204 COL4A3 is_implicated_in DOID:0111365 benign familial hematuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2204 COL4A3 is_implicated_in DOID:0111365 benign familial hematuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19357112 20230505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19041 COQ8B is_implicated_in DOID:0080391 nephrotic syndrome type 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19721 CANT1 is_implicated_in DOID:0070302 multiple epiphyseal dysplasia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25716 COA7 is_implicated_in DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190515 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17020471 20070406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21397927 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:746 ASL is_implicated_in DOID:9252 amino acid metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2263616 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2843 DGAT1 is_implicated_in DOID:0060778 congenital diarrhea 7 with exudative enteropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190904 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1912 CHAT is_implicated_in DOID:0110671 congenital myasthenic syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11172068 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1912 CHAT is_implicated_in DOID:0110671 congenital myasthenic syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32393145 20211105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17026497 20090505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1912 CHAT is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12401548 20151215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:122 ACP1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9198310 20090911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:122 ACP1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2373509 20090911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19470683 20090806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1445 CALM2 is_implicated_in DOID:0110656 long QT syndrome 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3192 EEF1A2 is_implicated_in DOID:0080463 developmental and epileptic encephalopathy 33 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:0060249 scoliosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24833718 20170615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20814407 20110329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 is_implicated_in DOID:1936 atherosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17082469 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:129 ACTA1 is_implicated_in DOID:0081340 congenital myopathy 2C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230607 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3330 EML1 is_implicated_in DOID:0111169 subcortical band heterotopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17564249 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18614560 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20932192 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:937 BAG1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17503439 20080620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3439 ERCC8 is_implicated_in DOID:0080907 Cockayne syndrome A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16865293 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3439 ERCC8 is_implicated_in DOID:0080907 Cockayne syndrome A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:34 ABCA4 is_implicated_in DOID:0111013 cone-rod dystrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16935 ATG7 is_implicated_in DOID:0070412 autosomal recessive spinocerebellar ataxia 31 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210728 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_implicated_in DOID:2583 agammaglobulinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8162018 20070312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2926 DMBT1 is_implicated_in DOID:3068 glioblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9288095 20070214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12729892 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1142 BTNL2 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24684463 20141216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2025 CLCN7 is_implicated_in DOID:0110938 autosomal dominant osteopetrosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2397 CRYBB1 is_implicated_in DOID:0110270 cataract 17 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_implicated_in DOID:11240 appendiceal neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30962504 20220429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26715268 20220208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10561 ATXN8OS is_implicated_in DOID:0060892 late onset Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2214 COL7A1 is_implicated_in DOID:0080988 pretibial dystrophic epidermolysis bullosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2592 CYP11B2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18771471 20090526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16512 BSND is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11687798 20070319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_implicated_in DOID:3459 breast carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9916925 20080605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32379894 20200709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_not_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19182256 20140814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24609 CELA2A is_implicated_in DOID:0080945 abdominal obesity-metabolic syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2536 CTSK is_implicated_in DOID:0080038 pycnodysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1786 CDKN1C is_implicated_in DOID:2018 hyperinsulinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11723059 20090707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16968732 20120921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17328 DTNBP1 is_implicated_in DOID:0060545 Hermansky-Pudlak syndrome 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2153 CNGB3 is_implicated_in DOID:0110008 achromatopsia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:1240 leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18426641 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32698 DUOXA2 is_implicated_in DOID:0112184 thyroid dyshormonogenesis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19499236 20131220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16433808 20131220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17245 CPA6 is_implicated_in DOID:0060752 familial temporal lobe epilepsy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3013 DPYS is_implicated_in DOID:0111629 dihydropyrimidinase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1463 CAMK2G is_implicated_in DOID:0060307 autosomal dominant intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200129 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:573 AP4E1 is_implicated_in DOID:0060243 stuttering ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:4481 allergic rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24040855 20140603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:3905 lung carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24175756 20160310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20220260 20101111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_implicated_in DOID:0111095 Fanconi anemia complementation group A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181219 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:967 BBS2 is_implicated_in DOID:0110401 retinitis pigmentosa 74 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH is_not_implicated_in DOID:853 polymyalgia rheumatica ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12051390 20070326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1323 C4A is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21943165 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13523 CLEC4M is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24874302 20201019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17002564 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231129 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_implicated_in DOID:9655 oral mucosa leukoplakia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10873097 20140620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18923236 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH is_not_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16133787 20070614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:2959 hyperimmunoglobulin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11675497 20110913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10936700 20150701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10319853 20150701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12966032 20150701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1917 CHD2 is_implicated_in DOID:0081325 developmental and epileptic encephalopathy 94 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210421 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26824984 20210422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18182994 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1078 BMPR2 is_implicated_in DOID:0081268 pulmonary venoocclusive disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180718 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26824984 20210422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29013 CLEC16A is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21653641 20110928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25003556 20231128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18482588 20190620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19467940 20190620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3570 ACSL3 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28977883 20181220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22513366 20120709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30889 ATP5MK is_implicated_in DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191211 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26147 AGBL5 is_implicated_in DOID:0110361 retinitis pigmentosa 75 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:42 ABCB11 is_implicated_in DOID:0070232 benign recurrent intrahepatic cholestasis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29253 CC2D2A is_not_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22023432 20160926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19190 DOCK7 is_implicated_in DOID:0080415 developmental and epileptic encephalopathy 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9171997 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21723144 20140527 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16025115 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6027 CXCR2 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21214373 20130829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14991826 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15188361 20160811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_implicated_in DOID:12205 dengue disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16274635 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_implicated_in DOID:12205 dengue disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2309 CPLX1 is_implicated_in DOID:0080426 developmental and epileptic encephalopathy 63 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3085 DVL1P1 is_implicated_in DOID:11198 DiGeorge syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8644734 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2596 CYP1A2 is_implicated_in DOID:3132 porphyria cutanea tarda ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20957336 20170109 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3048 DSG1 is_implicated_in DOID:0081108 keratosis palmoplantaris striata 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10332028 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3048 DSG1 is_implicated_in DOID:0081108 keratosis palmoplantaris striata 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2230 COPA is_implicated_in DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2501 CTH is_implicated_in DOID:0090142 cystathioninuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16701918 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19587357 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:438 ALPL is_implicated_in DOID:14213 hypophosphatasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8406453 20070116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2955 DNAL4 is_implicated_in DOID:0111153 congenital mirror movement disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17145981 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14412 AGXT2 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30284143 20230721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26531698 20160801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_not_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14673528 20190516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:0050856 oppositional defiant disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10380986 20130930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14412 AGXT2 is_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26984639 20230721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:5683 hereditary breast ovarian cancer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:60 ABCC9 is_implicated_in DOID:0050650 familial atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1932 CHI3L1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:51 ABCC1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20487524 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:0080797 nasal type extranodal NK/T-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12466128 20140623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_not_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32386188 20200618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:573 AP4E1 is_implicated_in DOID:0110803 hereditary spastic paraplegia 51 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_implicated_in DOID:10603 glucose intolerance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11959336 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2876 DIAPH1 is_implicated_in DOID:0110541 autosomal dominant nonsyndromic deafness 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15045629 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3437 ERCC5 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23534771 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2410 CRYGC is_implicated_in DOID:0110235 cataract 2 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19221398 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15821736 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23198 CYP4V2 is_implicated_in DOID:0050664 Bietti crystalline corneoretinal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2063 CLIC2 is_implicated_in DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:277 ADRA1A is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:114750 20120229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_implicated_in DOID:0050663 Bethlem myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1121 BTC is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16683131 20090513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23099237 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2436 CSF2RB is_implicated_in DOID:12120 pulmonary alveolar proteinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:27337 ANO5 is_implicated_in DOID:0111533 gnathodiaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15124103 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27337 ANO5 is_implicated_in DOID:0111533 gnathodiaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27337 ANO5 is_implicated_in DOID:0111533 gnathodiaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23047743 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10948075 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16644713 20120125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19721 CANT1 is_implicated_in DOID:0060462 Desbuquois dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1956 CHRNA2 is_implicated_in DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19723917 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:11265 trachoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20015396 20211105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26837 AMER1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26071483 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26837 AMER1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31243121 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R is_implicated_in DOID:0090120 hereditary neutrophilia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17221209 20070406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2180 COCH is_implicated_in DOID:0110593 autosomal dominant nonsyndromic deafness 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16391 CARD9 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220629 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23619522 20130903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25007268 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26716642 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1929 CHGA is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20663522 20121019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:13316 exocrine pancreatic insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9254853 20100827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:13316 exocrine pancreatic insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8535440 20100827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18648 DPP9 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A is_implicated_in DOID:0111181 familial hemiplegic migraine 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18233 BANK1 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19815934 20141212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:0050860 colorectal adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27978548 20220502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:0050860 colorectal adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26241700 20220502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18802 ATPAF2 is_implicated_in DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1802 CDSN is_implicated_in DOID:0110699 hypotrichosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2097 CMA1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15924217 20070606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:291 ADSL is_implicated_in DOID:0050762 adenylosuccinase lyase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14889 DNAJB11 is_implicated_in DOID:0080322 polycystic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11495633 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2074 CLN3 is_implicated_in DOID:0110731 neuronal ceroid lipofuscinosis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1324 C4B is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17503323 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12949934 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27232 CFAP418 is_implicated_in DOID:0111022 cone-rod dystrophy 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_not_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2609873 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25419 ARL13B is_implicated_in DOID:0111003 Joubert syndrome 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25419 ARL13B is_implicated_in DOID:0111003 Joubert syndrome 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18674751 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1727 CDC25C is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12124347 20100706 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1105 BRDT is_implicated_in DOID:14228 oligospermia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22016351 20140930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1762 CDH3 is_implicated_in DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_not_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17072959 20100316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17098 DICER1 is_implicated_in DOID:0080615 nephroma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24481001 20210716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28648 DIS3L2 is_implicated_in DOID:0060476 Perlman syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH is_implicated_in DOID:0090145 dopamine beta-hydroxylase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:1577 limited scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22402147 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3259 EIF2B3 is_implicated_in DOID:0070372 leukoencephalopathy with vanishing white matter 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14597737 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 is_implicated_in DOID:8432 polycythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25792003 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 is_implicated_in DOID:8432 polycythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18650473 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 is_implicated_in DOID:0050645 arterial tortuosity syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22943132 20210302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 is_implicated_in DOID:0050811 congenital adrenal hyperplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8964882 20070327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 is_implicated_in DOID:0050811 congenital adrenal hyperplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1430088 20070327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12703 BEST1 is_implicated_in DOID:0111569 autosomal dominant vitreoretinochoroidopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:988 mitral valve prolapse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17379330 20170927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1399 CACNA2D1 is_implicated_in DOID:0070395 developmental and epileptic encephalopathy 110 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:124 ACP5 is_implicated_in DOID:0112295 spondylometaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1950 CHRM1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16931638 20110615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2411 CRYGD is_implicated_in DOID:0110260 cataract 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12676897 20070403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_implicated_in DOID:3454 brain infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18506375 20091026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17016617 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9012828 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1677 CD247 is_implicated_in DOID:0111942 immunodeficiency 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3247 EHHADH is_implicated_in DOID:0080759 Fanconi renotubular syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17145815 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15167447 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11185739 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2435 CSF2RA is_implicated_in DOID:12120 pulmonary alveolar proteinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:1123 spondyloarthropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7866404 20170124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_not_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17482523 20190424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2843 DGAT1 is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14569040 20070614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1951 CHRM2 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12116189 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:950 BAP1 is_implicated_in DOID:6039 uveal melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:27337 ANO5 is_implicated_in DOID:0070201 Miyoshi muscular dystrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:27337 ANO5 is_implicated_in DOID:0070201 Miyoshi muscular dystrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20096397 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17416 ADGRV1 is_implicated_in DOID:0111305 familial febrile seizures 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:164 ACTN2 is_implicated_in DOID:0081342 congenital myopathy 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23397959 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16507781 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21942242 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3706 ATP8B1 is_implicated_in DOID:0070231 benign recurrent intrahepatic cholestasis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190513 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3706 ATP8B1 is_implicated_in DOID:0070231 benign recurrent intrahepatic cholestasis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9918928 20190513 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 is_implicated_in DOID:11044 gastroschisis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17051589 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2867 DHODH is_implicated_in DOID:0111259 postaxial acrofacial dysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16518403 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17576744 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22232432 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18806293 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23233260 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16538171 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3026 DRD5 is_implicated_in DOID:529 blepharospasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11781417 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1960 CHRNA7 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25407004 20220412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:34 ABCA4 is_implicated_in DOID:0110354 retinitis pigmentosa 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_not_implicated_in DOID:2987 familial mediterranean fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23408444 20201002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14899 ADAMTS14 is_implicated_in DOID:2378 relapsing-remitting multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15913795 20120717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:417 ALDOB is_implicated_in DOID:9869 hereditary fructose intolerance syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:417 ALDOB is_implicated_in DOID:9869 hereditary fructose intolerance syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15532022 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:417 ALDOB is_implicated_in DOID:9869 hereditary fructose intolerance syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8096362 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30226566 20231027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9513185 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15832 BSCL2 is_implicated_in DOID:0110770 hereditary spastic paraplegia 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10609 CCL1 is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19057661 20110112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13210 ARL6 is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15314642 20110617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26563376 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2260 COX10 is_implicated_in DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1528 CAV2 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24572674 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_not_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8523390 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2186 COL11A1 is_implicated_in DOID:0080672 fibrochondrogenesis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231108 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3553 FAAH is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15809662 20070627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6026 CXCR1 is_implicated_in DOID:11400 pyelonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17786197 20130211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6026 CXCR1 is_implicated_in DOID:11400 pyelonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22325052 20130211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21472143 20210517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_implicated_in DOID:4927 Klatskin's tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33387086 20210428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3471 ESRRA is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16755280 20070615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15528220 20141106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:32456 ALG11 is_implicated_in DOID:0080567 congenital disorder of glycosylation Ip ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:936 BAD is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24645842 20070320 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1958 CHRNA4 is_implicated_in DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1637 CD1D is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30972222 20210709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 is_implicated_in DOID:0110341 osteogenesis imperfecta type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_implicated_in DOID:0110026 age related macular degeneration 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5394 CFI is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15173250 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5394 CFI is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:868 ATP6AP1 is_implicated_in DOID:0112002 immunodeficiency 47 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12907599 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:244 ADD2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24652215 20150710 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18317464 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15386212 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21222298 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_not_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12029499 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2661 DAB1 is_implicated_in DOID:0050984 spinocerebellar ataxia type 37 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1142 BTNL2 is_implicated_in DOID:10322 berylliosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17927685 20141215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17932344 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20914 BLOC1S3 is_implicated_in DOID:0060546 Hermansky-Pudlak syndrome 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29216 ARHGAP31 is_implicated_in DOID:0060227 Adams-Oliver syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_not_implicated_in DOID:9540 vascular skin disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11457670 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3602 FBLN5 is_implicated_in DOID:3144 cutis laxa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12189163 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18674 DDX41 is_implicated_in DOID:2226 myeloproliferative neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230118 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24113 ATP13A3 is_implicated_in DOID:14557 primary pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220608 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:0110017 age related macular degeneration 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:0081002 Cowden syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180704 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22427038 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14704946 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22475522 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30858 EFTUD2 is_implicated_in DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22305528 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30858 EFTUD2 is_implicated_in DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:4428 dyslexia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14755455 20170828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3602 FBLN5 is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220316 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17693604 20111003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15897313 20111003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29042796 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25339005 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:6713 cerebrovascular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17220293 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 is_implicated_in DOID:13580 cholestasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26324191 20190620 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25242092 20160322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3584 FANCC is_implicated_in DOID:0111087 Fanconi anemia complementation group C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:1580 diffuse scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22402147 20190726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3584 FANCC is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23028338 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1324 C4B is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21943165 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_implicated_in DOID:13839 extrapyramidal and movement disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11927839 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19849 C14orf39 is_implicated_in DOID:0112269 primary ovarian insufficiency 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19706 ADAMTSL4 is_implicated_in DOID:0111149 autosomal recessive isolated ectopia lentis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11037802 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19593802 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1674 CD3E is_implicated_in DOID:0111971 immunodeficiency 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:283 ADRA2C is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12374873 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26551 DZIP1L is_implicated_in DOID:0080273 polycystic kidney disease 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:0111349 hereditary desmoid disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19012493 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:1074 kidney failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19786980 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22374185 20191021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21610221 20191021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3581 BPTF is_implicated_in DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2701 DCC is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2623 CYP2C9 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16303885 20090519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2623 CYP2C9 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16788382 20090519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 is_implicated_in DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18171 CD244 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190329 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3363 ENTPD1 is_implicated_in DOID:0110815 hereditary spastic paraplegia 64 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24674232 20171012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22405089 20171012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2865 DHH is_implicated_in DOID:0111774 46,XY sex reversal 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25613 CWF19L1 is_implicated_in DOID:0080064 autosomal recessive spinocerebellar ataxia 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27214654 20191212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18318 ASXL1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20693432 20160222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_implicated_in DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12476424 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33577997 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21857968 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20728009 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:13949 interstitial cystitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12442007 20121129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:12185 otosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18021008 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:12185 otosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24492129 20140813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2916 DLX3 is_implicated_in DOID:0110053 amelogenesis imperfecta type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3571 ACSL4 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11889465 20150116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_not_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9270088 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:225 ADAR is_implicated_in DOID:11166 Human papillomavirus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31882741 20210402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26782562 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:5041 esophageal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11833070 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:465 AMHR2 is_implicated_in DOID:0050791 persistent Mullerian duct syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2330 CPT2 is_implicated_in DOID:936 brain disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1938 CHKB is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21665002 20181012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1955 CHRNA1 is_implicated_in DOID:0110663 congenital myasthenic syndrome 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:1928 Williams-Beuren syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7545578 20130212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:799 ATP1A1 is_implicated_in DOID:0111558 Charcot-Marie-Tooth disease type 2DD ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1943 CHN1 is_implicated_in DOID:12557 Duane retraction syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200304 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15559 CHCHD10 is_implicated_in DOID:0081357 isolated mitochondrial myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1324 C4B is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19150565 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18085035 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17145815 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11967536 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17104 CDON is_implicated_in DOID:0110877 holoprosencephaly 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3012 DPYD is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26846104 20160621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2637 CYP3A4 is_implicated_in DOID:2987 familial mediterranean fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23408444 20201002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:12678 hypercalcemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180704 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:14018 alcoholic liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23550892 20191212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:14018 alcoholic liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29779728 20191212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:14018 alcoholic liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11051375 20191212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17109 ADAMTS17 is_implicated_in DOID:0050475 Weill-Marchesani syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:1929 supravalvular aortic stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8132745 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:1929 supravalvular aortic stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:299 adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11677205 20100319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32379894 20200709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7907678 20070206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11411 CDKL5 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25315662 20170228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2697 DBP is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17002564 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24154 BMPER is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29253 CC2D2A is_implicated_in DOID:0111004 Joubert syndrome 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29253 CC2D2A is_implicated_in DOID:0111004 Joubert syndrome 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22241855 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29253 CC2D2A is_implicated_in DOID:0111004 Joubert syndrome 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19068953 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1076 BMPR1A is_implicated_in DOID:5295 intestinal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16525031 20070316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1076 BMPR1A is_implicated_in DOID:5295 intestinal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11381269 20070316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1076 BMPR1A is_implicated_in DOID:5295 intestinal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16685657 20070316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15340356 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21197 FA2H is_implicated_in DOID:0110786 hereditary spastic paraplegia 35 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3584 FANCC is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12670332 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15743038 20090911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:4948 gallbladder carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29450669 20211216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:143 ACTC1 is_implicated_in DOID:0110317 hypertrophic cardiomyopathy 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18141 DCDC2 is_implicated_in DOID:4428 dyslexia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19238550 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18141 DCDC2 is_implicated_in DOID:4428 dyslexia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20068590 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18141 DCDC2 is_implicated_in DOID:4428 dyslexia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22750057 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18141 DCDC2 is_implicated_in DOID:4428 dyslexia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27100778 20170630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30595311 20231213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:0060023 immunodeficiency with hyper IgM type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24116184 20160304 RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_implicated_in DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230726 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1149 BUB1B is_implicated_in DOID:0080141 mosaic variegated aneuploidy syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13759 CYFIP1 is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24442360 20161107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1358 C9 is_implicated_in DOID:0110027 age related macular degeneration 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2389 CRYAB is_implicated_in DOID:0110450 dilated cardiomyopathy 1II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2150 CNGA3 is_implicated_in DOID:13399 color blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11536077 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 is_implicated_in DOID:0060639 permanent neonatal diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:2987 familial mediterranean fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24680475 20201102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3123 EBAG9 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12160478 20080214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3273 EIF3H is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11733359 20080218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2638 CYP3A5 is_implicated_in DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21225912 20160722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14630 CRELD1 is_implicated_in DOID:0050651 atrioventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20128419 20110805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15784112 20110805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12911785 20110805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3239 EGR2 is_implicated_in DOID:0110150 Charcot-Marie-Tooth disease type 1D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:2154 nephroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12239584 20080213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_not_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18789574 20161202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15832 BSCL2 is_implicated_in DOID:811 lipodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11479539 20070319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:234 ADCY3 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:10952 nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22895845 20160913 RGD NCBITaxon:9606 Homo sapiens gene HGNC:581 APBB1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12727304 20150722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:581 APBB1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9799084 20150722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18274 CYSLTR2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15454733 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18274 CYSLTR2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15475736 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:1561 cognitive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23517654 20140522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32791957 20210505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:4257 Caffey disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:4257 Caffey disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15864348 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:4257 Caffey disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17309652 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2701 DCC is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8187090 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11086027 20070402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19576953 20141106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3579 FAH is_implicated_in DOID:0050726 tyrosinemia type I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190513 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3579 FAH is_implicated_in DOID:0050726 tyrosinemia type I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27397503 20190513 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2995 DPAGT1 is_implicated_in DOID:0080562 congenital disorder of glycosylation Ij ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17982227 20090514 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1081 BNC1 is_implicated_in DOID:0080873 primary ovarian insufficiency 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:934 BACE2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16023140 20180827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2172 CNTN2 is_implicated_in DOID:0111691 familial adult myoclonic epilepsy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21396 ABHD5 is_implicated_in DOID:0060656 autosomal recessive congenital ichthyosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11590543 20061211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2939 DNA2 is_implicated_in DOID:0070009 Seckel syndrome 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18497059 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21418988 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE is_implicated_in DOID:0050590 severe congenital neutropenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24616599 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE is_implicated_in DOID:0050590 severe congenital neutropenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21425445 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3309 ELANE is_implicated_in DOID:0050590 severe congenital neutropenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10581030 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:823 ATP5F1A is_implicated_in DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230726 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:0111902 thrombophilia due to activated protein C resistance ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22294845 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13210 ARL6 is_implicated_in DOID:0110370 retinitis pigmentosa 55 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9437 EIF2AK2 is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3471 ESRRA is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16755280 20070615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:685 ARHGEF6 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11017088 20070119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2511 CTNNA3 is_implicated_in DOID:0110084 arrhythmogenic right ventricular dysplasia 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29849 CADM2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28401323 20200103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25329329 20160711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:3602 toxic encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17938643 20160526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:143 ACTC1 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9563954 20061215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24891 DCAF8 is_implicated_in DOID:0090069 giant axonal neuropathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3402 EPHX2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20065888 20120302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:1993 rectum cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31740231 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:3457 invasive lobular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12448002 20160721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:0110340 osteogenesis imperfecta type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_implicated_in DOID:3262 phagocyte bactericidal dysfunction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18422995 20101117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5394 CFI is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23900096 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:42 ABCB11 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29755014 20190531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18688 CRB2 is_implicated_in DOID:0111625 ventriculomegaly - cystic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2203 COL4A2 is_implicated_in DOID:0060263 porencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26708157 20171113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:682 ARHGEF2 is_implicated_in DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13517 CLIC5 is_implicated_in DOID:0110464 autosomal recessive nonsyndromic deafness 103 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3258 EIF2B2 is_implicated_in DOID:0060868 leukoencephalopathy with vanishing white matter ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11704758 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:12185 otosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18491423 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19189 DOCK6 is_implicated_in DOID:0060227 Adams-Oliver syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25824905 20221220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19189 DOCK6 is_implicated_in DOID:0060227 Adams-Oliver syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17183695 20111003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3012 DPYD is_implicated_in DOID:14218 dihydropyrimidine dehydrogenase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16691186 20100112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21282363 20121022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26799162 20210317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_implicated_in DOID:4926 bronchiolo-alveolar adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15737014 20110428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 is_implicated_in DOID:1387 hypolipoproteinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11086027 20070402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24581936 20160531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26250462 20160531 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4117 B4GALNT1 is_implicated_in DOID:0110777 hereditary spastic paraplegia 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:122 ACP1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15281007 20090911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20111728 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8768 AIFM1 is_implicated_in DOID:0111741 X-linked deafness 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9722 ALDH18A1 is_implicated_in DOID:0070143 autosomal recessive cutis laxa type III ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26320891 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9722 ALDH18A1 is_implicated_in DOID:0070143 autosomal recessive cutis laxa type III ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24913064 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1052 BIN1 is_implicated_in DOID:0111220 centronuclear myopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12719858 20150210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17135764 20101025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1243 C1QBP is_implicated_in DOID:0111495 combined oxidative phosphorylation deficiency 33 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:853 ATP6V1B1 is_implicated_in DOID:14219 renal tubular acidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9916796 20070131 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16725 DNAAF11 is_implicated_in DOID:0110608 primary ciliary dyskinesia 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13221 BCL11A is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25363760 20160609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9137 EXOSC9 is_implicated_in DOID:0112323 pontocerebellar hypoplasia type 1D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:5742 pancreatic acinar cell adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25266736 20171206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:2355 anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25881102 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25021 ASTE1 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15492 ANKH is_implicated_in DOID:0080801 autosomal dominant craniometaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15492 ANKH is_implicated_in DOID:0080801 autosomal dominant craniometaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11326272 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:10320 asbestosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17159790 20101201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17220335 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25784 DCAF17 is_implicated_in DOID:0112264 Woodhouse-Sakati syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15821736 20111003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11465542 20100114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12975417 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8227344 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1346 C7 is_implicated_in DOID:0060300 complement component 7 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:34341 CDKN2B-AS1 is_implicated_in DOID:1319 brain cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26014354 20220607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22197 AP5Z1 is_implicated_in DOID:0110800 hereditary spastic paraplegia 48 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11494094 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15939106 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29216 ARHGAP31 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19706030 20230728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28025427 20211213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1390 CACNA1C is_implicated_in DOID:0110220 Brugada syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9288046 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18811882 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22146979 20170921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20835238 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24572674 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28924235 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:9008 psoriatic arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20153665 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29739297 20180705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30213 ATP13A2 is_implicated_in DOID:0112348 hereditary spastic paraplegia 78 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3097 DYSF is_implicated_in DOID:0111187 distal myopathy with anterior tibial onset ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2728 DDOST is_implicated_in DOID:0080569 congenital disorder of glycosylation Ir ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:801 ATP1A3 is_implicated_in DOID:1826 epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25656163 20170103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15024730 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_not_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10398279 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2711 DCTN1 is_implicated_in DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12853162 20150210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12719858 20150210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16696009 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3481 ETFA is_implicated_in DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3004 DPH2 is_implicated_in DOID:0070478 diphthamide deficiency syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221123 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:2366 West Nile fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231129 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14616768 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3416 EPOR is_not_implicated_in DOID:0060652 familial erythrocytosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9394420 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20088379 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21308 ELOVL5 is_implicated_in DOID:0050985 spinocerebellar ataxia type 38 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2954 DNAI1 is_implicated_in DOID:0050144 Kartagener syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11231901 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29253 CC2D2A is_not_implicated_in DOID:0111004 Joubert syndrome 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22241855 20160926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25151 ADAT3 is_implicated_in DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:209 ADAM3A is_implicated_in DOID:1748 conjunctival squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25491297 20190107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:0110042 Alzheimer's disease 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12540498 20150114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15853 ARFGEF2 is_implicated_in DOID:0050454 periventricular nodular heterotopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15853 ARFGEF2 is_implicated_in DOID:0050454 periventricular nodular heterotopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14647276 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:0080290 familial erythrocytosis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:11123 Henoch-Schoenlein purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26234573 20160815 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28924235 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25596702 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2593 CYP17A1 is_implicated_in DOID:0050811 congenital adrenal hyperplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2026124 20101129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:120 ACOX2 is_implicated_in DOID:0111067 congenital bile acid synthesis defect 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16920 CIB1 is_implicated_in DOID:13777 epidermodysplasia verruciformis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9295084 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19237606 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2593 CYP17A1 is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16381022 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2027 CLCNKB is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16003175 20070322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:800 ATP1A2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11257061 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13916 APOM is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17674965 20091106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3556 FABP2 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16249461 20070806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16549134 20120912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30689 CAND2 is_not_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29459676 20200123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24102 ARSG is_implicated_in DOID:0050439 Usher syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:0080912 cerebrooculofacioskeletal syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11443545 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:0080912 cerebrooculofacioskeletal syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21027 ANKK1 is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23635803 20240112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14550 CDHR1 is_implicated_in DOID:0111021 cone-rod dystrophy 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20147 CYB5R4 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15504981 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15009175 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:7442 monoclonal gammopathy of uncertain significance ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11167807 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_not_implicated_in DOID:1577 limited scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22402147 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:5517 stomach carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31522447 20210123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13825 ASPSCR1 is_implicated_in DOID:4239 alveolar soft part sarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10859513 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16496 ACSL6 is_implicated_in DOID:1240 leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10502316 20070215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18652532 20100826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_implicated_in DOID:0111097 Fanconi anemia complementation group J ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_implicated_in DOID:0111097 Fanconi anemia complementation group J ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26968956 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1941 CHML is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18343558 20110608 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20039 CAP2 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230809 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16862278 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1762 CDH3 is_implicated_in DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:5327 retinal detachment ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22574936 20140605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11968 CNPY3 is_implicated_in DOID:0080432 developmental and epileptic encephalopathy 60 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:493 ANK2 is_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21859974 20120705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2615 CYP2B6 is_implicated_in DOID:9974 drug dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24455721 20231204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1583 CCND2 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20414251 20220309 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:1394 urinary schistosomiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22288822 20121226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1925 CHEK1 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18381943 20100322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13633 ADIPOQ is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22553514 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2263 COX15 is_implicated_in DOID:3652 Leigh disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15235026 20061130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1440 CALCR is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1440 CALCR is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23137636 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3553 FAAH is_implicated_in DOID:303 substance-related disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3553 FAAH is_implicated_in DOID:303 substance-related disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16972078 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3553 FAAH is_implicated_in DOID:303 substance-related disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12060782 20190502 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:5374 pilomatrixoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:37 skin disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19834688 20170508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:359 AIPL1 is_implicated_in DOID:0110332 Leber congenital amaurosis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2884 DIO2 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17077128 20070807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12605 CLRN1 is_implicated_in DOID:0110841 Usher syndrome type 3A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12605 CLRN1 is_implicated_in DOID:0110841 Usher syndrome type 3A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12145752 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2148 CNGA1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7479749 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:464 AMH is_implicated_in DOID:1923 disorder of sexual development ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1483695 20070410 RGD NCBITaxon:9606 Homo sapiens gene HGNC:895 AVPR1A is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17653244 20080912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1142 BTNL2 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23364395 20141215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 is_implicated_in DOID:4079 heart valve disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15077201 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 is_implicated_in DOID:4079 heart valve disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16816023 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27050953 20170728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24537 CHMP2B is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16807408 20120301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20082485 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17696941 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:381 AKR1B1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15569136 20140318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:823 ATP5F1A is_implicated_in DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230726 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_implicated_in DOID:9993 hypoglycemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21979934 20130807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1964 CHRNB4 is_implicated_in DOID:8618 oral cavity cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24505444 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19383228 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19484664 20100902 RGD NCBITaxon:9606 Homo sapiens gene HGNC:708 ARPC5 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15640605 20121218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16873708 20121218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:409 ALDH1A3 is_implicated_in DOID:0060841 isolated microphthalmia 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:0014667 disease of metabolism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16082424 20070406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16812 COQ8A is_implicated_in DOID:0070241 primary coenzyme Q10 deficiency 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1733 CDK13 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22912832 20221102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_implicated_in DOID:9286 priapism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17408468 20160120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15925890 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15814 ACSS2 is_implicated_in DOID:0050567 orofacial cleft ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27229527 20181221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15814 ACSS2 is_implicated_in DOID:0050567 orofacial cleft ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28543373 20181221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18716406 20101117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19459419 20101117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9536084 20070402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:967 BBS2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17003356 20070416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23336 A2ML1 is_implicated_in DOID:10754 otitis media ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_implicated_in DOID:0050558 Ullrich congenital muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230621 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2890 DKC1 is_implicated_in DOID:0070025 X-linked dyskeratosis congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20921115 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17825267 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14745448 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20214684 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23406 DOLK is_implicated_in DOID:0080565 congenital disorder of glycosylation Im ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9722 ALDH18A1 is_implicated_in DOID:0070132 autosomal recessive cutis laxa type IIIA ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25077174 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9722 ALDH18A1 is_implicated_in DOID:0070132 autosomal recessive cutis laxa type IIIA ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2548 CUBN is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33004870 20230627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15478 ADAM33 is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20156753 20101101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2952 DNAH8 is_implicated_in DOID:0112164 spermatogenic failure 46 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_implicated_in DOID:0111046 platelet-type bleeding disorder 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_not_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17565662 20070730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17223345 20090526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17606874 20090526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21317 DYM is_implicated_in DOID:0111167 Dyggve-Melchior-Clausen disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1508 CASP7 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26621834 20180827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18024013 20140820 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:12129 bulimia nervosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21300128 20171115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:850 ATP5PO is_implicated_in DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9420338 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16116695 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3544 F7 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18353692 20140827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:2154 nephroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:2154 nephroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15689453 20230927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2358 CRHR2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18408560 20110415 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_not_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27982019 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_not_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24175795 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26594 DOK7 is_implicated_in DOID:0111376 fetal akinesia deformation sequence syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190501 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:12703 BEST1 is_implicated_in DOID:0050661 vitelliform macular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180725 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22876137 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1152 BVES is_implicated_in DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1030 BDKRB2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10904024 20110103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2962 DYNC2H1 is_implicated_in DOID:0050592 asphyxiating thoracic dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22499340 20230303 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16159931 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5959 ELP1 is_implicated_in DOID:11589 Riley-Day syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11179021 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5959 ELP1 is_implicated_in DOID:11589 Riley-Day syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11179008 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5959 ELP1 is_implicated_in DOID:11589 Riley-Day syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4512 ADGRG1 is_implicated_in DOID:0080924 bilateral perisylvian polymicrogyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15559 CHCHD10 is_implicated_in DOID:0081356 spinal muscular atrophy, Jokela type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1929 CHGA is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20113265 20121019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:791 ATF6 is_implicated_in DOID:0110009 achromatopsia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22963605 20200427 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3275 EIF3F is_implicated_in DOID:0081228 autosomal recessive intellectual developmental disorder 67 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18806 CAMTA1 is_implicated_in DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2900 DLG1 is_implicated_in DOID:3008 invasive ductal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14871824 20090507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3437 ERCC5 is_implicated_in DOID:0050117 disease by infectious agent ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23118991 20221005 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20040351 20130523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12606536 20130523 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:6132 bronchitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14593914 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2939 DNA2 is_implicated_in DOID:0060873 isolated growth hormone deficiency type IA ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24389050 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2190 COL13A1 is_implicated_in DOID:0110673 congenital myasthenic syndrome 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1407 CACNG3 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21169531 20180419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18548202 20080624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24500602 20161202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30000 BBS9 is_implicated_in DOID:0110131 Bardet-Biedl syndrome 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:886 ATRX is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23104868 20160311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2858 DGUOK is_implicated_in DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:970 BBS5 is_implicated_in DOID:0110127 Bardet-Biedl syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:385 AKR1C2 is_implicated_in DOID:0111773 46,XY sex reversal 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16882736 20130830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1971 CHST3 is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15215498 20070328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4540 CXCR3 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16043121 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15520258 20070406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:461 AMELX is_implicated_in DOID:0110058 amelogenesis imperfecta type 1E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2303 CPE is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11462236 20070720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2592 CYP11B2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10024332 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1077 BMPR1B is_implicated_in DOID:0110978 brachydactyly type A1D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10428310 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2024 CLCN6 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26740945 20190723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:7693 abdominal aortic aneurysm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10848855 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9168184 20070327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2584 CYLD is_implicated_in DOID:0050693 Brooke-Spiegler syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1802 CDSN is_implicated_in DOID:0060283 peeling skin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180606 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2766 DEFB1 is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21077791 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1512 CASQ1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18269685 20091102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1512 CASQ1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15561962 20091102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1512 CASQ1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15561963 20091102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2770 DES is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28171858 20180509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:3457 invasive lobular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17660459 20080201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16422 CARD10 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2717 DDB1 is_implicated_in DOID:2033 communication disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH is_implicated_in DOID:1574 alcohol use disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16252068 20070614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_implicated_in DOID:1561 cognitive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19424489 20150727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12703 BEST1 is_implicated_in DOID:0110396 retinitis pigmentosa 50 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:9675 pulmonary emphysema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21622582 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3005 DPM1 is_implicated_in DOID:0080557 congenital disorder of glycosylation Ie ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25060527 20160519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1095 BPI is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15758620 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2942 DNAH11 is_implicated_in DOID:0110605 primary ciliary dyskinesia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:1407 anterior uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22714898 20131118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3595 FAT1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33106877 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18971 AP1S3 is_implicated_in DOID:0111281 psoriasis 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190904 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21219 CILK1 is_implicated_in DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18513341 20101021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28672 CYBC1 is_implicated_in DOID:0070368 autosomal recessive chronic granulomatous disease 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200722 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16116069 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:657 adenoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11677205 20100319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:257 ADK is_implicated_in DOID:0111038 hypermethioninemia due to adenosine kinase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:728 ARVCF is_implicated_in DOID:11198 DiGeorge syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9126485 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17978 B3GALT6 is_implicated_in DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190501 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_implicated_in DOID:4247 coronary restenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17275003 20090505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8011 CNTNAP1 is_implicated_in DOID:0060558 lethal congenital contracture syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17451 CYSLTR1 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16776674 20101117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24916311 20210420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13523 CLEC4M is_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18708672 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13523 CLEC4M is_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16369534 20200721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:218 ADAMTS2 is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10417273 20061216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3373 EP300 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19347 CUX2 is_implicated_in DOID:0112203 developmental and epileptic encephalopathy 67 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13887 ABCG8 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11099417 20061209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17603290 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9426059 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12496044 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1743 CDC5L is_implicated_in DOID:3347 osteosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18567798 20150707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:1390 hypobetalipoproteinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3473077 20070118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27547913 20220831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3262 AGO1 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25495208 20231115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17272 CENPJ is_implicated_in DOID:0070290 primary autosomal recessive microcephaly 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:9974 drug dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31150143 20231228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19456854 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15996939 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29205 ERGIC1 is_implicated_in DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200805 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:484 ANGPT1 is_implicated_in DOID:14735 hereditary angioedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210616 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_not_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24861918 20211214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29021 CEP290 is_implicated_in DOID:0110136 Bardet-Biedl syndrome 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:325 AGPAT2 is_implicated_in DOID:0111135 congenital generalized lipodystrophy type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180314 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:9743 diabetic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15318096 20090626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3381 EPB42 is_implicated_in DOID:12971 hereditary spherocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1558976 20061221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A is_implicated_in DOID:0050990 episodic ataxia type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A is_implicated_in DOID:0050990 episodic ataxia type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14530926 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2718 DDB2 is_implicated_in DOID:0050427 xeroderma pigmentosum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8798680 20070404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22232432 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23112567 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23233260 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19696172 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18806293 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_not_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15307939 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3342 EN1 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19345444 20120206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13523 CLEC4M is_implicated_in DOID:0050598 extrapulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24874302 20201019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_implicated_in DOID:0050567 orofacial cleft ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19119171 20220208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_not_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24386361 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29849 CADM2 is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21996756 20200103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29160 FASTKD2 is_implicated_in DOID:0070424 combined oxidative phosphorylation deficiency 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18305 ATP6AP2 is_implicated_in DOID:0050571 congenital disorder of glycosylation type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200429 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14412 AGXT2 is_implicated_in DOID:0080832 mild cognitive impairment ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:37120436 20230725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1542 CBLB is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26732495 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1542 CBLB is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29707316 20220104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12452318 20090626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18672 CDK5RAP2 is_implicated_in DOID:10907 microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26436113 20171108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21472143 20210515 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:12732 intermediate uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17417600 20140609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29331 EPG5 is_implicated_in DOID:0060356 Vici syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:492 ANK1 is_implicated_in DOID:2355 anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11372755 20160617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:576 proteinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12606536 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1047 BHMT is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20458436 20230829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:0050864 non-arteritic anterior ischemic optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15043529 20131104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5959 ELP1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11281413 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:14115 toxic shock syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28336767 20201028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21575 AHI1 is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18782849 20161003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19414 DPY19L2 is_implicated_in DOID:0111156 spermatogenic failure 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1732399 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_not_implicated_in DOID:5327 retinal detachment ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18515590 20190228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:9296 cleft lip ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15831593 20070207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13887 ABCG8 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15331430 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:582 APBB2 is_implicated_in DOID:1561 cognitive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23384821 20141210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:13636 Fanconi anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12065746 20070206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:449 ALX3 is_implicated_in DOID:0081045 frontonasal dysplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23109 FAT4 is_implicated_in DOID:0080586 Van Maldergem syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18786 FAM50A is_implicated_in DOID:0050764 Armfield syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200902 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25079 CCDC34 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221102 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29419 EARS2 is_implicated_in DOID:0111493 combined oxidative phosphorylation deficiency 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:0111511 melanoma and neural system tumor syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2516 CTNND2 is_implicated_in DOID:2030 anxiety disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24256404 20201214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16565926 20150813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16627933 20150813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1382 CA8 is_implicated_in DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:704 ARPC1B is_implicated_in DOID:4029 gastritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23292007 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2916 DLX3 is_implicated_in DOID:0111565 trichodontoosseous syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080046 Stickler syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:244 ADD2 is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16497648 20070601 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23790025 20190628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18167406 20190628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_not_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17711409 20111003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:566 AP3B1 is_implicated_in DOID:3082 interstitial lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22009278 20160607 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26824984 20210422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:0014667 disease of metabolism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12878321 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_not_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15381239 20140501 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19191 DOCK8 is_implicated_in DOID:104 bacterial infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25724123 20201203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:494 ANK3 is_implicated_in DOID:0081202 autosomal recessive intellectual developmental disorder 37 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1319 C3AR1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15278436 20110404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17288 APOA5 is_implicated_in DOID:1171 hyperlipoproteinemia type V ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17082760 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31264381 20220322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3054 DSPP is_implicated_in DOID:4154 dentinogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11175790 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3054 DSPP is_implicated_in DOID:4154 dentinogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:635 acquired immunodeficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23372834 20201006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:635 acquired immunodeficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24517233 20201006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3495 ETV6 is_implicated_in DOID:1037 lymphoid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9539781 20160120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:866 ATP6V0A4 is_implicated_in DOID:14219 renal tubular acidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10973252 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2211 COL6A1 is_implicated_in DOID:0050558 Ullrich congenital muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230621 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21708 CCM2 is_implicated_in DOID:0060670 cerebral cavernous malformation 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3473 ESRRB is_implicated_in DOID:0110493 autosomal recessive nonsyndromic deafness 35 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1437 CALCA is_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20959432 20111213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:360 AIRE is_implicated_in DOID:0050167 autoimmune polyendocrine syndrome type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18984 BMAL2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17728404 20091112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:12399 pathological gambling ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24390676 20231231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:263 ADORA2A is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15257174 20070605 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16496 ACSL6 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10502316 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21304 ADPRS is_implicated_in DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1786 CDKN1C is_implicated_in DOID:0050885 IMAGe syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28163 CCDC28B is_implicated_in DOID:0110123 Bardet-Biedl syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28811712 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1149 BUB1B is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:379 AKAP9 is_implicated_in DOID:0110652 long QT syndrome 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1709 CD9 is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17406028 20100629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22402147 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:932 BAAT is_implicated_in DOID:0014667 disease of metabolism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12704386 20070202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10814723 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20505556 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18317464 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15386212 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2974 DNM2 is_implicated_in DOID:0060558 lethal congenital contracture syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30858 EFTUD2 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34436958 20230104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29239247 20190516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27892677 20190516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17063508 20190516 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1539 CBFB is_implicated_in DOID:0081082 acute myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8351518 20070207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25007187 20160520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24404132 20160520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17135764 20101111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16855620 20090518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21741444 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:11612 polycystic ovary syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21282199 20130830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX is_implicated_in DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18173 ERAP1 is_implicated_in DOID:2893 cervix carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19202550 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 is_implicated_in DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200318 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:443 ALS2 is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11586297 20070116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:174 ACVR2B is_implicated_in DOID:0050545 visceral heterotaxy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2973 DNM1L is_implicated_in DOID:0111438 optic atrophy 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2731 DDR2 is_implicated_in DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25240 ANO6 is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23308121 20141209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23161 ALG8 is_implicated_in DOID:0050770 polycystic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:89 ACADM is_implicated_in DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:2055 post-traumatic stress disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23319005 20150813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24036 APC2 is_implicated_in DOID:0112104 Sotos syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10561 ATXN8OS is_implicated_in DOID:0050959 spinocerebellar ataxia type 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:251 ADH1C is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19068087 20100528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11937 CD70 is_implicated_in DOID:0060704 lymphoproliferative syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26185 CCDC134 is_implicated_in DOID:12347 osteogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8899655 20170503 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A is_implicated_in DOID:0070037 autosomal dominant intellectual developmental disorder 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_not_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19038326 20140529 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_implicated_in DOID:0050671 female breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30303537 20220609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14188 AVIL is_implicated_in DOID:0112267 nephrotic syndrome type 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191030 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:800 ATP1A2 is_implicated_in DOID:0070384 developmental and epileptic encephalopathy 98 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2615 CYP2B6 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21862974 20210218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2615 CYP2B6 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18281305 20210218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3057 DTNA is_implicated_in DOID:0050700 cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11238270 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16752225 20131220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24464 CHST14 is_implicated_in DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26373698 20221118 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24464 CHST14 is_implicated_in DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20004762 20221118 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24464 CHST14 is_implicated_in DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221118 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13533 ATP8A2 is_implicated_in DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3393 EPHB2 is_implicated_in DOID:2218 blood platelet disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_implicated_in DOID:3347 osteosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231004 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 is_implicated_in DOID:10772 thrombotic thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18031293 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 is_implicated_in DOID:10772 thrombotic thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1366 ADAMTS13 is_implicated_in DOID:10772 thrombotic thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11586351 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:408 ALDH5A1 is_implicated_in DOID:0060175 succinic semialdehyde dehydrogenase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22280835 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17444275 20070518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_implicated_in DOID:3068 glioblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22481252 20180718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:10933 obsessive-compulsive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11840516 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16512 BSND is_implicated_in DOID:445 Bartter disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11687798 20070319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:0111805 syndromic microphthalmia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17085 EXOC6B is_implicated_in DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190515 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24338 C1GALT1C1 is_implicated_in DOID:12554 hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230830 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3118 E2F4 is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2084 CLPP is_implicated_in DOID:0050857 Perrault syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1966 CHRNE is_implicated_in DOID:0110678 congenital myasthenic syndrome 4A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 is_implicated_in DOID:0070229 intrahepatic cholestasis of pregnancy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:492 ANK1 is_implicated_in DOID:12971 hereditary spherocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8640229 20160616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:492 ANK1 is_implicated_in DOID:12971 hereditary spherocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9054656 20160616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20661084 20171004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17285546 20171004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_implicated_in DOID:14067 Plasmodium falciparum malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10471063 20210318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:663 ARG1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20124949 20110329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:631 fibromyalgia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24762091 20171114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2394 CRYBA1 is_implicated_in DOID:0110258 cataract 10 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2962 DYNC2H1 is_implicated_in DOID:0110087 asphyxiating thoracic dystrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28648 DIS3L2 is_implicated_in DOID:2154 nephroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22306653 20161107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1029 BDKRB1 is_not_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10809796 20130311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_not_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20141440 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18233 BANK1 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18204447 20141212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:1496 echinococcosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2142987 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:969 BBS4 is_implicated_in DOID:11981 morbid obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17003356 20070416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:694 ARL3 is_implicated_in DOID:0112140 retinitis pigmentosa 83 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_implicated_in DOID:12308 Dubin-Johnson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10053008 20210916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_implicated_in DOID:12308 Dubin-Johnson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_implicated_in DOID:12308 Dubin-Johnson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9425227 20210916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19335954 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2158 CNP is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16389193 20120518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2158 CNP is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16891421 20120518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13552 ATP11A is_implicated_in DOID:0070406 hypomyelinating leukodystrophy 24 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16038259 20090630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 is_implicated_in DOID:0110339 osteogenesis imperfecta type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_not_implicated_in DOID:0110019 age related macular degeneration 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19899988 20131118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:714 ARSB is_implicated_in DOID:12800 mucopolysaccharidosis VI ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1550123 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:714 ARSB is_implicated_in DOID:12800 mucopolysaccharidosis VI ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:31088 ALG10B is_implicated_in DOID:0110645 long QT syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18622 COG7 is_implicated_in DOID:0070257 congenital disorder of glycosylation type IIe ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2159 CNR1 is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17292652 20070801 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1471 CAMLG is_implicated_in DOID:0050571 congenital disorder of glycosylation type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:837 ATP5F1D is_implicated_in DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:619 APOL2 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:559 acute pyelonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22325052 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2719 DDC is_implicated_in DOID:0090123 aromatic L-amino acid decarboxylase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2202 COL4A1 is_implicated_in DOID:0090125 brain small vessel disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1041 BFSP2 is_implicated_in DOID:0110239 cataract 12 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2203 COL4A2 is_implicated_in DOID:13223 uterine fibroid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22012848 20120207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2637 CYP3A4 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15180491 20120111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_not_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22000673 20130905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1785 CDKN1B is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9171997 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:735 ASAH1 is_implicated_in DOID:0050464 Farber lipogranulomatosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:824 periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15491310 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_implicated_in DOID:3265 chronic granulomatous disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2243141 20160310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_implicated_in DOID:3265 chronic granulomatous disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1415254 20160310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_implicated_in DOID:3265 chronic granulomatous disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10759707 20160310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:0112158 De Sanctis-Cacchione syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20233 COQ6 is_implicated_in DOID:0070243 primary coenzyme Q10 deficiency 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3531 F13A1 is_implicated_in DOID:0111907 thrombophilia due to thrombin defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200729 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20473910 20110916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10739169 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15088300 20140429 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1404 CACNB4 is_implicated_in DOID:0111323 idiopathic generalized epilepsy 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:11212 hydrophthalmos ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9097971 20070213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10555 ATXN2 is_implicated_in DOID:0060892 late onset Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:843 ATP5MC3 is_implicated_in DOID:0070445 early-onset dystonia and/or spastic paraplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:348 AHR is_implicated_in DOID:0112142 retinitis pigmentosa 85 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18619 COG3 is_implicated_in DOID:0050571 congenital disorder of glycosylation type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231025 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:2224 essential thrombocythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25860380 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:2224 essential thrombocythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24496303 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:2224 essential thrombocythemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:897 AVPR2 is_implicated_in DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:1579 respiratory system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14593914 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18621 COG6 is_implicated_in DOID:0070264 congenital disorder of glycosylation type IIl ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19338 CDK19 is_implicated_in DOID:0112221 developmental and epileptic encephalopathy 87 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28378643 20220209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25091576 20220209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 is_implicated_in DOID:0111869 photosensitive trichothiodystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 is_implicated_in DOID:0111869 photosensitive trichothiodystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9012405 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15939044 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:609 APOC2 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10335523 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1971 CHST3 is_implicated_in DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19622768 20131118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29186 ANKRD26 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29186 ANKRD26 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21467542 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15863205 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_implicated_in DOID:769 neuroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23202128 20171012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:289 endometriosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16500359 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3436 ERCC4 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18544627 20100322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2519 CTPS1 is_implicated_in DOID:0111938 immunodeficiency 24 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13907 ATOH7 is_implicated_in DOID:0060282 persistent hyperplastic primary vitreous ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1068 BMP15 is_implicated_in DOID:5426 primary ovarian insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16508750 20070206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:37276 CRPPA is_implicated_in DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180808 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23828384 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:634 AQP2 is_implicated_in DOID:0081061 nephrogenic diabetes insipidus type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210630 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2596 CYP1A2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18497059 20080923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1938 CHKB is_implicated_in DOID:8619 recurrent hypersomnia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19404393 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1663 CD36 is_implicated_in DOID:2218 blood platelet disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11950861 20070321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_not_implicated_in DOID:4971 myelofibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23716550 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15958648 20170725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15721279 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1105 BRDT is_implicated_in DOID:0070163 spermatogenic failure 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:719 ARSL is_implicated_in DOID:2581 chondrodysplasia punctata ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9409863 20070122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3226 EFNB1 is_implicated_in DOID:1934 dysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15124102 20070215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19191 DOCK8 is_implicated_in DOID:934 viral infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25724123 20201203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13723 CTCF is_implicated_in DOID:0070051 autosomal dominant intellectual developmental disorder 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11200774 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3052 DSP is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11063735 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20430255 20110112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_implicated_in DOID:0050636 familial visceral amyloidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3049 DSG2 is_implicated_in DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16171 CHMP4B is_implicated_in DOID:0110265 cataract 31 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26182 COLGALT1 is_implicated_in DOID:0112315 brain small vessel disease 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190911 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3595 FAT1 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28435450 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21056 ERMARD is_implicated_in DOID:0050454 periventricular nodular heterotopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:4033 bacterial gastritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31522447 20210123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16754522 20110321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A is_implicated_in DOID:0111196 X-linked distal spinal muscular atrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20170900 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A is_implicated_in DOID:0111196 X-linked distal spinal muscular atrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24725 FAM111A is_implicated_in DOID:0080723 Kenny-Caffey syndrome type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20707291 20101019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:12185 otosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17489845 20140423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26724 ANKS6 is_implicated_in DOID:0111124 nephronophthisis 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1051 BIK is_implicated_in DOID:12704 ataxia telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19898928 20190401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1929 CHGA is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21061160 20121019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20687374 20180228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2212 COL6A2 is_implicated_in DOID:0050663 Bethlem myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2212 COL6A2 is_implicated_in DOID:0050663 Bethlem myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8782832 20190327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:13564 aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22114731 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17534875 20160519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2531 CTSF is_implicated_in DOID:0110727 neuronal ceroid lipofuscinosis 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:358 AIP is_implicated_in DOID:0112009 pituitary adenoma 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200826 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10862638 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18478337 20170725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:33848 COA5 is_implicated_in DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23168 FANCM is_implicated_in DOID:0111916 spermatogenic failure 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25567 ATAD3A is_implicated_in DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200819 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_implicated_in DOID:0050742 nicotine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17654295 20231121 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2097 CMA1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15248847 20070606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18561 BLOC1S5 is_implicated_in DOID:3753 Hermansky-Pudlak syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210203 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_implicated_in DOID:635 acquired immunodeficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17530998 20201025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:2582 acatalasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20118908 20140417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3556 FABP2 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15059615 20070807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:970 BBS5 is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15137946 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17978 B3GALT6 is_implicated_in DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200826 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:0111062 familial hypobetalipoproteinemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17067435 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:0111322 idiopathic generalized epilepsy 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24452036 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_implicated_in DOID:1558 angioedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16638441 20070406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16406 EFHC1 is_implicated_in DOID:0111324 juvenile absence epilepsy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190904 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:0111460 cardiofaciocutaneous syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191106 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:896 AVPR1B is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24012103 20190808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16444766 20090911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17727676 20090911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1161 CEP55 is_implicated_in DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25568 FANCI is_implicated_in DOID:0111091 Fanconi anemia complementation group I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17452773 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25568 FANCI is_implicated_in DOID:0111091 Fanconi anemia complementation group I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 is_implicated_in DOID:13809 familial combined hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11775124 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1938 CHKB is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21665002 20120521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20893 BCOR is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33145269 20210830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3436 ERCC4 is_implicated_in DOID:0060590 XFE progeroid syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25631 CFAP44 is_implicated_in DOID:0070166 spermatogenic failure 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:11702 dysgammaglobulinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7678782 20070206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18683 EIF4A3 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23376982 20150610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14258 CD2AP is_implicated_in DOID:1312 focal segmental glomerulosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12764198 20070321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:1555 urticaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23727176 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21926398 20210412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3296 EIF4G1 is_implicated_in DOID:0060892 late onset Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16785856 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10558867 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21390047 20170508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1980 CILP is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15334463 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2323 CPS1 is_implicated_in DOID:178 vascular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14718356 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:11396 pulmonary edema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20546540 20101020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6026 CXCR1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:857 ATP6V1E1 is_implicated_in DOID:0070140 autosomal recessive cutis laxa type IIC ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:0080001 bone disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19657367 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17938 CALY is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16172615 20200106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 is_implicated_in DOID:13129 severe pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24619222 20231025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24583 DOK3 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10400139 20091001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16785856 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2037 CLDN16 is_implicated_in DOID:0060880 renal hypomagnesemia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180228 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26532 DNHD1 is_implicated_in DOID:0112354 spermatogenic failure 65 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:2237 hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32379894 20200709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18843019 20091026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_implicated_in DOID:0080940 hereditary angioedema type III ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15505619 20061204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14637 ABCA12 is_implicated_in DOID:0060712 autosomal recessive congenital ichthyosis 4A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26158 ELMOD3 is_implicated_in DOID:0110533 autosomal recessive nonsyndromic deafness 88 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:13636 Fanconi anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1393 CACNA1F is_implicated_in DOID:0050534 congenital stationary night blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12111638 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19000152 20090708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2027 CLCNKB is_implicated_in DOID:0110146 Bartter disease type 4b ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2942 DNAH11 is_implicated_in DOID:0050144 Kartagener syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12142464 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21022 AARS2 is_implicated_in DOID:0070396 progressive leukoencephalopathy with ovarian failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2418 CRYM is_implicated_in DOID:0110566 autosomal dominant nonsyndromic deafness 40 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21538054 20170905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11030411 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20893 BCOR is_implicated_in DOID:216 dental caries ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23470693 20221028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12880680 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_implicated_in DOID:1799 islet cell tumor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21252315 20141021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16008680 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_not_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16572609 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2023 CLCN5 is_implicated_in DOID:0050699 Dent disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16420563 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1777 CDK6 is_implicated_in DOID:0070284 primary autosomal recessive microcephaly 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 is_implicated_in DOID:9620 vesicoureteral reflux ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15470205 20121004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22645426 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_implicated_in DOID:13189 gout ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19506252 20181003 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_implicated_in DOID:13189 gout ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181003 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2201 COL3A1 is_implicated_in DOID:14757 Ehlers-Danlos syndrome hypermobility type ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7833919 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17601 CADM3 is_implicated_in DOID:10595 Charcot-Marie-Tooth disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210929 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2917 DLX4 is_implicated_in DOID:0080408 orofacial cleft 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:0050848 obstructive sleep apnea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18580062 20101022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28526 EOGT is_implicated_in DOID:0060227 Adams-Oliver syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1957 CHRNA3 is_implicated_in DOID:3905 lung carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24337855 20220126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2348 CREBBP is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25917266 20160419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11411 CDKL5 is_implicated_in DOID:11832 visual epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22264704 20170227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25851350 20190513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21144 DSE is_implicated_in DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1067 BMP1 is_implicated_in DOID:0110342 osteogenesis imperfecta type 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12855221 20070321 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2590 CYP11A1 is_implicated_in DOID:0050546 congenital adrenal insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:0050432 Asperger syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18317464 20111108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25903 ATAD1 is_implicated_in DOID:0080581 hyperekplexia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17220293 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3192 EEF1A2 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12053177 20090212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19194560 20121003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:13365 reading disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21165691 20171108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1976 CIDEA is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16186410 20070606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:0080404 orofacial cleft 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:851 ATP6V1A is_implicated_in DOID:0112275 developmental and epileptic encephalopathy 93 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:1749 squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19622768 20131118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15478 ADAM33 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18778489 20101102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15478 ADAM33 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15298558 20101102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2185 COL10A1 is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8004099 20070329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17641 DCLRE1B is_implicated_in DOID:2729 dyskeratosis congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:0060244 specific language impairment ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18987363 20171108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_not_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21926398 20210413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3522 EYA4 is_implicated_in DOID:0110440 dilated cardiomyopathy 1J ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2745 DDX3X is_implicated_in DOID:0060309 syndromic X-linked intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_not_implicated_in DOID:987 alopecia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22509838 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1502 CASP14 is_implicated_in DOID:0060655 autosomal recessive congenital ichthyosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:637 AQP4 is_implicated_in DOID:9849 Meniere's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21063116 20140811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2770 DES is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29212896 20180507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2510 CTNNA2 is_implicated_in DOID:0090131 complex cortical dysplasia with other brain malformations ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19088 ASH1L is_implicated_in DOID:0080231 autosomal dominant intellectual developmental disorder 52 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7877 CNOT1 is_implicated_in DOID:0081397 Vissers-Bodmer syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15034868 20140506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20846920 20140506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3584 FANCC is_implicated_in DOID:0080822 aspirin-induced respiratory disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21670957 20160404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14709372 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:0050127 sinusitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11773581 20100831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8740 CHMP1A is_implicated_in DOID:0060277 pontocerebellar hypoplasia type 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:8924 autoimmune thrombocytopenic purpura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23000068 20141107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2203 COL4A2 is_implicated_in DOID:1936 atherosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28642624 20171113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12029499 20140807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:438 ALPL is_implicated_in DOID:0110914 infantile hypophosphatasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15872 CFAP61 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230607 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3483 ETFDH is_implicated_in DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16512 BSND is_implicated_in DOID:0110145 Bartter disease type 4a ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:8768 AIFM1 is_implicated_in DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1951 CHRM2 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20691427 20111028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25443 C19orf12 is_implicated_in DOID:0110738 neurodegeneration with brain iron accumulation 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6211 ANOS1 is_implicated_in DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180822 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26715268 20220208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:9111 cutaneous leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25562121 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16053 CFAP52 is_implicated_in DOID:0050545 visceral heterotaxy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:188 ADAM10 is_implicated_in DOID:0110050 Alzheimer's disease 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26574 CCDC17 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12975417 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:581 APBB1 is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11099823 20150722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:492 ANK1 is_implicated_in DOID:0110916 hereditary spherocytosis type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:362 AK2 is_implicated_in DOID:0060020 reticular dysgenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19043416 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:362 AK2 is_implicated_in DOID:0060020 reticular dysgenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:0070085 schizophrenia 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2158 CNP is_implicated_in DOID:0112153 hypomyelinating leukodystrophy 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_not_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17462671 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:1826 epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12686700 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2312 CPN1 is_implicated_in DOID:0111583 carboxypeptidase N deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:939 BAG3 is_implicated_in DOID:0110448 dilated cardiomyopathy 1HH ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20213 COX16 is_implicated_in DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210616 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17748 DACT1 is_implicated_in DOID:0050887 Townes-Brocks syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2389 CRYAB is_implicated_in DOID:0110250 cataract 16 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2343 CRB1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10508521 20140425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2343 CRB1 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20956273 20140425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10623 CCL24 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15580493 20110414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4268 CBLIF is_implicated_in DOID:0050734 congenital intrinsic factor deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14695536 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4268 CBLIF is_implicated_in DOID:0050734 congenital intrinsic factor deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25239 ARSK is_implicated_in DOID:12798 mucopolysaccharidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_implicated_in DOID:4989 pancreatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16614115 20100409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2895 EDAR is_implicated_in DOID:0111665 ectodermal dysplasia 10B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:1555 urticaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18159608 20140306 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_not_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7729604 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16926542 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2295 CP is_implicated_in DOID:1826 epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7914452 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23537 DHTKD1 is_implicated_in DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_not_implicated_in DOID:13809 familial combined hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9812922 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:127 leiomyoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16443508 20080211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:387 AKR1C4 is_implicated_in DOID:0111773 46,XY sex reversal 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2195 COL18A1 is_implicated_in DOID:1405 primary angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200715 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14872 ASPN is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20144272 20141211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18834717 20090724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1077 BMPR1B is_implicated_in DOID:0081237 acromesomelic dysplasia-3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24245 DRC1 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230215 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:161 keratosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14580687 20140827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11922 CD27 is_implicated_in DOID:0060708 lymphoproliferative syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23246699 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_implicated_in DOID:234 colon adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9020077 20070202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:0080345 blepharocheilodontic syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20732370 20110217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:0111089 Fanconi anemia complementation group D1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230927 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:0080914 cerebrooculofacioskeletal syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10549 ATXN10 is_implicated_in DOID:0050960 spinocerebellar ataxia type 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2023 CLCN5 is_implicated_in DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:5394 CFI is_not_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23900096 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_implicated_in DOID:1040 chronic lymphocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10753858 20220311 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3052 DSP is_implicated_in DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3261 EIF2B5 is_implicated_in DOID:0060868 leukoencephalopathy with vanishing white matter ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11704758 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2417 CRYGS is_implicated_in DOID:0110240 cataract 20 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:0111137 congenital generalized lipodystrophy type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_implicated_in DOID:0111504 Li-Fraumeni syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231004 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_not_implicated_in DOID:13544 low tension glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23743525 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17198 CHSY1 is_implicated_in DOID:0050814 temtamy preaxial brachydactyly syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1044 BGN is_implicated_in DOID:0112150 X-linked spondyloepimetaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21219 CILK1 is_implicated_in DOID:0111325 juvenile myoclonic epilepsy 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB is_implicated_in DOID:0050600 ABCD syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:1407 anterior uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16950632 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:1407 anterior uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16280979 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:3969 thyroid gland papillary carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22702340 20161205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_not_implicated_in DOID:1407 anterior uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22714898 20131118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2211 COL6A1 is_implicated_in DOID:0050663 Bethlem myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2211 COL6A1 is_implicated_in DOID:0050663 Bethlem myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8782832 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:9008 psoriatic arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15124938 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26625757 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19896112 20171108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12133586 20150701 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:0060488 Pitt-Hopkins syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19896112 20171108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:8618 oral cavity cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17461521 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:145 ACTG2 is_implicated_in DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210728 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3431 ERBB3 is_implicated_in DOID:0060560 lethal congenital contracture syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13916 APOM is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19007767 20091106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2398 CRYBB2 is_implicated_in DOID:0110269 cataract 3 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2340 CRADD is_implicated_in DOID:0081200 autosomal recessive intellectual developmental disorder 34 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2395 CRYBA2 is_implicated_in DOID:0110237 cataract 42 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2153 CNGB3 is_implicated_in DOID:13399 color blindness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10958649 20070328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1985 CIT is_implicated_in DOID:0070288 primary autosomal recessive microcephaly 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14770184 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17442289 20110211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19897513 20110412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25808 FAM161A is_implicated_in DOID:0110365 retinitis pigmentosa 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18008256 20101013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16664 CAPN14 is_implicated_in DOID:13922 eosinophilic esophagitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25407941 20160614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2186 COL11A1 is_implicated_in DOID:0111510 Marshall syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9529347 20231108 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2186 COL11A1 is_implicated_in DOID:0111510 Marshall syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231108 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:250 ADH1B is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231025 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21869 AGK is_implicated_in DOID:0080132 Sengers syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1678 CD4 is_implicated_in DOID:0112277 immunodeficiency 79 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1500 CASP10 is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25243787 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16501576 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:483 ANG is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22190368 20120814 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18003760 20090821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:14227 azoospermia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18616887 20170728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:34 ABCA4 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9295268 20061204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:0050902 medulloblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30000 BBS9 is_implicated_in DOID:5426 primary ovarian insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18349106 20141215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24415 BOLA3 is_implicated_in DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:2152 ovary epithelial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18640939 20170724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_implicated_in DOID:0080887 vitamin D-dependent rickets type 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16695 BCAP31 is_implicated_in DOID:0112123 deafness, dystonia, and cerebral hypomyelination ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1394 CACNA1G is_implicated_in DOID:0111742 cerebellar ataxia type 42 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9258285 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1848 CEL is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16369531 20091029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:281 ADRA2A is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16636200 20070528 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:0060240 UV-sensitive syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:11836 clubfoot ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21254355 20170106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2884 DIO2 is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17077128 20070807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11231 ATL1 is_implicated_in DOID:0110791 hereditary spastic paraplegia 3A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3091 DYRK1A is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25707398 20200519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2389 CRYAB is_implicated_in DOID:0080093 myofibrillar myopathy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:566 AP3B1 is_implicated_in DOID:0060540 Hermansky-Pudlak syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:2378 relapsing-remitting multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15218339 20170511 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13666 AAAS is_implicated_in DOID:9164 achalasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16098009 20061201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29298 CEP152 is_implicated_in DOID:0070292 primary autosomal recessive microcephaly 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:0080162 lupus nephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22513366 20120709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:11396 pulmonary edema ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21393362 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21723677 20240112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_not_implicated_in DOID:1727 retinal vein occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10634550 20131104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:34 ABCA4 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18024811 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:34 ABCA4 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9466990 20140122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30723 CCDC62 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15735318 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_implicated_in DOID:2945 severe acute respiratory syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19258635 20110113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17098 DICER1 is_implicated_in DOID:0081063 DICER1 syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220406 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1375 CA4 is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15090652 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:0080908 Cockayne syndrome B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20207 B3GLCT is_implicated_in DOID:0080201 Peters plus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11411 CDKL5 is_implicated_in DOID:1206 Rett syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23242510 20170227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:572 AP4B1 is_implicated_in DOID:0110799 hereditary spastic paraplegia 47 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 is_implicated_in DOID:14080 glucocorticoid-remediable aldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21862 DYNC2I1 is_implicated_in DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2766 DEFB1 is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16700921 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:552 pneumonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:4375858 20201013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15469 DNAJC6 is_implicated_in DOID:0060891 Parkinson's disease 19A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9964 DPF2 is_implicated_in DOID:0112369 Coffin-Siris syndrome 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:603 APOB is_implicated_in DOID:4606 bile duct cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18296645 20100609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:11612 polycystic ovary syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18339256 20170106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16061119 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3556 FABP2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15620432 20070806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3556 FABP2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14981227 20070806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14561 ARHGEF9 is_implicated_in DOID:0080215 developmental and epileptic encephalopathy 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20118908 20140417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24229 CIDEC is_implicated_in DOID:0070203 familial partial lipodystrophy type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26019 BPNT2 is_implicated_in DOID:0112224 chondrodysplasia with joint dislocations gPAPP type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21415852 20160322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22066015 20160322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2027 CLCNKB is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15148291 20070322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20748 FANCL is_implicated_in DOID:0111082 Fanconi anemia complementation group L ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2593 CYP17A1 is_implicated_in DOID:10211 cholelithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16381022 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2529 CTSD is_implicated_in DOID:0110725 neuronal ceroid lipofuscinosis 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2482 CSTB is_implicated_in DOID:3535 Unverricht-Lundborg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191113 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2291 COX7B is_implicated_in DOID:0111877 linear skin defects with multiple congenital anomalies 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4512 ADGRG1 is_implicated_in DOID:0080922 bilateral frontoparietal polymicrogyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_implicated_in DOID:5810 adenosine deaminase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1645 CD24 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14657362 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1961 CHRNB1 is_implicated_in DOID:0110680 congenital myasthenic syndrome 2C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180822 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:816 ATP2B3 is_implicated_in DOID:0111829 X-linked spinocerebellar ataxia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3192 EEF1A2 is_implicated_in DOID:0070068 autosomal dominant intellectual developmental disorder 38 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3418 EPRS1 is_implicated_in DOID:0070398 hypomyelinating leukodystrophy 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3436 ERCC4 is_implicated_in DOID:0111093 Fanconi anemia complementation group Q ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_not_implicated_in DOID:409 liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17950035 20110211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:175 ACVRL1 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20056902 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:175 ACVRL1 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14684682 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_implicated_in DOID:5812 MHC class II deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11466404 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_implicated_in DOID:5812 MHC class II deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9099848 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_implicated_in DOID:5812 MHC class II deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2528 CTSC is_implicated_in DOID:1474 aggressive periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1722 CDK1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19377877 20100702 RGD NCBITaxon:9606 Homo sapiens gene HGNC:612 APOD is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7895459 20090629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20202 CACNA2D4 is_implicated_in DOID:0081023 retinal cone dystrophy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2410 CRYGC is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10521291 20070403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:0050440 familial partial lipodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2701 DCC is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:494 ANK3 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21893642 20220829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2615 CYP2B6 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19144407 20120323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:989 BCL10 is_implicated_in DOID:1790 malignant mesothelioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23908149 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24386361 20211222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:9655 oral mucosa leukoplakia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17290401 20140425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1464 CAMK4 is_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19001277 20231215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:74 ABCG2 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15906349 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:8618 oral cavity cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16721740 20190830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17706090 20131219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30237 CC2D1A is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22023432 20160926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12703 BEST1 is_implicated_in DOID:0050662 bestrophinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11510748 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21523342 20111021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16949155 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1967 CHRNG is_implicated_in DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2961 DYNC1H1 is_implicated_in DOID:0070043 autosomal dominant intellectual developmental disorder 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2217 COL9A1 is_implicated_in DOID:0070301 multiple epiphyseal dysplasia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15741437 20101015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:122 ACP1 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12231445 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1020 BCS1L is_implicated_in DOID:0050677 Bjornstad syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25230 AHDC1 is_implicated_in DOID:0070055 Xia-Gibbs Syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_implicated_in DOID:10754 otitis media ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24718616 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3219 EFEMP2 is_implicated_in DOID:0070133 autosomal recessive cutis laxa type IB ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24160 BEAN1 is_implicated_in DOID:0050980 spinocerebellar ataxia type 31 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2205 CERT1 is_implicated_in DOID:0070064 autosomal dominant intellectual developmental disorder 34 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:999 hypereosinophilic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15026880 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:576 proteinuria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10193250 20160229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:535 ANXA11 is_implicated_in DOID:0081121 inclusion body myopathy and brain white matter abnormalities ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220323 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A is_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24108129 20150805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:0090107 autosomal dominant hypocalcemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:6958349 20160322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17432 CHIA is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16179638 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_implicated_in DOID:6846 familial melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190410 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18248 ELP2 is_implicated_in DOID:0081220 autosomal recessive intellectual developmental disorder 58 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1500 CASP10 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17342 BRWD3 is_implicated_in DOID:0112045 non-syndromic X-linked intellectual disability 93 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:12377 spinal muscular atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10400640 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1750 CDH11 is_implicated_in DOID:0081074 Teebi hypertelorism syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220413 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:461 AMELX is_implicated_in DOID:2187 amelogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8406474 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1542 CBLB is_not_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29707316 20210518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2719 DDC is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12555230 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21638 CEP85L is_implicated_in DOID:0112229 lissencephaly 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200527 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2187 COL11A2 is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22112025 20170518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2187 COL11A2 is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20672350 20170518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_not_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17285546 20171004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25243787 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1529 CAV3 is_implicated_in DOID:0111338 isolated elevated serum creatine phosphokinase levels ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23247 DNAL1 is_implicated_in DOID:0110613 primary ciliary dyskinesia 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23015 FAM20A is_implicated_in DOID:0110066 amelogenesis imperfecta type 1G ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:575 AP4S1 is_implicated_in DOID:0110804 hereditary spastic paraplegia 52 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21035 ARHGAP18 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19065146 20120126 RGD NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12200370 20100408 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:3304 germinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19289622 20100114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2219 COL9A3 is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10090888 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3415 EPO is_implicated_in DOID:11713 diabetic angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2638 CYP3A5 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19584153 20160722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2638 CYP3A5 is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21039054 20160722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8864 CFP is_implicated_in DOID:0111768 X-linked properdin deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10922411 20140422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 is_implicated_in DOID:9993 hypoglycemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18328310 20090930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14899 ADAMTS14 is_implicated_in DOID:0050784 primary progressive multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15913795 20120717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9722 ALDH18A1 is_implicated_in DOID:0110824 hereditary spastic paraplegia 9A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9722 ALDH18A1 is_implicated_in DOID:0110824 hereditary spastic paraplegia 9A ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26297558 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19687 EIF2AK4 is_implicated_in DOID:0081269 pulmonary venoocclusive disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17223345 20090526 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20560294 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11438180 20150123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18294 ALG1 is_implicated_in DOID:0080563 congenital disorder of glycosylation Ik ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:12678 hypercalcemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20602573 20130108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230125 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:143 ACTC1 is_implicated_in DOID:0110110 atrial heart septal defect 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:988 mitral valve prolapse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17379330 20170927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B is_implicated_in DOID:769 neuroblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23202128 20171012 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17451 CYSLTR1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16776674 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17451 CYSLTR1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16771777 20101124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_implicated_in DOID:0060210 amyotrophic lateral sclerosis type 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25302 COQ9 is_implicated_in DOID:0070242 primary coenzyme Q10 deficiency 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18571008 20100414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2252 CORO1A is_implicated_in DOID:0060019 coronin-1A deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10630 CCL4 is_implicated_in DOID:635 acquired immunodeficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16773571 20111205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29253 CC2D2A is_implicated_in DOID:0070120 Meckel syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3588 FANCG is_implicated_in DOID:0111086 Fanconi anemia complementation group G ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:122 ACP1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15586390 20090911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:122 ACP1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11912546 20090911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2623 CYP2C9 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19954746 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:0060903 thrombosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21070754 20120912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1388 CACNA1A is_implicated_in DOID:0080454 developmental and epileptic encephalopathy 42 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17065136 20160613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15830139 20131213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:678 ARHGDIA is_implicated_in DOID:0080389 nephrotic syndrome type 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14082 ANLN is_implicated_in DOID:0111133 focal segmental glomerulosclerosis 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13652 BDP1 is_implicated_in DOID:0111637 autosomal recessive nonsyndromic deafness 112 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1260 CFAP410 is_implicated_in DOID:0112299 axial spondylometaphyseal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200506 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21014 ANTXR1 is_implicated_in DOID:0112249 GAPO syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23602711 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21014 ANTXR1 is_implicated_in DOID:0112249 GAPO syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18772397 20140725 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231122 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1041 BFSP2 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10729115 20070312 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13625 CACNG6 is_implicated_in DOID:0080822 aspirin-induced respiratory disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20860846 20180420 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13221 BCL11A is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25938782 20160609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_implicated_in DOID:12206 dengue hemorrhagic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15838506 20210215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1641 CD209 is_implicated_in DOID:12206 dengue hemorrhagic fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21245921 20210215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2217 COL9A1 is_implicated_in DOID:0080046 Stickler syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 is_implicated_in DOID:0050644 arterial calcification of infancy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15598761 20170505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5959 ELP1 is_implicated_in DOID:0060249 scoliosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11097445 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17666363 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:5614 eye disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19430638 20140609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:285 ADRB1 is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14502278 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30539 DNAAF1 is_implicated_in DOID:0110618 primary ciliary dyskinesia 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17182750 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:0080301 atypical hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20513133 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3344 ENAM is_implicated_in DOID:0110052 amelogenesis imperfecta type 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11487571 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3344 ENAM is_implicated_in DOID:0110052 amelogenesis imperfecta type 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24355 CLEC1A is_implicated_in DOID:13564 aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14341 EDARADD is_implicated_in DOID:0111654 ectodermal dysplasia 11B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28422712 20231205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17502834 20101025 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18287863 20100319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18990008 20100319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21317 DYM is_implicated_in DOID:0081270 Smith-McCort dysplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221123 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3052 DSP is_implicated_in DOID:0081109 keratosis palmoplantaris striata 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1477 CAPN10 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16752174 20070517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22957075 20190826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:0050671 female breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30303537 20220609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:341 AGXT is_implicated_in DOID:0111670 primary hyperoxaluria type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9722 ALDH18A1 is_implicated_in DOID:0110825 hereditary spastic paraplegia 9B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:13550 angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23961996 20140825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1604 CCR3 is_implicated_in DOID:2152 ovary epithelial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20103664 20120828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_not_implicated_in DOID:10892 hypospadias ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21300689 20170106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2217 COL9A1 is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11565064 20070402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2277 COX6A1 is_implicated_in DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0080045 Kniest dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15563966 20090626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21430300 20111027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15131548 20161116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_not_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9270088 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 is_implicated_in DOID:0070223 progressive familial intrahepatic cholestasis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:11077 brucellosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24076593 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30858 EFTUD2 is_implicated_in DOID:10907 microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24470203 20230104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1774 CDK5 is_implicated_in DOID:0112231 lissencephaly 7 with cerebellar hypoplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13733 CDH23 is_implicated_in DOID:0112008 pituitary adenoma 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29932 COASY is_implicated_in DOID:12801 mucopolysaccharidosis III ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11153910 20070830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15469 DNAJC6 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25639775 20160115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17497175 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3587 FANCF is_implicated_in DOID:0111088 Fanconi anemia complementation group F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2940 DNAH1 is_implicated_in DOID:0080266 primary ciliary dyskinesia 37 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23215636 20150813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18780967 20150813 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11668616 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2047 CLDN5 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15363474 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2077 CLN6 is_implicated_in DOID:0110730 neuronal ceroid lipofuscinosis 6B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180314 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17164796 20070406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14637 ABCA12 is_implicated_in DOID:0060713 autosomal recessive congenital ichthyosis 4B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB is_implicated_in DOID:0110953 Waardenburg syndrome type 4A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17653045 20170124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18276201 20170124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3413 EPM2A is_implicated_in DOID:891 progressive myoclonus epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9771710 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15879 CTNNBL1 is_implicated_in DOID:11981 morbid obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19245693 20150401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24381110 20200508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1020 BCS1L is_implicated_in DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26684 CFAP43 is_implicated_in DOID:0070170 spermatogenic failure 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28093 BBIP1 is_implicated_in DOID:0110140 Bardet-Biedl syndrome 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2216 COL8A2 is_implicated_in DOID:11555 Fuchs' endothelial dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20305046 20111024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20961965 20111024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18274 CYSLTR2 is_implicated_in DOID:0080822 aspirin-induced respiratory disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15970796 20110727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:949 BAK1 is_implicated_in DOID:2893 cervix carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12771926 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R is_implicated_in DOID:0080188 chronic myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23774674 20160113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2433 CSF1R is_implicated_in DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26807327 20210413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2280 COX6B1 is_implicated_in DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2972 DNM1 is_implicated_in DOID:0080437 developmental and epileptic encephalopathy 31A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2472 CSRP3 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12642359 20061201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3049 DSG2 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18678517 20231020 RGD NCBITaxon:9606 Homo sapiens gene HGNC:118 ACO2 is_implicated_in DOID:0111442 optic atrophy 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2625 CYP2D6 is_not_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20684753 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1353 C8B is_implicated_in DOID:0060302 type II complement component 8 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16959794 20111107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13759 CYFIP1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20298200 20161107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:10325 silicosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12096683 20110401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9001427 20160114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24746896 20160114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23828384 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1455 CALR is_implicated_in DOID:2228 thrombocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26608331 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20634952 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1442 CALM1 is_implicated_in DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:437 ALPI is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29567797 20190213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2323 CPS1 is_implicated_in DOID:13042 persistent fetal circulation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11407344 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23228 CPAMD8 is_implicated_in DOID:0080613 anterior segment dysgenesis 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:5614 eye disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15077257 20131104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30343 DNAJC13 is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25701813 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:922 B3GAT2 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20950796 20190219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12460460 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11529 EPCAM is_implicated_in DOID:0060776 congenital diarrhea 5 with tufting enteropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1951 CHRM2 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19500151 20111028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3556 FABP2 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16919542 20070806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:395 ALAD is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11335187 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2210 COL5A2 is_implicated_in DOID:13359 Ehlers-Danlos syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9425231 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_implicated_in DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19771478 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14631 ADAMTSL2 is_implicated_in DOID:0111725 geleophysic dysplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:923 B3GAT3 is_implicated_in DOID:0080575 Larsen-like syndrome B3GAT3 type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180307 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6545 COG1 is_implicated_in DOID:0070259 congenital disorder of glycosylation type IIg ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17272 CENPJ is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16900296 20161010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30492 DNAAF3 is_implicated_in DOID:0110626 primary ciliary dyskinesia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23749772 20210521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1148 BUB1 is_implicated_in DOID:0070296 primary autosomal recessive microcephaly ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230104 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:612 APOD is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7913935 20090629 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29368 CFAP74 is_implicated_in DOID:9562 primary ciliary dyskinesia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24338 C1GALT1C1 is_implicated_in DOID:0080520 Tn polyagglutination syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:253 ADH5 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17543375 20110322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:253 ADH5 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19514054 20110322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_implicated_in DOID:0070158 hereditary sensory neuropathy type 1E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3214 EEF2 is_implicated_in DOID:0050975 spinocerebellar ataxia type 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:800 ATP1A2 is_implicated_in DOID:0050635 alternating hemiplegia of childhood ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13273 DUOX2 is_implicated_in DOID:0050328 congenital hypothyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12110737 20061219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_not_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24035255 20171114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24040 ADIPOR1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18451143 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:126 ACR is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230906 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10625 CCL26 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15580493 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:941 BAG5 is_implicated_in DOID:0081162 dilated cardiomyopathy 2F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27304910 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3331 EMD is_implicated_in DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15452244 20190424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2896 DLAT is_implicated_in DOID:3649 pyruvate decarboxylase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:6846 familial melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190410 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2216 COL8A2 is_implicated_in DOID:0110856 posterior polymorphous corneal dystrophy 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2602 CYP24A1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28362172 20220328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1875 CFL2 is_implicated_in DOID:0110934 nemaline myopathy 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23123147 20171108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10428310 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3706 ATP8B1 is_implicated_in DOID:0070228 intrahepatic cholestasis of pregnancy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:171 ACVR1 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33443061 20230425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1358 C9 is_implicated_in DOID:0060303 complement component 9 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:79 ABO is_implicated_in DOID:13406 pulmonary sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9036208 20110318 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16709 CALCRL is_implicated_in DOID:0050580 hereditary lymphedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:950 BAP1 is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25080371 20140925 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15472 ALDH1A2 is_implicated_in DOID:3827 congenital diaphragmatic hernia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220921 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:0111150 autosomal dominant isolated ectopia lentis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1919 CHD4 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25407497 20220812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R is_implicated_in DOID:0050590 severe congenital neutropenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16985178 20160114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11110 ARID1A is_implicated_in DOID:0070044 Coffin-Siris syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:5327 retinal detachment ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18515590 20190228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19714 DDHD1 is_implicated_in DOID:0110779 hereditary spastic paraplegia 28 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:160 ACTL6B is_implicated_in DOID:0112212 developmental and epileptic encephalopathy 76 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190731 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15034225 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:132 ACTB is_implicated_in DOID:0081112 Baraitser-Winter syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18094435 20080221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28642860 20210831 RGD NCBITaxon:9606 Homo sapiens gene HGNC:428 ALMS1 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16601972 20140808 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3512 EXT1 is_implicated_in DOID:3371 chondrosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_implicated_in DOID:0060591 WHIM syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2561 CXCR4 is_implicated_in DOID:0060591 WHIM syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12692554 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:119 ACOX1 is_implicated_in DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2909 DLL3 is_implicated_in DOID:0112365 spondylocostal dysostosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180704 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26222 FAR1 is_implicated_in DOID:0081243 rhizomelic chondrodysplasia punctate type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200603 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14079 CHRNA9 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22280835 20220125 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:1561 cognitive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16542182 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:9452 steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14606109 20070731 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:0080550 Noonan syndrome with multiple lentigines 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11406608 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3261 EIF2B5 is_implicated_in DOID:0070367 leukoencephalopathy with vanishing white matter 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14886 DNAJB4 is_implicated_in DOID:0081353 congenital myopathy 21 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23338 ACBD5 is_implicated_in DOID:0080946 retinal dystrophy with leukodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200819 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18179895 20171108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14253 CERS1 is_implicated_in DOID:0111451 progressive myoclonus epilepsy 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1405 CACNG1 is_implicated_in DOID:8545 malignant hyperthermia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8395940 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:6713 cerebrovascular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17376122 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_implicated_in DOID:4248 coronary stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34262949 20231127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16107775 20090807 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2940 DNAH1 is_implicated_in DOID:0070165 spermatogenic failure 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX is_implicated_in DOID:0060806 syndromic X-linked intellectual disability Hedera type ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12177367 20161129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:172 ACVR1B is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22586632 20220324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:129 ACTA1 is_implicated_in DOID:0110927 nemaline myopathy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26114 EDC3 is_implicated_in DOID:0081213 autosomal recessive intellectual developmental disorder 50 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3072 DUSP6 is_implicated_in DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 is_implicated_in DOID:4362 cervical cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18503157 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 is_not_implicated_in DOID:9620 vesicoureteral reflux ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12187255 20121004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12089380 20100104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A is_implicated_in DOID:0111272 occipital horn syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9467005 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A is_implicated_in DOID:0111272 occipital horn syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:171 ACVR1 is_implicated_in DOID:13641 exfoliation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32641001 20230524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13552 ATP11A is_implicated_in DOID:0050564 autosomal dominant nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220615 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2873 CYB5R3 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25225034 20160310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_not_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15479493 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20044877 20201102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_not_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12770795 20091001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20862552 20210521 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1951 CHRM2 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19308904 20111028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1460 CAMK2A is_implicated_in DOID:0081224 autosomal recessive intellectual developmental disorder 63 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3287 EIF4E is_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3392 EPHB1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21603658 20220810 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26311051 20180705 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_not_implicated_in DOID:3008 invasive ductal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21909981 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15685 B4GAT1 is_implicated_in DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18381943 20100323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:2216 factor V deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11564077 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:2216 factor V deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_not_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24793015 20170728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3432 ERBB4 is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26824984 20210422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:607 APOC1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11825674 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19351 BICC1 is_implicated_in DOID:0111682 diffuse cystic renal dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200219 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:361 AK1 is_implicated_in DOID:583 hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10233365 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 is_implicated_in DOID:0050644 arterial calcification of infancy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 is_implicated_in DOID:0050644 arterial calcification of infancy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12881724 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 is_implicated_in DOID:0050644 arterial calcification of infancy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20016754 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 is_implicated_in DOID:0050644 arterial calcification of infancy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15940697 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_implicated_in DOID:0060879 primary hypomagnesemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17671655 20121019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2988 DOCK2 is_implicated_in DOID:0111951 immunodeficiency 40 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11891 CLEC3B is_implicated_in DOID:0070441 retinal macular dystrophy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220810 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1528 CAV2 is_implicated_in DOID:13544 low tension glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23743525 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15265530 20140307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1497 CASK is_implicated_in DOID:14711 FG syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19200522 20170105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13723 CTCF is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27974201 20220210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15285606 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:349 AHSG is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18316360 20091016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:14731 Weaver syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2671 DAO is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14966479 20200803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1395 CACNA1H is_implicated_in DOID:1825 childhood absence epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12891677 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1395 CACNA1H is_implicated_in DOID:1825 childhood absence epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15879 CTNNBL1 is_not_implicated_in DOID:11981 morbid obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19228371 20150401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_implicated_in DOID:3526 cerebral infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:13258 typhoid fever ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16078047 20200715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19159017 20110519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1673 CD3D is_implicated_in DOID:0111972 immunodeficiency 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14888 DNAJB6 is_implicated_in DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24579 CIB2 is_implicated_in DOID:0110505 autosomal recessive nonsyndromic deafness 48 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1077 BMPR1B is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15805157 20070316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20498205 20110921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12741 EIF4H is_implicated_in DOID:1928 Williams-Beuren syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8812460 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24537 CHMP2B is_implicated_in DOID:9255 frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16041373 20120302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24537 CHMP2B is_implicated_in DOID:9255 frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19202337 20120302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19706 ADAMTSL4 is_implicated_in DOID:0111648 ectopia lentis with ectopia of pupil ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:173 ACVR2A is_implicated_in DOID:3883 Lynch syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28218421 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16676594 20160718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:4988 alcoholic pancreatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26089335 20161130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3444 ERF is_implicated_in DOID:2340 craniosynostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2019 CLCN1 is_implicated_in DOID:2106 myotonia congenita ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7951242 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20128888 20141106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21279724 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:1920 hyperuricemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15713714 20120926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_implicated_in DOID:0110023 age related macular degeneration 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26877 CKAP2L is_implicated_in DOID:0112194 Filippi syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1974 CHUK is_implicated_in DOID:0060647 fetal encasement syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1069 BMP2 is_implicated_in DOID:0050591 tooth agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23079991 20171107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17098 DICER1 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23868705 20210716 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4888 CFHR1 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26317246 20160630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14558 CLEC7A is_implicated_in DOID:13564 aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:10211 cholelithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18296645 20100409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2475 CST3 is_implicated_in DOID:0070027 CST3-related cerebral amyloid angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9722 ALDH18A1 is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26320891 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1759 CDH2 is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28280076 20180425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1759 CDH2 is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28326674 20180425 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210818 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_not_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16572609 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:27089 CARMIL2 is_implicated_in DOID:0111984 immunodeficiency 58 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 is_implicated_in DOID:11713 diabetic angiopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16723689 20090423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16305 ADAMTS15 is_implicated_in DOID:0050646 distal arthrogryposis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231025 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23161 ALG8 is_implicated_in DOID:0080560 congenital disorder of glycosylation Ih ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19967 CCDC88C is_implicated_in DOID:10908 hydrocephalus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2681 DAXX is_implicated_in DOID:1798 pancreatic endocrine carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29212165 20220428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2623 CYP2C9 is_implicated_in DOID:4195 hyperglycemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17597710 20090519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23900271 20170428 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25310 ANKRD27 is_implicated_in DOID:13922 eosinophilic esophagitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25407941 20190730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10609 CCL1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19865101 20150406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24066 CCL4L2 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19279442 20210128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2939 DNA2 is_implicated_in DOID:699 mitochondrial myopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23352259 20150924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:626 APRT is_implicated_in DOID:0060350 adenine phosphoribosyltransferase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0111508 Torrance type platyspondylic dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:67 ABCD3 is_implicated_in DOID:905 Zellweger syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1301993 20061209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2859 DHCR24 is_implicated_in DOID:3146 lipid metabolism disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11519011 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15594 DBR1 is_implicated_in DOID:936 brain disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:232 ADCY1 is_implicated_in DOID:0110501 autosomal recessive nonsyndromic deafness 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2439 CSF3R is_implicated_in DOID:0112129 severe congenital neutropenia 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2214 COL7A1 is_implicated_in DOID:0080086 nonsyndromic congenital nail disorder 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23133441 20201002 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21381012 20140417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:45 ABCB4 is_implicated_in DOID:12236 primary biliary cholangitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18671305 20190625 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:12241 beta thalassemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12803121 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD is_implicated_in DOID:0081164 dilated cardiomyopathy 3B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220831 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2770 DES is_implicated_in DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:467 AMMECR1 is_implicated_in DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2596 CYP1A2 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20080081 20110128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25208933 20201102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3331 EMD is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24997722 20180509 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22660220 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3239 EGR2 is_implicated_in DOID:2477 motor peripheral neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10369870 20070404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3239 EGR2 is_implicated_in DOID:2477 motor peripheral neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12970165 20070404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:1727 retinal vein occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16113792 20131104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:1727 retinal vein occlusion ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10511031 20131104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17534875 20160519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:635 acquired immunodeficiency syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20127180 20170508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21884200 20130927 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16968732 20120921 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26594 DOK7 is_implicated_in DOID:0110668 congenital myasthenic syndrome 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17288 APOA5 is_implicated_in DOID:1172 hyperlipoproteinemia type IV ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21279724 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1142 BTNL2 is_not_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17347014 20141215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2592 CYP11B2 is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15569322 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2204 COL4A3 is_implicated_in DOID:10983 Alport syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7987301 20070330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1839 ADA2 is_implicated_in DOID:13096 Sneddon syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:11383 cryptorchidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15472213 20161229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:11383 cryptorchidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15757859 20161229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2714 DCX is_implicated_in DOID:0112239 X-linked lissencephaly 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210331 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:0080208 metabolic dysfunction-associated steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26591766 20191029 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13709 DEGS1 is_implicated_in DOID:0070399 hypomyelinating leukodystrophy 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190515 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18540 CPT1C is_implicated_in DOID:0110818 hereditary spastic paraplegia 73 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20311 CHAMP1 is_implicated_in DOID:0070070 autosomal dominant intellectual developmental disorder 40 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:4607 biliary tract cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19168589 20100319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17944 EXOSC3 is_implicated_in DOID:0060266 pontocerebellar hypoplasia type 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3602 FBLN5 is_implicated_in DOID:10871 age related macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:1474 aggressive periodontitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15081423 20120227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:69 ABCE1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19657357 20160330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17286 EXOSC1 is_implicated_in DOID:0112331 pontocerebellar hypoplasia type 1F ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210526 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10195920 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14587643 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:10534 stomach cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16270381 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:451 AMACR is_implicated_in DOID:0111068 congenital bile acid synthesis defect 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:0060074 ductal carcinoma in situ ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16280055 20080117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1480 CAPN3 is_implicated_in DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10560 ATXN7 is_implicated_in DOID:0050958 spinocerebellar ataxia type 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180425 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30000 BBS9 is_implicated_in DOID:2340 craniosynostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23160099 20141215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:3347 osteosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23098477 20170728 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11167807 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1392 CACNA1E is_implicated_in DOID:0112205 developmental and epileptic encephalopathy 69 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:966 BBS1 is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14993910 20070416 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:13406 pulmonary sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20722470 20100824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4516 ADGRG2 is_implicated_in DOID:0111863 X-linked congenital bilateral absence of vas deferens ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200619 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:2723 dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16955193 20140307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30226566 20231027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11971182 20080811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180711 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:209 ADAM3A is_implicated_in DOID:0060108 brain glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21138945 20190107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2515 CTNND1 is_implicated_in DOID:0080346 blepharocheilodontic syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_implicated_in DOID:3443 mammary Paget's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16932067 20080219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2638 CYP3A5 is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22215203 20160722 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13917 DDX39B is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11756005 20150513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15126281 20070112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11935 CD40LG is_implicated_in DOID:628 combined T cell and B cell immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21543760 20110920 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2579 CYC1 is_implicated_in DOID:0080115 mitochondrial complex III deficiency nuclear type 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:0080500 ovarian dysgenesis 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18481 ATP6V0A2 is_implicated_in DOID:0070134 autosomal recessive cutis laxa type IIA ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27566080 20170508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1956 CHRNA2 is_implicated_in DOID:0081119 benign familial infantile seizures 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220727 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1965 CHRND is_implicated_in DOID:0110664 congenital myasthenic syndrome 3C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:464 AMH is_implicated_in DOID:0050791 persistent Mullerian duct syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12593727 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18755875 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1393 CACNA1F is_implicated_in DOID:0110871 congenital stationary night blindness 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19634152 20091120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18701435 20100107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:3407 carotid artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16519598 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1966 CHRNE is_implicated_in DOID:0110677 congenital myasthenic syndrome 4B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14415 ELOVL4 is_implicated_in DOID:2566 corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11726641 20061220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2597 CYP1B1 is_implicated_in DOID:3907 lung squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10739169 20140123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1397 CACNA1S is_implicated_in DOID:14452 hypokalemic periodic paralysis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7847370 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1102 BRD1 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16924267 20140929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16783 CDC73 is_implicated_in DOID:13543 hyperparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20414371 20160811 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1356 ERLIN2 is_implicated_in DOID:0110771 hereditary spastic paraplegia 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30460 CENATAC is_implicated_in DOID:0080688 mosaic variegated aneuploidy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221228 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10648 AIMP1 is_implicated_in DOID:0060790 hypomyelinating leukodystrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2214 COL7A1 is_implicated_in DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1402 CACNB2 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28614222 20180319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1511 CASP9 is_not_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23303631 20170905 RGD NCBITaxon:9606 Homo sapiens gene HGNC:282 ADRA2B is_implicated_in DOID:9743 diabetic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17516297 20090930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25662 AAGAB is_implicated_in DOID:0080214 punctate palmoplantar keratoderma type I ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25662 AAGAB is_implicated_in DOID:0080214 punctate palmoplantar keratoderma type I ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24390136 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24866 CEP104 is_implicated_in DOID:0110994 Joubert syndrome 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28188 CFAP300 is_implicated_in DOID:0111852 primary ciliary dyskinesia 38 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21511691 20120711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18710885 20140917 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19986 CYCS is_not_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19172527 20160715 RGD NCBITaxon:9606 Homo sapiens gene HGNC:975 BCAS2 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12169396 20150331 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25801 CPLANE1 is_implicated_in DOID:0060376 Joubert syndrome with orofaciodigital defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11334429 20090423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14522095 20090423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18185908 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2220 COLEC10 is_implicated_in DOID:0060577 3MC syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_implicated_in DOID:557 kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19288030 20091026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17432 CHIA is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20226308 20110302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3344 ENAM is_implicated_in DOID:0110056 amelogenesis imperfecta type 1C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:12689 acoustic neuroma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12540498 20150114 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12713578 20110817 RGD NCBITaxon:9606 Homo sapiens gene HGNC:225 ADAR is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29018269 20210402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16584113 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2026 CLCNKA is_implicated_in DOID:0110146 Bartter disease type 4b ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28506 CFAP251 is_implicated_in DOID:0111915 spermatogenic failure 33 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2342 CRAT is_implicated_in DOID:0110734 neurodegeneration with brain iron accumulation ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:32685 ARMS2 is_implicated_in DOID:0110020 age related macular degeneration 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10628 CCL3L1 is_implicated_in DOID:526 human immunodeficiency virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1069 BMP2 is_implicated_in DOID:0111029 hemochromatosis type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 is_not_implicated_in DOID:9975 cocaine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19001277 20231215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2766 DEFB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15696078 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2766 DEFB1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16435024 20110216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:4423 sea-blue histiocytosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:989 BCL10 is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12566518 20121221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3010 DPP6 is_implicated_in DOID:0070063 autosomal dominant intellectual developmental disorder 33 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7958503 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3528 F10 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25407022 20151217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:3910 lung adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15528220 20141106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14415 ELOVL4 is_implicated_in DOID:0050981 spinocerebellar ataxia type 34 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180425 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11996959 20090520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:376 AKAP6 is_implicated_in DOID:8689 anorexia nervosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21079607 20190206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19659999 20090910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2570 CYB5A is_implicated_in DOID:0112316 methemoglobinemia and ambiguous genitalia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:8923 skin melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17169533 20140909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:719 ARSL is_implicated_in DOID:0060292 X-linked chondrodysplasia punctata 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181017 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16627 CHEK2 is_implicated_in DOID:1614 male breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11967536 20080207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29675 CLCC1 is_implicated_in DOID:0110355 retinitis pigmentosa 32 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200722 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_implicated_in DOID:0050873 follicular lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16671111 20070205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18037 ARID2 is_implicated_in DOID:0080297 Coffin-Siris syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16246971 20120912 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2634 CYP2J2 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17126841 20070606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:779 ATCAY is_implicated_in DOID:0060694 Cayman type cerebellar ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20603 DHDDS is_implicated_in DOID:0080473 developmental delay and seizures with or without movement abnormalities ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:343 AHCY is_implicated_in DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3020 DRD1 is_implicated_in DOID:1074 kidney failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19675531 20130806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:4074 pancreatic adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16397522 20140417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24595 DYNC2LI1 is_implicated_in DOID:0050592 asphyxiating thoracic dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:34143713 20231026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:76 ABL1 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16676365 20210816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:144 ACTG1 is_implicated_in DOID:0110550 autosomal dominant nonsyndromic deafness 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:493 ANK2 is_implicated_in DOID:2843 long QT syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12571597 20070117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:6559061 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16775617 20070730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21528 DIABLO is_implicated_in DOID:0110585 autosomal dominant nonsyndromic deafness 64 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2606 CYP27B1 is_implicated_in DOID:0080886 vitamin D-dependent rickets type 1A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13733 CDH23 is_implicated_in DOID:0050565 autosomal recessive nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17850630 20140618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1102 BRD1 is_not_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19908236 20140930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23159 ALG2 is_implicated_in DOID:0110669 congenital myasthenic syndrome 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2847 DGCR8 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25495208 20231115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25325 CFAP65 is_implicated_in DOID:0111918 spermatogenic failure 40 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191211 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_not_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17565662 20070730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2593 CYP17A1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12631398 20101129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2261 COX11 is_implicated_in DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13723 CTCF is_implicated_in DOID:0050671 female breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32435142 20220211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 is_implicated_in DOID:0080016 spina bifida ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15887293 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:869 ATP7A is_implicated_in DOID:3144 cutis laxa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10739752 20070201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17098 DICER1 is_implicated_in DOID:4769 pleuropulmonary blastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19556464 20210713 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2897 DLC1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15480 DIAPH3 is_implicated_in DOID:0060690 autosomal dominant auditory neuropathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1850 CELSR1 is_implicated_in DOID:0050580 hereditary lymphedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210526 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13887 ABCG8 is_implicated_in DOID:1168 familial hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12671028 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:0110751 type 1 diabetes mellitus 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9462706 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16406195 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1142 BTNL2 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19882345 20141215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:130 ACTA2 is_implicated_in DOID:13099 Moyamoya disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:14175 von Hippel-Lindau disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23109 FAT4 is_implicated_in DOID:0060366 Hennekam syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:697 ARL6IP1 is_implicated_in DOID:0110812 hereditary spastic paraplegia 61 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20908 DZIP1 is_implicated_in DOID:0112175 spermatogenic failure 47 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26013 DNAAF5 is_implicated_in DOID:0110604 primary ciliary dyskinesia 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1361 AOPEP is_implicated_in DOID:543 dystonia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211124 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15819 ANKRD1 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19525294 20110613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1043 BGLAP is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23137636 20150615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1939 CHL1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11986985 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21062 FARS2 is_implicated_in DOID:0111477 combined oxidative phosphorylation deficiency 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17217375 20160310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10090925 20160310 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2203 COL4A2 is_implicated_in DOID:0112314 brain small vessel disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3541 F3 is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32747830 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1301 CFAP298 is_implicated_in DOID:0110627 primary ciliary dyskinesia 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:710 ARR3 is_implicated_in DOID:11830 myopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32747830 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_implicated_in DOID:3181 oligodendroglioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17473192 20180718 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13210 ARL6 is_implicated_in DOID:0110123 Bardet-Biedl syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:13884 sick sinus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22242192 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21493 DNAAF4 is_implicated_in DOID:0110615 primary ciliary dyskinesia 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:406 ALDH4A1 is_implicated_in DOID:0080543 hyperprolinemia type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12176944 20160225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18483392 20100322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19843670 20100322 RGD NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 is_implicated_in DOID:0060285 parietal foramina ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231108 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1477 CAPN10 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20178008 20100714 RGD NCBITaxon:9606 Homo sapiens gene HGNC:53 ABCC2 is_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19451719 20100407 RGD NCBITaxon:9606 Homo sapiens gene HGNC:8768 AIFM1 is_implicated_in DOID:0111502 combined oxidative phosphorylation deficiency 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24041 ADIPOR2 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19631916 20090819 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12590982 20110818 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:9111 cutaneous leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23632983 20140404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16426246 20110930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:914 B2M is_implicated_in DOID:0111981 immunodeficiency 43 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:877 ALDH7A1 is_implicated_in DOID:0080768 pyridoxine-dependent epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3495 ETV6 is_implicated_in DOID:0070004 myeloid neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9044825 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13554 ATP11C is_implicated_in DOID:0111846 X-linked congenital hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_not_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17942509 20081112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:939 BAG3 is_implicated_in DOID:0080097 myofibrillar myopathy 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_not_implicated_in DOID:4947 cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24179546 20210413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1407 CACNG3 is_implicated_in DOID:1825 childhood absence epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11904235 20150209 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19596330 20091026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18305 ATP6AP2 is_implicated_in DOID:0060806 syndromic X-linked intellectual disability Hedera type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24537 CHMP2B is_implicated_in DOID:0111227 chromosome 3-linked frontotemporal dementia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10380986 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:0060224 atrial fibrillation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18239384 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1938 CHKB is_implicated_in DOID:8986 narcolepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18820697 20120522 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23864767 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2950 DNAH5 is_implicated_in DOID:0050144 Kartagener syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11788826 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:4928 intrahepatic cholangiocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24139215 20200128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13723 CTCF is_implicated_in DOID:2513 basal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27974201 20220210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:436 ALOX5AP is_implicated_in DOID:1969 cerebral palsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18977990 20091026 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1759 CDH2 is_implicated_in DOID:0080959 arrhythmogenic right ventricular dysplasia 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15478 ADAM33 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16893396 20101102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1390 CACNA1C is_implicated_in DOID:0060173 Timothy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1390 CACNA1C is_implicated_in DOID:0060173 Timothy syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15863612 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3258 EIF2B2 is_implicated_in DOID:0070373 leukoencephalopathy with vanishing white matter 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18744 DNAI2 is_implicated_in DOID:0110622 primary ciliary dyskinesia 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25154760 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26482462 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12706323 20090626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:34 ABCA4 is_implicated_in DOID:0110015 age related macular degeneration 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2939 DNA2 is_implicated_in DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26504 AGBL1 is_implicated_in DOID:11555 Fuchs' endothelial dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1962 CHRNB2 is_implicated_in DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11104662 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10426194 20130326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15203750 20130326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:164 ACTN2 is_implicated_in DOID:0110428 dilated cardiomyopathy 1AA ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11129341 20150122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18233 BANK1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24342660 20141211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26383 DAW1 is_implicated_in DOID:9562 primary ciliary dyskinesia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231115 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1718 CDC14A is_implicated_in DOID:0110491 autosomal recessive nonsyndromic deafness 32 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6473 AFF3 is_implicated_in DOID:0112383 KINSSHIP syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210623 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17027833 20070406 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17132983 20140711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15944651 20140711 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2501 CTH is_implicated_in DOID:9252 amino acid metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12574942 20070326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2715 DDAH1 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16444868 20070614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17950 BORCS5 is_implicated_in DOID:0050861 colorectal adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27354594 20220513 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:0111873 photosensitive trichothiodystrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_implicated_in DOID:2033 communication disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35642741 20231106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2202 COL4A1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18077766 20090708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:674 cleft palate ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20672350 20170124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29182 CEP164 is_implicated_in DOID:0111123 nephronophthisis 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_implicated_in DOID:0050073 invasive aspergillosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26861072 20210317 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22645426 20140221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA is_implicated_in DOID:0050848 obstructive sleep apnea ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20083432 20110218 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_implicated_in DOID:4661 multiple chemical sensitivity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23936614 20210323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1630 CD151 is_implicated_in DOID:4644 epidermolysis bullosa simplex ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18111 CCDC50 is_implicated_in DOID:0110569 autosomal dominant nonsyndromic deafness 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17503326 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18111 CCDC50 is_implicated_in DOID:0110569 autosomal dominant nonsyndromic deafness 44 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20675 CNDP1 is_implicated_in DOID:2921 glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20851293 20130124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3586 FANCE is_implicated_in DOID:0111084 Fanconi anemia complementation group E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:809 cocaine abuse ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32841724 20211207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19222419 20101014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23361049 20130816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12220450 20130821 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2263 COX15 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12474143 20061130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:2048 autoimmune hepatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30320190 20190424 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2600 CYP21A2 is_implicated_in DOID:0050811 congenital adrenal hyperplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12930931 20101129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18195227 20140723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20399928 20140723 RGD NCBITaxon:9606 Homo sapiens gene HGNC:352 AIF1 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18987644 20090914 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1105 BRDT is_implicated_in DOID:14227 azoospermia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22016351 20140930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2918 DLX5 is_implicated_in DOID:0090021 split hand-foot malformation 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200520 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:47 ABCB6 is_implicated_in DOID:0060304 dyschromatosis universalis hereditaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_implicated_in DOID:9477 pulmonary embolism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20622881 20231211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:201 ADAM22 is_implicated_in DOID:0080434 developmental and epileptic encephalopathy 61 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_not_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18057979 20131220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22304571 20180712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3025 DRD4 is_implicated_in DOID:12399 pathological gambling ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10402503 20170901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH is_implicated_in DOID:10024 migraine with aura ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17095019 20070614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3495 ETV6 is_implicated_in DOID:1240 leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9326218 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_not_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17507624 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1550 CBS is_implicated_in DOID:9279 hyperhomocysteinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10704624 20210106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:0110021 age related macular degeneration 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3097 DYSF is_implicated_in DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3010 DPP6 is_implicated_in DOID:12377 spinal muscular atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19332697 20120203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3356 ENPP1 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18184924 20121022 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_not_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9861324 20081113 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1632 CD164 is_implicated_in DOID:0110587 autosomal dominant nonsyndromic deafness 66 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26158 ELMOD3 is_implicated_in DOID:0050564 autosomal dominant nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210908 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2974 DNM2 is_implicated_in DOID:0111223 centronuclear myopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2593 CYP17A1 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19642097 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_not_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19695727 20091120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1569 CCK is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10668930 20070709 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2187 COL11A2 is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10677296 20070329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26226452 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1784 CDKN1A is_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14738489 20140617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3180 EDNRB is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17470272 20110221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20574532 20191011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10027549 20191011 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_not_implicated_in DOID:12849 autistic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23277129 20171108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19456900 20201028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1802 CDSN is_implicated_in DOID:987 alopecia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12754508 20070214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16538171 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18311470 20110203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 is_implicated_in DOID:0081046 frontonasal dysplasia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231108 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1748 CDH1 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21540309 20110603 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12370 CEP41 is_implicated_in DOID:0110984 Joubert syndrome 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14347 BCAS3 is_implicated_in DOID:0070408 Hengel-Maroofian-Schols syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220209 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2227 COMP is_implicated_in DOID:0080047 pseudoachondroplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2040 CLDN19 is_implicated_in DOID:0060881 renal hypomagnesemia 5 with ocular involvement ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1774 CDK5 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15917097 20180907 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3530 F12 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16411408 20160329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23454776 20140414 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14412 AGXT2 is_implicated_in DOID:3669 intermittent claudication ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24186881 20230726 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:0050921 pharynx squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31429604 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3374 EPAS1 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18650473 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2638 CYP3A5 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16947 ERLIN1 is_implicated_in DOID:0110813 hereditary spastic paraplegia 62 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA is_implicated_in DOID:0060365 mandibulofacial dysostosis with alopecia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2343 CRB1 is_implicated_in DOID:0050572 cone-rod dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23767994 20171115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1449 CALM3 is_implicated_in DOID:0080326 familial hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19429631 20180911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24564 C2CD3 is_implicated_in DOID:4501 orofaciodigital syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17852836 20090505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2180 COCH is_implicated_in DOID:0111644 autosomal recessive nonsyndromic deafness 110 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200129 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26688 CCDC116 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29193083 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:14557 primary pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:57 ABCC6 is_not_implicated_in DOID:2738 pseudoxanthoma elasticum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16835894 20160225 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_not_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9204978 20160623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2095 CLU is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15925890 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2226 COLQ is_implicated_in DOID:0110667 congenital myasthenic syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:3025 acinar cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11891193 20100319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:9477 pulmonary embolism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25316662 20151229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29932 COASY is_implicated_in DOID:0112327 pontocerebellar hypoplasia type 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3337 ADGRE2 is_implicated_in DOID:1554 vibratory urticaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2623 CYP2C9 is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16325295 20090519 RGD NCBITaxon:9606 Homo sapiens gene HGNC:303 AEBP1 is_implicated_in DOID:0080732 Ehlers-Danlos syndrome classic-like 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:30185 CRBN is_implicated_in DOID:0081178 autosomal recessive intellectual developmental disorder 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3436 ERCC4 is_implicated_in DOID:14184 polyneuropathy due to drug ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:35135151 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25062 CATIP is_implicated_in DOID:0112335 spermatogenic failure 54 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210623 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18831 CTHRC1 is_implicated_in DOID:9206 Barrett's esophagus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:694 ARL3 is_implicated_in DOID:0050777 Joubert syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_implicated_in DOID:0111370 apolipoprotein C-III deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17211 DHX38 is_implicated_in DOID:0112141 retinitis pigmentosa 84 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_implicated_in DOID:10923 sickle cell anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20831548 20160719 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3229 EGF is_implicated_in DOID:0060882 renal hypomagnesemia 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:338 AGTR2 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20149750 20120928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:3371 chondrosarcoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23770606 20140609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10555 ATXN2 is_implicated_in DOID:0050955 spinocerebellar ataxia type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:288 ADRB3 is_implicated_in DOID:13189 gout ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21285172 20111220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1102 BRD1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16924267 20140929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:0060655 autosomal recessive congenital ichthyosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9195225 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_not_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15285606 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20613769 20140827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4035 ACKR1 is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19252927 20120228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1101 BRCA2 is_implicated_in DOID:0050902 medulloblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230927 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12484509 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:2018 hyperinsulinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16713443 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18318 ASXL1 is_implicated_in DOID:4797 SM-AHNMD ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24465546 20160222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2198 COL1A2 is_implicated_in DOID:0110340 osteogenesis imperfecta type 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:463 AMFR is_implicated_in DOID:0070458 hereditary spastic paraplegia 89 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230531 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16015153 20131024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:0110028 age related macular degeneration 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19048 ASPM is_implicated_in DOID:11832 visual epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16141009 20070129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:318 AGA is_implicated_in DOID:3211 lysosomal storage disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1703489 20061219 RGD NCBITaxon:9606 Homo sapiens gene HGNC:277 ADRA1A is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33577997 20231227 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1323 C4A is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19150565 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4332 BICRA is_implicated_in DOID:0112370 Coffin-Siris syndrome 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210616 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20266 ALG5 is_implicated_in DOID:0080322 polycystic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221012 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:894 AVP is_implicated_in DOID:9409 diabetes insipidus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8945633 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3437 ERCC5 is_implicated_in DOID:2596 larynx cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19444904 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2356 CRHBP is_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14573312 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11529 EPCAM is_implicated_in DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1090 DST is_implicated_in DOID:4644 epidermolysis bullosa simplex ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:903 AXIN1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31143301 20211206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0112195 spondyloperipheral dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2188 COL12A1 is_implicated_in DOID:0050558 Ullrich congenital muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21307 DSG4 is_implicated_in DOID:4535 hypotrichosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15191570 20070215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24308 CLPTM1L is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24679952 20211220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:386 AKR1C3 is_implicated_in DOID:1240 leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18339682 20161010 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30881 ALG13 is_implicated_in DOID:0080470 developmental and epileptic encephalopathy 36 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2321 CPOX is_implicated_in DOID:409 liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7849704 20070402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2214 COL7A1 is_implicated_in DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1571 CCKBR is_implicated_in DOID:594 panic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15354400 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25568 FANCI is_implicated_in DOID:13636 Fanconi anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26590883 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1404 CACNB4 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29495422 20180330 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3178 EDN3 is_implicated_in DOID:9258 Waardenburg syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8630502 20070403 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2877 DIAPH2 is_implicated_in DOID:0080858 primary ovarian insufficiency 2A ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1673 CD3D is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14602880 20150211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15718 APCDD1 is_implicated_in DOID:0110698 hypotrichosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24010 CFAP91 is_implicated_in DOID:0112273 spermatogenic failure 51 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24123 B9D1 is_implicated_in DOID:0110996 Joubert syndrome 27 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2852 DGKE is_implicated_in DOID:0080388 nephrotic syndrome type 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231227 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3535 F2 is_implicated_in DOID:13001 carotid stenosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15748240 20111111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23157 ALG6 is_implicated_in DOID:0080555 congenital disorder of glycosylation Ic ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3571 ACSL4 is_implicated_in DOID:0112050 non-syndromic X-linked intellectual disability 63 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17229 CFAP45 is_implicated_in DOID:0050545 visceral heterotaxy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211201 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3446 ERG is_implicated_in DOID:0050580 hereditary lymphedema ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231206 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 is_implicated_in DOID:0111866 trichothiodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9012405 20130626 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19191 DOCK8 is_implicated_in DOID:0080594 hyper IgE recurrent infection syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21763205 20210112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19191 DOCK8 is_implicated_in DOID:0080594 hyper IgE recurrent infection syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:397 ALAS2 is_implicated_in DOID:8955 sideroblastic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7949148 20070112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3437 ERCC5 is_implicated_in DOID:0110849 xeroderma pigmentosum group G ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19191 DOCK8 is_implicated_in DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29058101 20201203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21498 ATG16L1 is_implicated_in DOID:0110885 inflammatory bowel disease 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:42435 ADAMTS9-AS2 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28821857 20231024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20375340 20150924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2591 CYP11B1 is_implicated_in DOID:446 primary hyperaldosteronism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1731223 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:801 ATP1A3 is_implicated_in DOID:3312 bipolar disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9646882 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:646 viral encephalitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25751776 20201213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2858 DGUOK is_implicated_in DOID:0080121 mitochondrial DNA depletion syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:320 AGER is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16728681 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3176 EDN1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18806884 20090915 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15993 CHST8 is_implicated_in DOID:0060283 peeling skin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:0111561 stiff skin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180711 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14412 AGXT2 is_implicated_in DOID:6000 congestive heart failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27423328 20230720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:166 ACTN4 is_implicated_in DOID:1312 focal segmental glomerulosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10700177 20061216 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15708894 20121231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2578 CYBB is_implicated_in DOID:0112000 immunodeficiency 34 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1071 BMP4 is_implicated_in DOID:1882 atrial heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25022354 20171106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:12894 Sjogren's syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12412204 20140411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1480 CAPN3 is_implicated_in DOID:9884 muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9150160 20070327 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:3132 porphyria cutanea tarda ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14714565 20170106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2158 CNP is_not_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17306456 20120518 RGD NCBITaxon:9606 Homo sapiens gene HGNC:171 ACVR1 is_implicated_in DOID:1405 primary angle-closure glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32641001 20230524 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:0110026 age related macular degeneration 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:392 AKT2 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22815832 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14004 ANO3 is_implicated_in DOID:0090052 dystonia 24 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3033 ATN1 is_implicated_in DOID:0060162 dentatorubral-pallidoluysian atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180725 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:33939 CLRN2 is_implicated_in DOID:0050565 autosomal recessive nonsyndromic deafness ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17667965 20080226 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3583 FANCB is_implicated_in DOID:0111098 Fanconi anemia complementation group B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2715 DDAH1 is_implicated_in DOID:1287 cardiovascular system disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16444868 20070614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1397 CACNA1S is_implicated_in DOID:0081350 congenital myopathy 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17678726 20121231 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26929 CDIN1 is_implicated_in DOID:0111397 congenital dyserythropoietic anemia type Ib ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191009 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1516 CAT is_not_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23868633 20140827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1423316 20100319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3179 EDNRA is_implicated_in DOID:850 lung disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20028935 20110217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2150 CNGA3 is_implicated_in DOID:0110007 achromatopsia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_not_implicated_in DOID:13406 pulmonary sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16608528 20101117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2865 DHH is_implicated_in DOID:14448 46,XY sex reversal ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11017805 20070404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2092 CLTC is_implicated_in DOID:0080226 autosomal dominant intellectual developmental disorder 56 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:0112281 spondyloepiphyseal dysplasia Stanescu type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1987 CITED2 is_implicated_in DOID:1657 ventricular septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23752 CERS3 is_implicated_in DOID:0060718 autosomal recessive congenital ichthyosis 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:703 ARPC1A is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19145645 20100409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:838 ATP5F1E is_implicated_in DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29086 CEP135 is_implicated_in DOID:0070282 primary autosomal recessive microcephaly 8 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1509 CASP8 is_implicated_in DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180328 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14872 ASPN is_implicated_in DOID:90 degenerative disc disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18304494 20141211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13222 BCL11B is_implicated_in DOID:0111979 immunodeficiency 49 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17073 ARHGAP26 is_implicated_in DOID:0081082 acute myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10908648 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:566 AP3B1 is_implicated_in DOID:3770 pulmonary fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12125811 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3596 FAT2 is_implicated_in DOID:0080287 spinocerebellar ataxia 45 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2719 DDC is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20505134 20070329 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:0110334 osteogenesis imperfecta type 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181017 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20893 BCOR is_implicated_in DOID:83 cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15004558 20221028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:8970 subacute sclerosing panencephalitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16741935 20201105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11860825 20190829 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1705 CD86 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16790753 20110223 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_not_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21319597 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:10976 membranous glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3272818 20130419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2206 COL4A4 is_implicated_in DOID:0110033 autosomal recessive Alport syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24576 CDT1 is_implicated_in DOID:0080515 Meier-Gorlin syndrome 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20978355 20191021 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:10939 antisocial personality disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25918995 20231205 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18661 DNAH7 is_implicated_in DOID:9562 primary ciliary dyskinesia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:13078 eumycotic mycetoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17709521 20211122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:122 ACP1 is_implicated_in DOID:12995 conduct disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12231445 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:652 ARF1 is_implicated_in DOID:0050454 periventricular nodular heterotopia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15984 APTX is_implicated_in DOID:14784 olivopontocerebellar atrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21465257 20150804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12771 CCN6 is_implicated_in DOID:0090004 progressive pseudorheumatoid arthropathy of childhood ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13723 CTCF is_implicated_in DOID:3151 skin squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27974201 20220210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2025 CLCN7 is_implicated_in DOID:0110944 autosomal recessive osteopetrosis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:22393 BRINP3 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27461004 20190422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13830 CNTNAP2 is_implicated_in DOID:4189 mutism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21193173 20171108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 is_implicated_in DOID:3459 breast carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15978329 20100413 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2267 COX5A is_implicated_in DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29298 CEP152 is_implicated_in DOID:0070012 Seckel syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:758 ASS1 is_implicated_in DOID:9273 citrullinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7557970 20070129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3133 EBP is_implicated_in DOID:2581 chondrodysplasia punctata ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10391218 20070402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_not_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18326737 20140922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:14499 Fabry disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24020479 20170926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_not_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18200441 20130903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21024 CUL7 is_implicated_in DOID:0060241 3-M syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190327 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1393 CACNA1F is_implicated_in DOID:0111007 X-linked cone-rod dystrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1393 CACNA1F is_implicated_in DOID:0111007 X-linked cone-rod dystrophy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16505158 20180910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19838659 20121119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3402 EPHX2 is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11692079 20120229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18620 COG4 is_implicated_in DOID:0111673 Saul-Wilson syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13733 CDH23 is_implicated_in DOID:0110831 Usher syndrome type 1D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:491 ANGPTL3 is_implicated_in DOID:0111061 familial hypobetalipoproteinemia 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:855 ATP6V0C is_implicated_in DOID:0070472 early-onset epilepsy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3386 EPHA2 is_implicated_in DOID:0110229 cataract 6 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2219 COL9A3 is_implicated_in DOID:0080046 Stickler syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25407022 20151217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1020 BCS1L is_implicated_in DOID:0111455 GRACILE syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14376 ACP4 is_implicated_in DOID:0080953 amelogenesis imperfecta type 1J ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1103 BRD2 is_implicated_in DOID:3159 photosensitivity disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16516380 20140929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:37276 CRPPA is_implicated_in DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18040 ARID1B is_implicated_in DOID:0070042 Coffin-Siris syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180725 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3331 EMD is_implicated_in DOID:11726 Emery-Dreifuss muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7894480 20061221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13919 BAG6 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25884493 20190220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1318 C3 is_implicated_in DOID:8354 complement component 3 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:2596 larynx cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19444904 20221003 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23056 ALG3 is_implicated_in DOID:0080556 congenital disorder of glycosylation Id ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1402 CACNB2 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24338417 20180319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1371 CA12 is_implicated_in DOID:0111371 isolated hyperchlorhidrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21062 FARS2 is_implicated_in DOID:0110822 hereditary spastic paraplegia 77 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18481 ATP6V0A2 is_implicated_in DOID:0112171 wrinkly skin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:1168 familial hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26922556 20190826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20626 CHD7 is_implicated_in DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14262 AUTS2 is_implicated_in DOID:0070056 autosomal dominant intellectual developmental disorder 26 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1955 CHRNA1 is_implicated_in DOID:0110662 congenital myasthenic syndrome 1B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17652883 20081112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_implicated_in DOID:3234 central nervous system lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28619981 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2938 DMXL2 is_implicated_in DOID:0112217 developmental and epileptic encephalopathy 81 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20191211 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:122 ACP1 is_implicated_in DOID:9351 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8620937 20090911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:1407 anterior uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22714898 20131118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:947 BAIAP2 is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24377651 20170106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1856 CENPE is_implicated_in DOID:0070283 primary autosomal recessive microcephaly 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14258 CD2AP is_implicated_in DOID:0112245 focal segmental glomerulosclerosis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180307 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16714771 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16692 CD320 is_implicated_in DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2705 DCN is_implicated_in DOID:0060445 congenital stromal corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:59 ABCC8 is_implicated_in DOID:2018 hyperinsulinism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12199344 20061208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1383 CA9 is_implicated_in DOID:2043 hepatitis B ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32297155 20210107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_implicated_in DOID:13223 uterine fibroid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23818951 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_implicated_in DOID:3145 hyperlipoproteinemia type III ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2879788 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_not_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18389617 20110201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2472 CSRP3 is_implicated_in DOID:12930 dilated cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12507422 20061201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1037 CFB is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:3118258 20130419 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19782713 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12036914 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1477 CAPN10 is_implicated_in DOID:11612 polycystic ovary syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17106059 20070517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:0110035 Alzheimer's disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:983 BCHE is_implicated_in DOID:655 inherited metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9694584 20070417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1404 CACNB4 is_implicated_in DOID:0050993 episodic ataxia type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16695 BCAP31 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24011989 20131202 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2593 CYP17A1 is_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17002564 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1047 BHMT is_implicated_in DOID:9477 pulmonary embolism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:37203835 20230615 RGD NCBITaxon:9606 Homo sapiens gene HGNC:417 ALDOB is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12646233 20090924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:704 ARPC1B is_implicated_in DOID:0112004 immunodeficiency 71 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18305 ATP6AP2 is_implicated_in DOID:0112105 X-linked parkinsonism-spasticity syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2481 CSTA is_implicated_in DOID:0060283 peeling skin syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_not_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9270088 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13921 ABHD16A is_implicated_in DOID:0112342 hereditary spastic paraplegia 86 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220223 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:583 APC is_implicated_in DOID:2671 transitional cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21599969 20130326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1476 CAPN1 is_implicated_in DOID:0110821 hereditary spastic paraplegia 76 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:172 ACVR1B is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11248065 20230628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:172 ACVR1B is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25567 ATAD3A is_implicated_in DOID:0081395 Harel-Yoon syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:1067 open-angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16110302 20131213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18688 CRB2 is_implicated_in DOID:0111134 focal segmental glomerulosclerosis 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25695 CARS2 is_implicated_in DOID:0111489 combined oxidative phosphorylation deficiency 27 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2357 CRHR1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14724656 20070724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3495 ETV6 is_implicated_in DOID:2226 myeloproliferative neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12181402 20160119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25789 EFL1 is_implicated_in DOID:0060479 Shwachman-Diamond syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17505143 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26107 CFAP69 is_implicated_in DOID:0111929 spermatogenic failure 24 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1069 BMP2 is_implicated_in DOID:12185 otosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18021008 20140812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21307 DSG4 is_implicated_in DOID:0110703 hypotrichosis 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3097 DYSF is_implicated_in DOID:0070199 Miyoshi muscular dystrophy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180912 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:0050864 non-arteritic anterior ischemic optic neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21633717 20140325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:0050908 myelodysplastic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22869879 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3443 EREG is_implicated_in DOID:399 tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22170233 20201006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3402 EPHX2 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14732757 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30858 EFTUD2 is_implicated_in DOID:10485 esophageal atresia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23188108 20150827 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:12466 secondary hyperparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19640368 20130108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX is_implicated_in DOID:0112238 X-linked lissencephaly 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12379852 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18060 ARX is_implicated_in DOID:0112238 X-linked lissencephaly 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:620 APP is_implicated_in DOID:0080348 Alzheimer's disease 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20181017 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_not_implicated_in DOID:0081120 Graves ophthalmopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22663548 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:13078 eumycotic mycetoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20184498 20140619 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20 AARS1 is_implicated_in DOID:0111866 trichothiodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15559 CHCHD10 is_implicated_in DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:8778 Crohn's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15505619 20061204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:2917 cryoglobulinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28453396 20190826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3556 FABP2 is_implicated_in DOID:14018 alcoholic liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16289894 20070806 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29013 CLEC16A is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18946483 20110928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29013 CLEC16A is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19221398 20110928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1078 BMPR2 is_implicated_in DOID:14557 primary pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180905 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25316812 20160628 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10672 CXCL12 is_not_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14679085 20090423 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14685 F11R is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18067551 20131206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1929 CHGA is_not_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20113265 20121019 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:8552 chronic myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26563376 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1788 CDKN2B is_implicated_in DOID:2671 transitional cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11720438 20080627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2928 DMD is_implicated_in DOID:9883 Becker muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180228 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2948 DNAH2 is_implicated_in DOID:0112163 spermatogenic failure 45 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201202 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:12030 panuveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23497844 20131015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25801 CPLANE1 is_implicated_in DOID:0110986 Joubert syndrome 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3133 EBP is_implicated_in DOID:0080352 X-linked chondrodysplasia punctata 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:20730 ARMC9 is_implicated_in DOID:0080275 Joubert syndrome 30 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3087 DVL3 is_implicated_in DOID:0060767 autosomal dominant Robinow syndrome 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:6846 familial melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2452 CSNK1D is_implicated_in DOID:0110012 advanced sleep phase syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24650 EHMT1 is_implicated_in DOID:0060352 Kleefstra syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190320 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29043 DSTYK is_implicated_in DOID:0110774 hereditary spastic paraplegia 23 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1352 C8A is_implicated_in DOID:0060301 type I complement component 8 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1699 CD79B is_implicated_in DOID:0081138 agammaglobulinemia 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1331 C5 is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15278436 20110405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1323 C4A is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17503323 20120222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20116881 20161130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29101 ANKLE2 is_implicated_in DOID:0070289 primary autosomal recessive microcephaly 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:0090122 aromatase excess syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3003 DPH1 is_implicated_in DOID:0070477 diphthamide deficiency syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24270 DPH5 is_implicated_in DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221109 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1133 BTK is_implicated_in DOID:0060875 isolated growth hormone deficiency type III ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:0060731 congenital central hypoventilation syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11840487 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3527 EZH2 is_implicated_in DOID:8761 acute megakaryocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24056718 20160122 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3381 EPB42 is_implicated_in DOID:0110920 hereditary spherocytosis type 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1706 CD8A is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20523302 20110119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20622881 20231211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25169547 20160721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:854 ATP6V1B2 is_implicated_in DOID:0080720 autosomal dominant congenital deafness with onychodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2227 COMP is_implicated_in DOID:0070303 multiple epiphyseal dysplasia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1910 CHAF1A is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18048407 20141015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3588 FANCG is_implicated_in DOID:13636 Fanconi anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9806548 20070220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18856 CREB3L1 is_implicated_in DOID:0110345 osteogenesis imperfecta type 16 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:22140 FAM20C is_implicated_in DOID:2187 amelogenesis imperfecta ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25928877 20161108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:5959 ELP1 is_not_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12774215 20110325 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2323 CPS1 is_implicated_in DOID:9280 carbamoyl phosphate synthetase I deficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2323 CPS1 is_implicated_in DOID:9280 carbamoyl phosphate synthetase I deficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8486760 20231213 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:161 ACTL7A is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230906 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2950 DNAH5 is_implicated_in DOID:0110599 primary ciliary dyskinesia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2718 DDB2 is_implicated_in DOID:0110846 xeroderma pigmentosum group E ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_implicated_in DOID:12704 ataxia telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19898928 20190401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3402 EPHX2 is_implicated_in DOID:13810 familial hypercholesterolemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16679777 20231009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:404 ALDH2 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20077761 20231009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25443 C19orf12 is_implicated_in DOID:0110795 hereditary spastic paraplegia 43 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2918 DLX5 is_implicated_in DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16405 BUD23 is_implicated_in DOID:1928 Williams-Beuren syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11978965 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:851 ATP6V1A is_implicated_in DOID:0070129 autosomal recessive cutis laxa type IID ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:25240 ANO6 is_implicated_in DOID:7147 ankylosing spondylitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23308121 20160617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15868 ABHD12 is_implicated_in DOID:0080181 PHARC syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:10609 CCL1 is_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19057661 20110112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:195 ADAM17 is_implicated_in DOID:0050589 inflammatory bowel disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17119055 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3438 ERCC6 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29151331 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26530 CFAP53 is_implicated_in DOID:0050545 visceral heterotaxy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16227367 20100316 RGD NCBITaxon:9606 Homo sapiens gene HGNC:450 ALX4 is_implicated_in DOID:2340 craniosynostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231108 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:966 BBS1 is_implicated_in DOID:0110123 Bardet-Biedl syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23039890 20141103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1935 CHIC2 is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2615 CYP2B6 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21790905 20231127 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13575 BRD4 is_implicated_in DOID:11725 Cornelia de Lange syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15766 ADNP is_implicated_in DOID:0070058 Helsmoortel-Van Der Aa Syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2364 CRLF1 is_implicated_in DOID:0080329 cold-induced sweating syndrome 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180307 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20182352 20110301 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12605 CLRN1 is_implicated_in DOID:0110373 retinitis pigmentosa 61 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:14677 DEAF1 is_implicated_in DOID:0070054 Vulto-van Silfout-de Vries syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17111 ADAMTS19 is_implicated_in DOID:1682 congenital heart disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20221207 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3443 EREG is_implicated_in DOID:0050598 extrapulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30634928 20201006 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9796972 20171004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18758 BBS7 is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12567324 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16787 EDEM3 is_implicated_in DOID:0050571 congenital disorder of glycosylation type II ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210908 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_implicated_in DOID:2030 anxiety disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9513185 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:0110339 osteogenesis imperfecta type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_implicated_in DOID:13809 familial combined hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9062353 20120116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20492 COA8 is_implicated_in DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18423 DEPDC5 is_implicated_in DOID:0112202 developmental and epileptic encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230927 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17412 CLCF1 is_implicated_in DOID:0080330 cold-induced sweating syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:31948 CEACAM16 is_implicated_in DOID:0111636 autosomal recessive nonsyndromic deafness 113 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190515 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:804 ATP1B1 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3603 FBN1 is_implicated_in DOID:0111243 acromicric dysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3595 FAT1 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31199602 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3327 ELN is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16081882 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20473 BRIP1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27165003 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28596 B3GALNT2 is_implicated_in DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1373 CA2 is_implicated_in DOID:0110941 autosomal recessive osteopetrosis 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29013 CLEC16A is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19221398 20110928 RGD NCBITaxon:9606 Homo sapiens gene HGNC:15492 ANKH is_implicated_in DOID:1156 chondrocalcinosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12297987 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2328 CPT1A is_implicated_in DOID:0090129 carnitine palmitoyltransferase I deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:51 ABCC1 is_implicated_in DOID:0112168 autosomal dominant nonsyndromic deafness 77 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200701 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_not_implicated_in DOID:12306 vitiligo ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18200060 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:2355 anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24533712 20160624 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1570 CCKAR is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9192855 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:30794 CEP57 is_implicated_in DOID:0080142 mosaic variegated aneuploidy syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:9074 systemic lupus erythematosus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21637784 20111222 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3522 EYA4 is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15735644 20061129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:795 ATM is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17164260 20080618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20 AARS1 is_implicated_in DOID:10579 leukodystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220112 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:952 BARD1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16152612 20100111 RGD NCBITaxon:9606 Homo sapiens gene HGNC:9722 ALDH18A1 is_implicated_in DOID:0070131 autosomal dominant cutis laxa 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_implicated_in DOID:3602 toxic encephalopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17022435 20120302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17098 DICER1 is_implicated_in DOID:0050489 multinodular goiter ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220216 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17116 CATSPER1 is_implicated_in DOID:0070173 spermatogenic failure 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:143 ACTC1 is_implicated_in DOID:0110456 dilated cardiomyopathy 1R ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180228 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2594 CYP19A1 is_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18497059 20080923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2453 CSNK1E is_implicated_in DOID:3008 invasive ductal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14871824 20090507 RGD NCBITaxon:9606 Homo sapiens gene HGNC:28636 B9D2 is_implicated_in DOID:0050777 Joubert syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1965 CHRND is_implicated_in DOID:0110665 congenital myasthenic syndrome 3B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180214 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16783 CDC73 is_implicated_in DOID:1540 parathyroid carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:37 ABCA7 is_implicated_in DOID:0111364 Alzheimer's disease 9 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2208 COL4A6 is_implicated_in DOID:0111740 X-linked deafness 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2345 CREB1 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24704376 20231214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3255 EIF2AK3 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15483661 20070404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_not_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19880712 20100825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16406 EFHC1 is_implicated_in DOID:4890 juvenile myoclonic epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190502 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:2841 asthma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20298391 20100825 RGD NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1100 BRCA1 is_implicated_in DOID:1793 pancreatic cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:0050427 xeroderma pigmentosum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7849702 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:122 ACP1 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19246900 20090911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10634 CCL7 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12127674 20120604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19321582 20140724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2088 CLPX is_implicated_in DOID:13270 erythropoietic protoporphyria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:12705 Friedreich ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21771600 20230803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_not_implicated_in DOID:11476 osteoporosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17953702 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3023 DRD2 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18366720 20090724 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25407022 20151217 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1515 CAST is_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20127884 20111104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_not_implicated_in DOID:1070 primary open angle glaucoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15525904 20131213 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21667241 20130104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10632 CCL5 is_implicated_in DOID:1883 hepatitis C ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27304910 20190520 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_implicated_in DOID:0050830 peripheral artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20622881 20231211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18141 DCDC2 is_implicated_in DOID:0110517 autosomal recessive nonsyndromic deafness 66 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18141 DCDC2 is_implicated_in DOID:0110517 autosomal recessive nonsyndromic deafness 66 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25601850 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1424 CAD is_implicated_in DOID:0080419 developmental and epileptic encephalopathy 50 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:251 ADH1C is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1503 CASP2 is_implicated_in DOID:0060308 autosomal recessive intellectual developmental disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231220 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:865 ATP6V0A1 is_implicated_in DOID:0070390 developmental and epileptic encephalopathy 104 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220810 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:560 AP1S2 is_implicated_in DOID:0060800 syndromic X-linked intellectual disability 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1241 C1QA is_implicated_in DOID:2921 glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8840296 20070313 RGD NCBITaxon:9606 Homo sapiens gene HGNC:989 BCL10 is_implicated_in DOID:0111939 immunodeficiency 37 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:574 AP4M1 is_implicated_in DOID:0110802 hereditary spastic paraplegia 50 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21050 CDKAL1 is_implicated_in DOID:8947 diabetic retinopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:28821857 20231024 RGD NCBITaxon:9606 Homo sapiens gene HGNC:25540 ARHGEF10L is_implicated_in DOID:6212 ovarian endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29979793 20190201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_not_implicated_in DOID:676 juvenile rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16426246 20110930 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1773 CDK4 is_implicated_in DOID:3068 glioblastoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23796897 20180717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2641 CYP46A1 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12232784 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1833 CEBPA is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1406 CACNG2 is_implicated_in DOID:0070040 autosomal dominant intellectual developmental disorder 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:9722 ALDH18A1 is_implicated_in DOID:1283 enterocele ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26320891 20171009 RGD NCBITaxon:9606 Homo sapiens gene HGNC:959 BAX is_implicated_in DOID:9952 acute lymphoblastic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1122 BTD is_implicated_in DOID:856 biotinidase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 is_implicated_in DOID:4990 essential tremor ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16650084 20070803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26820 CYP4F22 is_implicated_in DOID:0060714 autosomal recessive congenital ichthyosis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24040 ADIPOR1 is_implicated_in DOID:2526 prostate adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21397927 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17642 DCLRE1C is_implicated_in DOID:627 severe combined immunodeficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11336668 20070404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_not_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15077257 20131104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:438 ALPL is_implicated_in DOID:0110915 childhood hypophosphatasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1069 BMP2 is_implicated_in DOID:0110965 brachydactyly type A2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:896 AVPR1B is_not_implicated_in DOID:1596 depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23068076 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:119 ACOX1 is_implicated_in DOID:0070516 Mitchell syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201104 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2760 DEF6 is_implicated_in DOID:612 primary immunodeficiency disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2218 COL9A2 is_implicated_in DOID:2256 osteochondrodysplasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8528240 20070402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20580 CYP2R1 is_implicated_in DOID:3454 brain infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:36762557 20231129 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1582 CCND1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15538282 20080123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:882 ATR is_implicated_in DOID:219 colon cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17879369 20210826 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2334 CR1 is_implicated_in DOID:12365 malaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_not_implicated_in DOID:9111 cutaneous leishmaniasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17214851 20140404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14620161 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1869 CETP is_implicated_in DOID:0111369 hyperalphalipoproteinemia 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:557 kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22700162 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:23168 FANCM is_implicated_in DOID:0080872 primary ovarian insufficiency 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200101 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:13809 familial combined hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17127808 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:13809 familial combined hyperlipidemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12915220 20070411 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29516665 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29151331 20221004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_not_implicated_in DOID:1270 hereditary hemorrhagic telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10899246 20160324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19849 C14orf39 is_implicated_in DOID:0112270 spermatogenic failure 52 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210303 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:0060704 lymphoproliferative syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7539157 20070307 RGD NCBITaxon:9606 Homo sapiens gene HGNC:947 BAIAP2 is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20888579 20170105 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:718 autoimmune hemolytic anemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12555221 20160712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:1205 allergic disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10200023 20140130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6938 CHST6 is_implicated_in DOID:2565 macular corneal dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:28178 CCDC115 is_implicated_in DOID:0070267 congenital disorder of glycosylation type IIo ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1001 BCL6 is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11821949 20070228 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18685642 20170512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:12574 posterior uveitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17417600 20140609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11393670 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17299437 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16950285 20101015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:4483 rhinitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20109306 20101015 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21191 DAOA is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21191 DAOA is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14966479 20180130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14638 ABCA13 is_implicated_in DOID:3717 gastric adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27366209 20220609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32747830 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:163 ACTN1 is_implicated_in DOID:0111053 platelet-type bleeding disorder 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3424 ERAL1 is_implicated_in DOID:0080256 Perrault syndrome 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:784 chronic kidney disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12832734 20140324 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:0050866 oral squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21883707 20140612 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1529 CAV3 is_implicated_in DOID:0060255 rippling muscle disease 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16099331 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16393 CARD11 is_implicated_in DOID:0050745 diffuse large B-cell lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18323416 20160614 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19777235 20141107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:6713 cerebrovascular disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16109907 20070409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13666 AAAS is_implicated_in DOID:0050602 triple-A syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:2871 endometrial carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16144912 20170922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2978 DNMT3A is_implicated_in DOID:0112339 Tatton-Brown-Rahman syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24035 APPL1 is_implicated_in DOID:0111111 maturity-onset diabetes of the young type 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2860 DHCR7 is_implicated_in DOID:13241 Behcet's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24184224 20231128 RGD NCBITaxon:9606 Homo sapiens gene HGNC:10618 CCL2 is_implicated_in DOID:326 ischemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15308783 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18143 DAAM2 is_implicated_in DOID:2590 familial nephrotic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210414 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:3121 gallbladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18405329 20100412 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2631 CYP2E1 is_implicated_in DOID:9261 nasopharynx carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26582733 20190822 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3267 EIF2S3 is_implicated_in DOID:0060801 MEHMO syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:638 AQP5 is_implicated_in DOID:0111707 Bothnian type palmoplantar keratoderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13273 DUOX2 is_implicated_in DOID:0112189 thyroid dyshormonogenesis 6 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2622 CYP2C8 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18769365 20130508 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2388 CRYAA is_implicated_in DOID:0110266 cataract 9 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:537 ANXA2 is_implicated_in DOID:10159 osteonecrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15784727 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1068 BMP15 is_implicated_in DOID:0080494 ovarian dysgenesis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1460 CAMK2A is_implicated_in DOID:0080228 autosomal dominant intellectual developmental disorder 53 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21555 EYS is_implicated_in DOID:0110384 retinitis pigmentosa 25 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:469 AMPD2 is_implicated_in DOID:0110814 hereditary spastic paraplegia 63 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:543 ANXA5 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16025836 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:553 AOX1 is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7570184 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3542 F5 is_implicated_in DOID:783 end stage renal disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19520684 20120911 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17825114 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21732 ANTXR2 is_implicated_in DOID:0050871 fibroma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14508707 20070117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2197 COL1A1 is_implicated_in DOID:0110341 osteogenesis imperfecta type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:437 myasthenia gravis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10606977 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:93 ACAT1 is_implicated_in DOID:2978 carbohydrate metabolic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:7617578 20100630 RGD NCBITaxon:9606 Homo sapiens gene HGNC:610 APOC3 is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16505251 20090505 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3010 DPP6 is_implicated_in DOID:332 amyotrophic lateral sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18708572 20120203 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24132918 20171206 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:9744 type 1 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9025006 20140124 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1077 BMPR1B is_implicated_in DOID:0110965 brachydactyly type A2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:3083 chronic obstructive pulmonary disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20732370 20110118 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13919 BAG6 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25231575 20190220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:0060025 immunoglobulin alpha deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19020530 20160708 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13743 ALOXE3 is_implicated_in DOID:0060656 autosomal recessive congenital ichthyosis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11773004 20070115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2516 CTNND2 is_implicated_in DOID:1470 major depressive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24256404 20201214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3706 ATP8B1 is_implicated_in DOID:0070226 progressive familial intrahepatic cholestasis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3401 EPHX1 is_not_implicated_in DOID:14330 Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11692079 20120229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_implicated_in DOID:1240 leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12781647 20160229 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21699 CERKL is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14681825 20070328 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2194 COL17A1 is_implicated_in DOID:0070337 epithelial recurrent erosion dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2909 DLL3 is_implicated_in DOID:1934 dysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10742114 20070214 RGD NCBITaxon:9606 Homo sapiens gene HGNC:451 AMACR is_implicated_in DOID:0060602 alpha-methylacyl-CoA racemase deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3433 ERCC1 is_implicated_in DOID:9538 multiple myeloma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21435719 20160627 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2212 COL6A2 is_implicated_in DOID:0050558 Ullrich congenital muscular dystrophy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230621 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:24040 ADIPOR1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19723917 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11064355 20160621 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1373 CA2 is_implicated_in DOID:13533 osteopetrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:1301935 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14153 CCDC78 is_implicated_in DOID:0111224 centronuclear myopathy 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2169 CNTF is_not_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14747836 20070712 RGD NCBITaxon:9606 Homo sapiens gene HGNC:22393 BRINP3 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18430236 20190422 RGD NCBITaxon:9606 Homo sapiens gene HGNC:333 AGT is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9023164 20170922 RGD NCBITaxon:9606 Homo sapiens gene HGNC:949 BAK1 is_implicated_in DOID:12704 ataxia telangiectasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19898928 20190401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3084 DVL1 is_implicated_in DOID:0060765 autosomal dominant Robinow syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22546513 20180116 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2032 CLDN1 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21163515 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:591 BIRC3 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32905523 20220727 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:11716 prediabetes syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18096169 20091001 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3595 FAT1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:31085721 20220201 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29 ABCA1 is_implicated_in DOID:9970 obesity ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17287470 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:13203 AICDA is_implicated_in DOID:0060758 immunodeficiency with hyper-IgM type 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180829 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:129 ACTA1 is_implicated_in DOID:0081339 congenital myopathy 2B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230607 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18233 BANK1 is_implicated_in DOID:1580 diffuse scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19815934 20141212 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24990 COA3 is_implicated_in DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20201111 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1358 C9 is_implicated_in DOID:2559 opiate dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18438686 20231031 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7 A2M is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11498265 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:373 AKAP3 is_implicated_in DOID:0111910 spermatogenic failure ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:19087 EBF3 is_implicated_in DOID:0081176 hypotonia, ataxia, and delayed development syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15879 CTNNBL1 is_implicated_in DOID:9256 colorectal cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21537400 20150401 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2379 CRTAP is_implicated_in DOID:0110337 osteogenesis imperfecta type 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17966 CEP83 is_implicated_in DOID:0111125 nephronophthisis 18 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2596 CYP1A2 is_implicated_in DOID:1380 endometrial cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18497059 20080923 RGD NCBITaxon:9606 Homo sapiens gene HGNC:566 AP3B1 is_implicated_in DOID:1227 neutropenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12125811 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3024 DRD3 is_not_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8225313 20070803 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1529 CAV3 is_implicated_in DOID:0110307 hypertrophic cardiomyopathy 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2888 DISC1 is_implicated_in DOID:8544 chronic fatigue syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20227423 20111107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:244 ADD2 is_implicated_in DOID:2986 IgA glomerulonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19838659 20121119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6953 CD46 is_not_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25710174 20160720 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14899 ADAMTS14 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18790654 20120717 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_not_implicated_in DOID:1612 breast cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21965771 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:644 AR is_implicated_in DOID:127 leiomyoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15704521 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:393 AKT3 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23378641 20180110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6026 CXCR1 is_implicated_in DOID:0080784 urinary tract infection ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21151974 20130211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29937 CCDC65 is_implicated_in DOID:0110611 primary ciliary dyskinesia 27 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:327 AGPS is_implicated_in DOID:0110853 rhizomelic chondrodysplasia punctata type 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3349 ENG is_implicated_in DOID:11294 arteriovenous malformation ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8728706 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3052 DSP is_implicated_in DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12875771 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:438 ALPL is_implicated_in DOID:0110913 adult hypophosphatasia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15819 ANKRD1 is_implicated_in DOID:11984 hypertrophic cardiomyopathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19608031 20110613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1033 BDNF is_implicated_in DOID:10933 obsessive-compulsive disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12836135 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:11335 sarcoidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20430603 20101013 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3378 EPB41L1 is_implicated_in DOID:0070041 autosomal dominant intellectual developmental disorder 11 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:602 APOA4 is_not_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10428310 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:60 ABCC9 is_implicated_in DOID:0110451 dilated cardiomyopathy 1O ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13760 CYFIP2 is_implicated_in DOID:0080430 developmental and epileptic encephalopathy 65 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:493 ANK2 is_implicated_in DOID:0111700 ankyrin-B-related cardiac arrhythmia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17073 ARHGAP26 is_implicated_in DOID:0050458 juvenile myelomonocytic leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:9383 iridocyclitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17287608 20131120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1959 CHRNA5 is_implicated_in DOID:3748 esophagus squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23844051 20211130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:4883 CFH is_implicated_in DOID:12554 hemolytic-uremic syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14583443 20160323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3236 EGFR is_implicated_in DOID:3459 breast carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18413808 20080611 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2213 COL6A3 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30226566 20231027 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19701 CNKSR2 is_implicated_in DOID:0080242 syndromic X-linked mental retardation Hough type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17294 DAB2IP is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22046421 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2514 CTNNB1 is_implicated_in DOID:0070049 autosomal dominant intellectual developmental disorder 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:812 ATP2A2 is_implicated_in DOID:0050606 acrokeratosis verruciformis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180808 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:11054 urinary bladder cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18979064 20130903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16235 DNAJC5 is_implicated_in DOID:0110720 neuronal ceroid lipofuscinosis 4 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180725 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:9452 steatotic liver disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11718682 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:435 ALOX5 is_implicated_in DOID:2349 arteriosclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14702425 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3776 AFF2 is_implicated_in DOID:0080984 X-linked intellectual developmental disorder 109 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210421 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:0080630 B-lymphoblastic leukemia/lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26104880 20160623 RGD NCBITaxon:9606 Homo sapiens gene HGNC:12760 BRWD1 is_implicated_in DOID:9562 primary ciliary dyskinesia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230712 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1759 CDH2 is_implicated_in DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200910 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:7106 ATXN3 is_implicated_in DOID:0060892 late onset Parkinson's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:6364 migraine ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:16980 CFHR3 is_implicated_in DOID:0110014 age related macular degeneration 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2555 CUL4B is_implicated_in DOID:0060822 syndromic X-linked intellectual disability Cabezas type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:26708 CFAP47 is_implicated_in DOID:0112274 X-linked spermatogenic failure 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210310 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3495 ETV6 is_implicated_in DOID:1588 thrombocytopenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2204 COL4A3 is_implicated_in DOID:0110032 autosomal dominant Alport syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:245 ADD3 is_implicated_in DOID:0081361 spastic quadriplegic cerebral palsy 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230607 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2592 CYP11B2 is_implicated_in DOID:0080626 corticosterone methyloxidase deficiency 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2200 COL2A1 is_implicated_in DOID:14415 Legg-Calve-Perthes disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:15832 BSCL2 is_implicated_in DOID:2476 hereditary spastic paraplegia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:13680364 20070319 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3430 ERBB2 is_implicated_in DOID:3070 high grade glioma ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3146 ECE1 is_implicated_in DOID:10825 essential hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:587 APEX1 is_implicated_in DOID:2893 cervix carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19202550 20100108 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1915 CHD1 is_implicated_in DOID:10283 prostate cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22179824 20141016 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_implicated_in DOID:11563 retinal vasculitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16799040 20140909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:286 ADRB2 is_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17143563 20140305 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:13543 hyperparathyroidism ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240110 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17288 APOA5 is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15306190 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24579 CIB2 is_implicated_in DOID:0110836 Usher syndrome type 1J ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:430 ALOX12B is_implicated_in DOID:0060710 autosomal recessive congenital ichthyosis 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3087 DVL3 is_implicated_in DOID:1324 lung cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:29193083 20220721 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26837 AMER1 is_implicated_in DOID:0060886 osteopathia striata with cranial sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2085 CLPS is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16189801 20091120 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17288 APOA5 is_implicated_in DOID:0111421 familial apolipoprotein A5 deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20240103 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3582 FANCA is_implicated_in DOID:9119 acute myeloid leukemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14749703 20160707 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2186 COL11A1 is_implicated_in DOID:0080675 Stickler syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20231108 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:17350 CDC40 is_implicated_in DOID:0112326 pontocerebellar hypoplasia type 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:12689 acoustic neuroma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20150366 20120302 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3602 FBLN5 is_implicated_in DOID:0070136 autosomal dominant cutis laxa 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3084 DVL1 is_implicated_in DOID:11198 DiGeorge syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8644734 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1739 CDC45 is_implicated_in DOID:0080518 Meier-Gorlin syndrome 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:10003 sensorineural hearing loss ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17454231 20131220 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1884 CFTR is_implicated_in DOID:0080526 bronchiectasis 1 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:21497 ACAD9 is_implicated_in DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6027 CXCR2 is_implicated_in DOID:559 acute pyelonephritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22325052 20130828 RGD NCBITaxon:9606 Homo sapiens gene HGNC:897 AVPR2 is_implicated_in DOID:0081060 X-linked nephrogenic diabetes insipidus ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210630 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3157 EDA is_implicated_in DOID:0050591 tooth agenesis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1325 C4BPA is_implicated_in DOID:0080600 COVID-19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:32747830 20200812 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2689 DBH is_implicated_in DOID:1094 attention deficit hyperactivity disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12707943 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17210 DHX37 is_implicated_in DOID:14448 46,XY sex reversal ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200429 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:566 AP3B1 is_implicated_in DOID:3753 Hermansky-Pudlak syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12125811 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:391 AKT1 is_implicated_in DOID:3008 invasive ductal carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18392055 20170830 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3435 ERCC3 is_implicated_in DOID:0050427 xeroderma pigmentosum ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16947863 20061221 RGD NCBITaxon:9606 Homo sapiens gene HGNC:20603 DHDDS is_implicated_in DOID:0110352 retinitis pigmentosa 59 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:6025 CXCL8 is_implicated_in DOID:1024 leprosy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30303246 20211110 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2218 COL9A2 is_implicated_in DOID:0080046 Stickler syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:904 AXIN2 is_implicated_in DOID:5409 lung small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30346805 20220211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11920 FAS is_implicated_in DOID:0050523 adult T-cell leukemia/lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17962369 20160405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_not_implicated_in DOID:2394 ovarian cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11142424 20080208 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29182 CEP164 is_implicated_in DOID:684 hepatocellular carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22004425 20220315 RGD NCBITaxon:9606 Homo sapiens gene HGNC:17416 ADGRV1 is_implicated_in DOID:0110839 Usher syndrome type 2C ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:330 AGRP is_implicated_in DOID:9352 type 2 diabetes mellitus ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11554767 20091030 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24040 ADIPOR1 is_implicated_in DOID:4448 macular degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22387454 20140805 RGD NCBITaxon:9606 Homo sapiens gene HGNC:6546 COG2 is_implicated_in DOID:0070269 congenital disorder of glycosylation type IIq ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2411 CRYGD is_implicated_in DOID:0110234 cataract 4 multiple types ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_implicated_in DOID:1909 melanoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16538172 20170512 RGD NCBITaxon:9606 Homo sapiens gene HGNC:144 ACTG1 is_implicated_in DOID:0081113 Baraitser-Winter syndrome 2 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_implicated_in DOID:620 blood protein disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20603593 20160215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:243 ADD1 is_implicated_in DOID:5844 myocardial infarction ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17082469 20110901 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7067 CIITA is_implicated_in DOID:13774 Addison's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18593762 20110929 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:848 arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23256180 20130816 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1527 CAV1 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19828204 20140616 RGD NCBITaxon:9606 Homo sapiens gene HGNC:29253 CC2D2A is_implicated_in DOID:10584 retinitis pigmentosa ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220427 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:23159 ALG2 is_implicated_in DOID:0080561 congenital disorder of glycosylation Ii ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:2560 morphine dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30211780 20240102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:966 BBS1 is_implicated_in DOID:1935 Bardet-Biedl syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12524598 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:12132 granulomatosis with polyangiitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12858455 20110207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:1962 fallopian tube disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16118671 20140404 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2228 COMT is_implicated_in DOID:0060041 autism spectrum disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25325218 20171115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:186 ADA is_implicated_in DOID:13223 uterine fibroid ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26918693 20220610 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2707 ACE is_not_implicated_in DOID:5082 liver cirrhosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:26681055 20201028 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2558 CX3CR1 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17002687 20140909 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16393 CARD11 is_implicated_in DOID:0111958 immunodeficiency 11B ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:13281 ESPN is_implicated_in DOID:0110494 autosomal recessive nonsyndromic deafness 36 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2076 CLN5 is_implicated_in DOID:0110728 neuronal ceroid lipofuscinosis 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:11936 FASLG is_implicated_in DOID:10591 pre-eclampsia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:30066360 20190809 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1952 CHRM3 is_implicated_in DOID:0060889 prune belly syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3115 E2F3 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:27557513 20180104 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2367 CRP is_implicated_in DOID:10873 Kuhnt-Junius degeneration ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19692124 20140910 RGD NCBITaxon:9606 Homo sapiens gene HGNC:735 ASAH1 is_implicated_in DOID:1927 sphingolipidosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11241842 20070123 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2148 CNGA1 is_implicated_in DOID:0110377 retinitis pigmentosa 49 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1744 CDC6 is_implicated_in DOID:0080516 Meier-Gorlin syndrome 5 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190424 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:568 AP3D1 is_implicated_in DOID:3753 Hermansky-Pudlak syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1142 BTNL2 is_implicated_in DOID:8577 ulcerative colitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19659809 20141215 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:4450 renal cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22296350 20130903 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_not_implicated_in DOID:3393 coronary artery disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18157711 20091103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:600 APOA1 is_implicated_in DOID:1387 hypolipoproteinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9931341 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2976 DNMT1 is_implicated_in DOID:0050548 hereditary sensory neuropathy ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21532572 20141103 RGD NCBITaxon:9606 Homo sapiens gene HGNC:990 BCL2 is_implicated_in DOID:4914 esophagus adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21472143 20210517 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2187 COL11A2 is_implicated_in DOID:0110545 autosomal dominant nonsyndromic deafness 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2595 CYP1A1 is_implicated_in DOID:6196 reactive arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14687717 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:19967 CCDC88C is_implicated_in DOID:0050986 spinocerebellar ataxia type 40 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:1273 respiratory syncytial virus infectious disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12964123 20110207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19884274 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:26090 CCDC40 is_implicated_in DOID:0110623 primary ciliary dyskinesia 15 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1449 CALM3 is_implicated_in DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200226 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:3275 thymoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24260492 20141107 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2232 COPB2 is_implicated_in DOID:0070281 primary autosomal recessive microcephaly 19 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:1555 urticaria ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:23727176 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1857 CENPF is_implicated_in DOID:0110595 Stromme syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:18170 CMPK1 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:21642870 20110609 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14078 BACH2 is_implicated_in DOID:0111954 immunodeficiency 60 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190515 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:10763 hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12680626 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3497 EVC is_implicated_in DOID:0111571 Weyers acrofacial dysostosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1323 C4A is_implicated_in DOID:0060297 complement component 4a deficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3467 ESR1 is_implicated_in DOID:418 systemic scleroderma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19032828 20140506 RGD NCBITaxon:9606 Homo sapiens gene HGNC:712 ARRB2 is_implicated_in DOID:9976 heroin dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33783060 20231211 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1787 CDKN2A is_implicated_in DOID:10041 dysplastic nevus syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:10338331 20140417 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1653 CD28 is_implicated_in DOID:2377 multiple sclerosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14975605 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:24039 CLMP is_implicated_in DOID:10605 short bowel syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20220316 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3033 ATN1 is_implicated_in DOID:5419 schizophrenia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9184318 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16999 CLP1 is_implicated_in DOID:0060279 pontocerebellar hypoplasia type 10 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1514 CASR is_implicated_in DOID:585 nephrolithiasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20067903 20130102 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2097 CMA1 is_implicated_in DOID:3310 atopic dermatitis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16134991 20070606 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21396 ABHD5 is_implicated_in DOID:0050729 Chanarin-Dorfman syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1628 CD14 is_implicated_in DOID:1485 cystic fibrosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19466271 20101014 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2328 CPT1A is_implicated_in DOID:3146 lipid metabolism disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9691089 20070326 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2027 CLCNKB is_implicated_in DOID:0050450 Gitelman syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11102542 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2979 DNMT3B is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18455294 20141106 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2621 CYP2C19 is_implicated_in DOID:5520 head and neck squamous cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19954746 20231207 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1508 CASP7 is_implicated_in DOID:3908 lung non-small cell carcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20661084 20171004 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11393 AURKA is_implicated_in DOID:363 uterine cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17599395 20080618 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2019 CLCN1 is_implicated_in DOID:0081336 Thomsen disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3468 ESR2 is_not_implicated_in DOID:12361 Graves' disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:11180758 20150617 RGD NCBITaxon:9606 Homo sapiens gene HGNC:16526 ACSL5 is_implicated_in DOID:0060774 congenital diarrhea ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230505 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:735 ASAH1 is_implicated_in DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:950 BAP1 is_implicated_in DOID:3495 extrahepatic bile duct adenocarcinoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25536104 20210824 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1606 CCR5 is_implicated_in DOID:7148 rheumatoid arthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16541097 20070730 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2902 DLG3 is_implicated_in DOID:0112041 non-syndromic X-linked intellectual disability 90 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1603 CCR2 is_implicated_in DOID:13378 Kawasaki disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:17672867 20140613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:582 APBB2 is_implicated_in DOID:10652 Alzheimer's disease ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15714520 20141210 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3284 EIF4A2 is_implicated_in DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20230920 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2652 CYP7B1 is_implicated_in DOID:0111070 congenital bile acid synthesis defect 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3434 ERCC2 is_implicated_in DOID:9669 senile cataract ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:24868140 20150924 RGD NCBITaxon:9606 Homo sapiens gene HGNC:565 AP2S1 is_implicated_in DOID:0060702 familial hypocalciuric hypercalcemia 3 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2577 CYBA is_not_implicated_in DOID:2957 pulmonary tuberculosis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:16608528 20101117 RGD NCBITaxon:9606 Homo sapiens gene HGNC:190 ADAM12 is_implicated_in DOID:8398 osteoarthritis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15334463 20070604 RGD NCBITaxon:9606 Homo sapiens gene HGNC:11919 CD40 is_implicated_in DOID:0050873 follicular lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:20473910 20110916 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2550 CELF2 is_implicated_in DOID:0070383 developmental and epileptic encephalopathy 97 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20211020 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:237 ADCY6 is_implicated_in DOID:0060558 lethal congenital contracture syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:779 ATCAY is_implicated_in DOID:0050753 cerebellar ataxia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14556008 20070130 RGD NCBITaxon:9606 Homo sapiens gene HGNC:7877 CNOT1 is_implicated_in DOID:0081398 holoprosencephaly 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190731 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:3263 AGO2 is_implicated_in DOID:0050741 alcohol dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:25495208 20231115 RGD NCBITaxon:9606 Homo sapiens gene HGNC:21296 EPS8L2 is_implicated_in DOID:0080261 autosomal recessive nonsyndromic deafness 106 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20190315 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:29253 CC2D2A is_implicated_in DOID:1059 intellectual disability ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:22023432 20160926 RGD NCBITaxon:9606 Homo sapiens gene HGNC:14630 CRELD1 is_implicated_in DOID:1681 heart septal defect ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:12632326 20070402 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3147 ECEL1 is_implicated_in DOID:0111594 distal arthrogryposis type 5D ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:253 ADH5 is_implicated_in DOID:0080952 AMED syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20210210 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:336 AGTR1 is_implicated_in DOID:6432 pulmonary hypertension ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19332265 20110804 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1863 CES1 is_implicated_in DOID:3119 gastrointestinal system cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:33586000 20220613 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2207 COL4A5 is_implicated_in DOID:10983 Alport syndrome ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:2349482 20070323 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1097 BRAF is_implicated_in DOID:0060585 Noonan syndrome 7 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:315 AFG3L2 is_implicated_in DOID:0080840 optic atrophy 12 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20200902 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1497 CASK is_implicated_in DOID:0060807 syndromic X-linked intellectual disability Najm type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:1248 C2 is_implicated_in DOID:8893 psoriasis ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:6559061 20131119 RGD NCBITaxon:9606 Homo sapiens gene HGNC:1529 CAV3 is_implicated_in DOID:0111191 distal myopathy Tateyama type ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:40 ABCB1 is_implicated_in DOID:1849 cannabis dependence ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:19625010 20231204 RGD NCBITaxon:9606 Homo sapiens gene HGNC:18025 COA6 is_implicated_in DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:613 APOE is_implicated_in DOID:4606 bile duct cancer ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:18296645 20100409 RGD NCBITaxon:9606 Homo sapiens gene HGNC:3420 EPS8 is_implicated_in DOID:0110463 autosomal recessive nonsyndromic deafness 102 ECO:0007191 inference by association of genotype from phenotype used in manual assertion RGD:7240710 20180130 OMIM Via RGD NCBITaxon:9606 Homo sapiens gene HGNC:2355 CRH is_implicated_in DOID:594 panic disorder ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:14675801 19990101 RGD NCBITaxon:9606 Homo sapiens gene HGNC:399 ALB is_implicated_in DOID:2855 hyperthyroxinemia ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:8048949 20070112 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2877 DIAPH2 is_implicated_in DOID:5426 primary ovarian insufficiency ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:9070928 20070405 RGD NCBITaxon:9606 Homo sapiens gene HGNC:2505 CTLA4 is_implicated_in DOID:0060060 non-Hodgkin lymphoma ECO:0007191 inference by association of genotype from phenotype used in manual assertion PMID:15114591 20160712 RGD